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<!--
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UID=347950
|
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ConceptID=C1859775
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<!--imgCountBooks = 0--><h1 class="medgenTitle"><div class="MedGenTitleText">Anterior pituitary hypoplasia</div></h1><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>347950</dd><dt><span class="dotprefix"> •</span>Concept ID: </dt><dd><a href="/medgen/docs/help/#sources" target="_blank" title="Concept Unique Identifier from NLM's Unified Medical Language system (UMLS) Click for more information.">C1859775</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Congenital Abnormality</dd></dl></div></div><table class="medgenTable"><tbody><tr><td>Synonyms:</td>
|
||
<td>Hypoplasia of anterior pituitary; Hypoplasia of the anterior pituitary; Small anterior pituitary lobe</td></tr>
|
||
<tr><td colspan="2" class="small"> </td></tr><tr><td>HPO:</td>
|
||
<td><a target="_blank" title="Human Phenotype Ontology" href="https://hpo.jax.org/app/browse/term/HP:0010627">HP:0010627</a></td></tr>
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<div class="portlet_head mgSectionHead ui-widget-header"><h1 class="nl" id="Definition">Definition</h1><a sid="100" href="#" class="portlet_shutter" title="Show/hide content"></a></div>
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||
<div class="portlet_content ln">Underdevelopment of the anterior pituitary gland. [from <a title="Human Phenotype Ontology" href="http://www.human-phenotype-ontology.org" class="defSource" target="_blank">HPO</a>]</div>
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</div>
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<div class="portlet mgSection" id="ID_118">
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<div class="portlet_head mgSectionHead ui-widget-header"><h1 class="nl" id="Term_Hierarchy">Term Hierarchy</h1><a sid="118" href="#" class="portlet_shutter" title="Show/hide content"></a></div>
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<div class="portlet_content ln HierarchyGTR"><div class="jig-ncbitabs"><ul><li><a href="#tabGTR">GTR</a></li><li><a href="#tabMGEN">MeSH</a></li></ul><div id="tabGTR"><div class="search_result"><div class="rprts"><div class="chiclet_legend"><span class="chiclet_list" style="position:static;"><span title="Clinical test" class="chiclet Ccolor round">C</span><span>Clinical test, </span><span title="Research test" class="chiclet Rcolor round">R</span><span>Research test, </span><span title="OMIM" class="chiclet Ocolor ">O</span><span>OMIM, </span><span title="GeneReview" class="chiclet Gcolor">G</span><span><em>GeneReviews</em>, </span><span title="ClinVar" class="chiclet Vcolor">V</span><span>ClinVar </span></span></div><div id="hierarchy" class="margin_t1"><div class="ds_tree"><ul><li class="matched_ds"><span class="chiclet_list"><span class="chiclet unavailable round" title="Clinical test">C</span><span class="chiclet unavailable round" title="Research Tests">R</span><span class="chiclet unavailable" title="OMIM">O</span><span class="chiclet unavailable" title="GeneReviews">G</span><span class="chiclet unavailable" title="ClinVar">V</span></span><span class="TLline">Anterior pituitary hypoplasia</span></li></ul></div></div></div></div></div><div id="tabMGEN"><div class="ds_tree"><ul><li><span class="TLline"><a href="/medgen/868416" ref="tree=MeSH" title="MedGen record for Abnormal nervous system morphology">Abnormal nervous system morphology</a></span><ul><li><span class="TLline"><a href="/medgen/892343" ref="tree=MeSH" title="MedGen record for Morphological central nervous system abnormality">Morphological central nervous system abnormality</a></span><ul><li><span class="TLline"><a href="/medgen/866738" ref="tree=MeSH" title="MedGen record for Abnormal brain morphology">Abnormal brain morphology</a></span><ul><li><span class="TLline"><a href="/medgen/1843446" ref="tree=MeSH" title="MedGen record for Abnormal pituitary gland morphology">Abnormal pituitary gland morphology</a></span><ul><li><span class="TLline"><a href="/medgen/892315" ref="tree=MeSH" title="MedGen record for Abnormality of the anterior pituitary">Abnormality of the anterior pituitary</a></span><ul><li><span class="TLline"><a href="/medgen/869345" ref="tree=MeSH" title="MedGen record for Anterior pituitary dysgenesis">Anterior pituitary dysgenesis</a></span><ul><li><span class="matched_ds">Anterior pituitary hypoplasia</span></li></ul></li></ul></li></ul></li></ul></li></ul></li></ul></li></ul></div></div></div></div>
|
||
</div>
|
||
|
||
<div class="portlet mgSection" id="ID_112">
|
||
<div class="portlet_head mgSectionHead ui-widget-header"><h1 class="nl" id="Conditions_with_this_feature">Conditions with this feature</h1><a sid="112" href="#" class="portlet_shutter" title="Show/hide content"></a></div>
|
||
<div class="portlet_content ln clinfeat">
|
||
<div class="divPopper rprt" id="rdis_124405"><div><strong>Autosomal dominant isolated somatotropin deficiency</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>124405</dd><dt><span class="dotprefix"> •</span>Concept ID: </dt><dd><a href="/medgen/docs/help/#sources" target="_blank" title="Concept Unique Identifier from NLM's Unified Medical Language system (UMLS) Click for more information.">C0271567</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Disease or Syndrome</dd></dl></div></div></div>
|
||
<div class="spaceAbove">Type II IGHD is an autosomal dominant disorder characterized by low but detectable levels of growth hormone (GH), variable height deficit and age at presentation, and good response to rhGH. Patients may show anterior pituitary hypoplasia on MRI (summary by Phillips and Cogan, 1994; Alatzoglou and Dattani, 2012).</div>
|
||
<div class="spaceAbove nowrap">See: <a href="/medgen/124405">Condition Record</a></div></div>
|
||
<div class="divPopper rprt" id="rdis_90926"><div><strong>Septo-optic dysplasia sequence</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>90926</dd><dt><span class="dotprefix"> •</span>Concept ID: </dt><dd><a href="/medgen/docs/help/#sources" target="_blank" title="Concept Unique Identifier from NLM's Unified Medical Language system (UMLS) Click for more information.">C0338503</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Disease or Syndrome</dd></dl></div></div></div>
|
||
<div class="spaceAbove">Septooptic dysplasia is a clinically heterogeneous disorder loosely defined by any combination of optic nerve hypoplasia, pituitary gland hypoplasia, and midline abnormalities of the brain, including absence of the corpus callosum and septum pellucidum (Dattani et al., 1998). The diagnosis of this rare congenital anomaly is made when 2 or more features of the classic triad are present. Approximately 30% of patients have complete manifestations, 62% display hypopituitarism, and 60% have an absent septum pellucidum. The disorder is equally prevalent in males and females and is more common in infants born to younger mothers, with a reported incidence of 1 in 10,000 live births (summary by Webb and Dattani, 2010). Also see 516020.0012 for a form of septooptic dysplasia associated with cardiomyopathy and exercise intolerance.</div>
|
||
<div class="spaceAbove nowrap">See: <a href="/medgen/90926">Condition Record</a></div></div>
|
||
<div class="divPopper rprt" id="rdis_98483"><div><strong>Lenz-Majewski hyperostosis syndrome</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>98483</dd><dt><span class="dotprefix"> •</span>Concept ID: </dt><dd><a href="/medgen/docs/help/#sources" target="_blank" title="Concept Unique Identifier from NLM's Unified Medical Language system (UMLS) Click for more information.">C0432269</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Congenital Abnormality</dd></dl></div></div></div>
|
||
<div class="spaceAbove">Lenz-Majewski hyperostotic dwarfism is a rare condition characterized by intellectual disability, sclerosing bone dysplasia, distinct craniofacial and dental anomalies, loose skin, and distal limb anomalies, particularly brachydactyly and symphalangism. Patients have multiple radiographic abnormalities due to progressive generalized hyperostosis that affects the cranium, vertebrae, and diaphyses of tubular bones, leading to severe growth retardation (summary by Sousa et al., 2014).</div>
|
||
<div class="spaceAbove nowrap">See: <a href="/medgen/98483">Condition Record</a></div></div>
|
||
<div class="divPopper rprt" id="rdis_324369"><div><strong>Holoprosencephaly 9</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>324369</dd><dt><span class="dotprefix"> •</span>Concept ID: </dt><dd><a href="/medgen/docs/help/#sources" target="_blank" title="Concept Unique Identifier from NLM's Unified Medical Language system (UMLS) Click for more information.">C1835819</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Disease or Syndrome</dd></dl></div></div></div>
|
||
<div class="spaceAbove">Holoprosencephaly-9 refers to a disorder characterized by a wide phenotypic spectrum of brain developmental defects, with or without overt forebrain cleavage abnormalities. It usually includes midline craniofacial anomalies involving the first branchial arch and/or orbits, pituitary hypoplasia with panhypopituitarism, and postaxial polydactyly. The disorder shows incomplete penetrance and variable expressivity (summary by Roessler et al., 2003 and Bertolacini et al., 2012). For general phenotypic information and a discussion of genetic heterogeneity of holoprosencephaly, see HPE1 (236100).</div>
|
||
<div class="spaceAbove nowrap">See: <a href="/medgen/324369">Condition Record</a></div></div>
|
||
<div class="divPopper rprt" id="rdis_338532"><div><strong>Trichomegaly-retina pigmentary degeneration-dwarfism syndrome</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>338532</dd><dt><span class="dotprefix"> •</span>Concept ID: </dt><dd><a href="/medgen/docs/help/#sources" target="_blank" title="Concept Unique Identifier from NLM's Unified Medical Language system (UMLS) Click for more information.">C1848745</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Disease or Syndrome</dd></dl></div></div></div>
|
||
<div class="spaceAbove">PNPLA6 disorders span a phenotypic continuum characterized by variable combinations of cerebellar ataxia; upper motor neuron involvement manifesting as spasticity and/or brisk reflexes; chorioretinal dystrophy associated with variable degrees of reduced visual function; and hypogonadotropic hypogonadism (delayed puberty and lack of secondary sex characteristics). The hypogonadotropic hypogonadism occurs either in isolation or as part of anterior hypopituitarism (growth hormone, thyroid hormone, or gonadotropin deficiencies). Common but less frequent features are peripheral neuropathy (usually of axonal type manifesting as reduced distal reflexes, diminished vibratory sensation, and/or distal muscle wasting); hair anomalies (long eyelashes, bushy eyebrows, or scalp alopecia); short stature; and impaired cognitive functioning (learning disabilities in children; deficits in attention, visuospatial abilities, and recall in adults). Some of these features can occur in distinct clusters on the phenotypic continuum: Boucher-Neuhäuser syndrome (cerebellar ataxia, chorioretinal dystrophy, and hypogonadotropic hypogonadism); Gordon Holmes syndrome (cerebellar ataxia, hypogonadotropic hypogonadism, and – to a variable degree – brisk reflexes); Oliver-McFarlane syndrome (trichomegaly, chorioretinal dystrophy, short stature, intellectual disability, and hypopituitarism); Laurence-Moon syndrome; and spastic paraplegia type 39 (SPG39) (upper motor neuron involvement, peripheral neuropathy, and sometimes reduced cognitive functioning and/or cerebellar ataxia).</div>
|
||
<div class="spaceAbove nowrap">See: <a href="/medgen/338532">Condition Record</a></div></div>
|
||
<div class="divPopper rprt" id="rdis_347798"><div><strong>Ataxia-hypogonadism-choroidal dystrophy syndrome</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>347798</dd><dt><span class="dotprefix"> •</span>Concept ID: </dt><dd><a href="/medgen/docs/help/#sources" target="_blank" title="Concept Unique Identifier from NLM's Unified Medical Language system (UMLS) Click for more information.">C1859093</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Disease or Syndrome</dd></dl></div></div></div>
|
||
<div class="spaceAbove">PNPLA6 disorders span a phenotypic continuum characterized by variable combinations of cerebellar ataxia; upper motor neuron involvement manifesting as spasticity and/or brisk reflexes; chorioretinal dystrophy associated with variable degrees of reduced visual function; and hypogonadotropic hypogonadism (delayed puberty and lack of secondary sex characteristics). The hypogonadotropic hypogonadism occurs either in isolation or as part of anterior hypopituitarism (growth hormone, thyroid hormone, or gonadotropin deficiencies). Common but less frequent features are peripheral neuropathy (usually of axonal type manifesting as reduced distal reflexes, diminished vibratory sensation, and/or distal muscle wasting); hair anomalies (long eyelashes, bushy eyebrows, or scalp alopecia); short stature; and impaired cognitive functioning (learning disabilities in children; deficits in attention, visuospatial abilities, and recall in adults). Some of these features can occur in distinct clusters on the phenotypic continuum: Boucher-Neuhäuser syndrome (cerebellar ataxia, chorioretinal dystrophy, and hypogonadotropic hypogonadism); Gordon Holmes syndrome (cerebellar ataxia, hypogonadotropic hypogonadism, and – to a variable degree – brisk reflexes); Oliver-McFarlane syndrome (trichomegaly, chorioretinal dystrophy, short stature, intellectual disability, and hypopituitarism); Laurence-Moon syndrome; and spastic paraplegia type 39 (SPG39) (upper motor neuron involvement, peripheral neuropathy, and sometimes reduced cognitive functioning and/or cerebellar ataxia).</div>
|
||
<div class="spaceAbove nowrap">See: <a href="/medgen/347798">Condition Record</a></div></div>
|
||
<div class="divPopper rprt" id="rdis_347232"><div><strong>Anophthalmia/microphthalmia-esophageal atresia syndrome</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>347232</dd><dt><span class="dotprefix"> •</span>Concept ID: </dt><dd><a href="/medgen/docs/help/#sources" target="_blank" title="Concept Unique Identifier from NLM's Unified Medical Language system (UMLS) Click for more information."><span class="highlight" style="background-color:">C1859773</span></a></dd><dt><span class="dotprefix"> •</span></dt><dd>Disease or Syndrome</dd></dl></div></div></div>
|
||
<div class="spaceAbove">The phenotypic spectrum of SOX2 disorder includes anophthalmia and/or microphthalmia, brain malformations, developmental delay / intellectual disability, esophageal atresia, hypogonadotropic hypogonadism (manifest as cryptorchidism and micropenis in males, gonadal dysgenesis infrequently in females, and delayed puberty in both sexes), pituitary hypoplasia, postnatal growth delay, hypotonia, seizures, and spastic or dystonic movements.</div>
|
||
<div class="spaceAbove nowrap">See: <a href="/medgen/347232">Condition Record</a></div></div>
|
||
<div class="divPopper rprt" id="rdis_357886"><div><strong>Ulnar-mammary syndrome</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>357886</dd><dt><span class="dotprefix"> •</span>Concept ID: </dt><dd><a href="/medgen/docs/help/#sources" target="_blank" title="Concept Unique Identifier from NLM's Unified Medical Language system (UMLS) Click for more information.">C1866994</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Disease or Syndrome</dd></dl></div></div></div>
|
||
<div class="spaceAbove">Ulnar-mammary syndrome (UMS) is an autosomal dominant disorder characterized by posterior limb deficiencies or duplications, apocrine/mammary gland hypoplasia and/or dysfunction, abnormal dentition, delayed puberty in males, and genital anomalies (Bamshad et al., 1996).</div>
|
||
<div class="spaceAbove nowrap">See: <a href="/medgen/357886">Condition Record</a></div></div>
|
||
<div class="divPopper rprt" id="rdis_414421"><div><strong>Pituitary hormone deficiency, combined, 1</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>414421</dd><dt><span class="dotprefix"> •</span>Concept ID: </dt><dd><a href="/medgen/docs/help/#sources" target="_blank" title="Concept Unique Identifier from NLM's Unified Medical Language system (UMLS) Click for more information.">C2751608</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Disease or Syndrome</dd></dl></div></div></div>
|
||
<div class="spaceAbove">Combined pituitary hormone deficiency (CPHD) in man denotes impaired production of growth hormone (GH; 139250) and one or more of the other 5 anterior pituitary hormones. Mutations of the POU1F1 gene in the human and Pit1 in the mouse are responsible for pleiotropic deficiencies of GH, prolactin (PRL; 176760), and thyroid-stimulating hormone (TSH; see 188540), while the production of adrenocorticotrophic hormone (ACTH; see 176830), luteinizing hormone (LH; 152780), and follicle-stimulating hormone (FSH; 136530) are preserved (Wu et al., 1998). Some patients exhibit only GH deficiency, although approximately 50% of isolated GH deficiency progresses to CPHD (Gergics et al., 2021). In infancy severe growth deficiency from birth as well as distinctive facial features with prominent forehead, marked midfacial hypoplasia with depressed nasal bridge, deep-set eyes, and a short nose with anteverted nostrils and hypoplastic pituitary gland by MRI examination can be seen (Aarskog et al., 1997). Some cases present with severe mental retardation along with short stature (Radovick et al., 1992). Reviews Voss and Rosenfeld (1992) reviewed the development and differentiation of the 5 pituitary cell types: galactotropes, gonadotropes, corticotropes, thyrotropes, and somatotropes. As indicated by the mutations in PIT1 described later, combined pituitary hormone deficiency can have either autosomal dominant or autosomal recessive inheritance, depending on the part of the PIT1 molecule affected by the mutation. Some mutations have a dominant-negative effect. Genetic Heterogeneity of Combined Pituitary Hormone Deficiency CPHD2 (262600), associated with hypogonadism, is caused by mutation in the PROP1 gene (601538). CPHD3 (221750), which is associated with rigid cervical spine and variable sensorineural deafness, is caused by mutation in the LHX3 gene (600577). CPHD4 (262700) is caused by mutation in the LHX4 gene (602146). CPHD5 (see septooptic dysplasia, 182230) is caused by mutation in the HESX1 gene (601802). CPHD6 (613986) is caused by mutation in the OTX2 gene (600037). CPHD7 (618160) is caused by mutation in the RNPC3 gene (618016). CPHD8 (620303) is caused by mutation in the ROBO1 gene (602430).</div>
|
||
<div class="spaceAbove nowrap">See: <a href="/medgen/414421">Condition Record</a></div></div>
|
||
<div class="divPopper rprt" id="rdis_462057"><div><strong>Chromosome 14q11-q22 deletion syndrome</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>462057</dd><dt><span class="dotprefix"> •</span>Concept ID: </dt><dd><a href="/medgen/docs/help/#sources" target="_blank" title="Concept Unique Identifier from NLM's Unified Medical Language system (UMLS) Click for more information.">C3150707</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Disease or Syndrome</dd></dl></div></div></div>
|
||
<div class="spaceAbove">14q11.2 microdeletion syndrome is a recently described syndrome characterized by developmental delay, hypotonia and facial dysmorphism.</div>
|
||
<div class="spaceAbove nowrap">See: <a href="/medgen/462057">Condition Record</a></div></div>
|
||
<div class="divPopper rprt" id="rdis_483740"><div><strong>Non-acquired combined pituitary hormone deficiency with spine abnormalities</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>483740</dd><dt><span class="dotprefix"> •</span>Concept ID: </dt><dd><a href="/medgen/docs/help/#sources" target="_blank" title="Concept Unique Identifier from NLM's Unified Medical Language system (UMLS) Click for more information.">C3489787</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Disease or Syndrome</dd></dl></div></div></div>
|
||
<div class="spaceAbove">Combined pituitary hormone deficiency-3 (CPHD3) is an autosomal recessive disorder characterized by hypopituitarism with structural anterior pituitary defects and cervical abnormalities with or without restricted neck rotation. Some patients have sensorineural hearing loss (summary by Rajab et al., 2008). For a discussion of phenotypic and genetic heterogeneity of combined pituitary hormone deficiency, see CPHD1 (613038).</div>
|
||
<div class="spaceAbove nowrap">See: <a href="/medgen/483740">Condition Record</a></div></div>
|
||
<div class="divPopper rprt" id="rdis_862916"><div><strong>Postaxial polydactyly-anterior pituitary anomalies-facial dysmorphism syndrome</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>862916</dd><dt><span class="dotprefix"> •</span>Concept ID: </dt><dd><a href="/medgen/docs/help/#sources" target="_blank" title="Concept Unique Identifier from NLM's Unified Medical Language system (UMLS) Click for more information.">C4014479</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Disease or Syndrome</dd></dl></div></div></div>
|
||
<div class="spaceAbove">Postaxial polydactyly-anterior pituitary anomalies-facial dysmorphism syndrome is a rare, genetic developmental defect during embryogenesis disorder characterized primarily by congenital hypopituitarism and/or postaxial polydactyly. It can be associated with short stature, delayed bone age, hypogonadotropic hypogonadism, and/or midline facial defects (e.g. hypotelorism, mild midface hypoplasia, flat nasal bridge, and cleft lip and/or palate). Hypoplastic anterior pituitary and ectopic posterior pituitary lobe are frequent findings on MRI examination.</div>
|
||
<div class="spaceAbove nowrap">See: <a href="/medgen/862916">Condition Record</a></div></div>
|
||
<div class="divPopper rprt" id="rdis_863145"><div><strong>Webb-Dattani syndrome</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>863145</dd><dt><span class="dotprefix"> •</span>Concept ID: </dt><dd><a href="/medgen/docs/help/#sources" target="_blank" title="Concept Unique Identifier from NLM's Unified Medical Language system (UMLS) Click for more information.">C4014708</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Disease or Syndrome</dd></dl></div></div></div>
|
||
<div class="spaceAbove">Webb-Dattani syndrome is an autosomal recessive disorder characterized by frontotemporal hypoplasia, globally delayed development, and pituitary and hypothalamic insufficiency due to hypoplastic development of these brain regions. Patients present soon after birth with multiple pituitary hormonal deficiencies and subsequently develop microcephaly, seizures, and spasticity. Other features include postretinal blindness and renal abnormalities (summary by Webb et al., 2013).</div>
|
||
<div class="spaceAbove nowrap">See: <a href="/medgen/863145">Condition Record</a></div></div>
|
||
<div class="divPopper rprt" id="rdis_863698"><div><strong>Polyendocrine-polyneuropathy syndrome</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>863698</dd><dt><span class="dotprefix"> •</span>Concept ID: </dt><dd><a href="/medgen/docs/help/#sources" target="_blank" title="Concept Unique Identifier from NLM's Unified Medical Language system (UMLS) Click for more information.">C4015261</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Disease or Syndrome</dd></dl></div></div></div>
|
||
<div class="spaceAbove">A rare genetic disease with characteristics of childhood onset of multiple endocrine manifestations in combination with central and peripheral nervous system abnormalities. Reported signs and symptoms include postnatal growth retardation, moderate intellectual disability, hypogonadotropic hypogonadism, insulin-dependent diabetes mellitus, central hypothyroidism, demyelinating sensorimotor polyneuropathy, cerebellar and pyramidal signs. Progressive hearing loss and a hypoplastic pituitary gland have also been described. Brain imaging shows moderate white matter abnormalities.</div>
|
||
<div class="spaceAbove nowrap">See: <a href="/medgen/863698">Condition Record</a></div></div>
|
||
<div class="divPopper rprt" id="rdis_1648300"><div><strong>Isolated growth hormone deficiency, type 4</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>1648300</dd><dt><span class="dotprefix"> •</span>Concept ID: </dt><dd><a href="/medgen/docs/help/#sources" target="_blank" title="Concept Unique Identifier from NLM's Unified Medical Language system (UMLS) Click for more information.">C4722273</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Disease or Syndrome</dd></dl></div></div></div>
|
||
<div class="spaceAbove">Isolated growth hormone deficiency type IV (IGHD4) is an autosomal recessive disorder characterized by early and severe growth failure (height SDS up to -7.4), a blunted growth hormone (GH) response to different provocation tests and low insulin-like growth factor-I (IGF1; 147440) and IGF-binding protein-3 (IGFBP3; 146732) concentrations, and a good response to growth hormone treatment (summary by Alatzoglou et al., 2014). For general phenotypic information and a discussion of genetic heterogeneity of IGHD, see 262400.</div>
|
||
<div class="spaceAbove nowrap">See: <a href="/medgen/1648300">Condition Record</a></div></div>
|
||
<div class="divPopper rprt" id="rdis_1648500"><div><strong>Isolated growth hormone deficiency, type 5</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>1648500</dd><dt><span class="dotprefix"> •</span>Concept ID: </dt><dd><a href="/medgen/docs/help/#sources" target="_blank" title="Concept Unique Identifier from NLM's Unified Medical Language system (UMLS) Click for more information.">C4748435</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Disease or Syndrome</dd></dl></div></div></div>
|
||
<div class="spaceAbove">Combined pituitary hormone deficiency (CPHD) in man denotes impaired production of growth hormone (GH; 139250) and one or more of the other 5 anterior pituitary hormones. Some patients exhibit only GH deficiency, although approximately 50% of isolated GH deficiency progresses to CPHD (Gergics et al., 2021). Individuals with CPHD7 have been reported with isolated GH deficiency as well as combined deficiencies including thyroid-stimulating hormone (TSH; see 188540) and/or prolactin (PRL; 176760). In addition to severe postnatal short stature, patients exhibit delayed bone age and hypoplasia of the anterior pituitary, as well as distinctive facial dysmorphisms including frontal bossing and depressed nasal bridge (Argente et al., 2014; Verberne et al., 2020; Yamada et al., 2021). For general phenotypic information and a discussion of genetic heterogeneity of CPHD, see 613038.</div>
|
||
<div class="spaceAbove nowrap">See: <a href="/medgen/1648500">Condition Record</a></div></div>
|
||
<div class="divPopper rprt" id="rdis_1756624"><div><strong>Deeah syndrome</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>1756624</dd><dt><span class="dotprefix"> •</span>Concept ID: </dt><dd><a href="/medgen/docs/help/#sources" target="_blank" title="Concept Unique Identifier from NLM's Unified Medical Language system (UMLS) Click for more information.">C5436579</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Disease or Syndrome</dd></dl></div></div></div>
|
||
<div class="spaceAbove">DEEAH syndrome is an autosomal recessive multisystemic disorder with onset in early infancy. Affected individuals usually present in the perinatal period with respiratory insufficiency, apneic episodes, and generalized hypotonia. The patients have failure to thrive and severely impaired global development with poor acquisition of motor, cognitive, and language skills. Other common features include endocrine, pancreatic exocrine, and autonomic dysfunction, as well as hematologic disturbances, mainly low hemoglobin. Patients also have dysmorphic and myopathic facial features. Additional more variable features include seizures, undescended testes, and distal skeletal anomalies. Death in early childhood may occur (summary by Schneeberger et al., 2020).</div>
|
||
<div class="spaceAbove nowrap">See: <a href="/medgen/1756624">Condition Record</a></div></div>
|
||
<div class="divPopper rprt" id="rdis_1794200"><div><strong>Biliary, renal, neurologic, and skeletal syndrome</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>1794200</dd><dt><span class="dotprefix"> •</span>Concept ID: </dt><dd><a href="/medgen/docs/help/#sources" target="_blank" title="Concept Unique Identifier from NLM's Unified Medical Language system (UMLS) Click for more information.">C5561990</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Disease or Syndrome</dd></dl></div></div></div>
|
||
<div class="spaceAbove">Biliary, renal, neurologic, and skeletal syndrome (BRENS) is an autosomal recessive complex ciliopathy with multisystemic manifestations. The most common presentation is severe neonatal cholestasis that progresses to liver fibrosis and cirrhosis. Most patients have additional clinical features suggestive of a ciliopathy, including postaxial polydactyly, hydrocephalus, retinal abnormalities, and situs inversus. Additional features of the syndrome may include congenital cardiac defects, echogenic kidneys with renal failure, ocular abnormalities, joint hyperextensibility, and dysmorphic facial features. Some patients have global developmental delay. Brain imaging typically shows dilated ventricles, hypomyelination, and white matter abnormalities, although some patients have been described with abnormal pituitary development (summary by Shaheen et al., 2020 and David et al., 2020).</div>
|
||
<div class="spaceAbove nowrap">See: <a href="/medgen/1794200">Condition Record</a></div></div>
|
||
<div class="divPopper rprt" id="rdis_1794252"><div><strong>Congenital heart defects, multiple types, 8, with or without heterotaxy</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>1794252</dd><dt><span class="dotprefix"> •</span>Concept ID: </dt><dd><a href="/medgen/docs/help/#sources" target="_blank" title="Concept Unique Identifier from NLM's Unified Medical Language system (UMLS) Click for more information.">C5562042</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Disease or Syndrome</dd></dl></div></div></div>
|
||
<div class="spaceAbove">Multiple types of congenital heart defects-8 (CHTD8) is characterized by cardiac septal defects, double-outlet right ventricle, unbalanced complete atrioventricular canal, and valvular anomalies, as well as vascular anomalies including dextroposition of the great arteries, anomalous pulmonary venous return, and superior vena cava to left atrium defect. Patients may also exhibit laterality defects, including dextrocardia, atrial isomerism, dextrogastria, left-sided gallbladder, and intestinal malrotation (Zaidi et al., 2013; Granadillo et al., 2018).</div>
|
||
<div class="spaceAbove nowrap">See: <a href="/medgen/1794252">Condition Record</a></div></div>
|
||
<div class="divPopper rprt" id="rdis_1803276"><div><strong>Chilton-Okur-Chung neurodevelopmental syndrome</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>1803276</dd><dt><span class="dotprefix"> •</span>Concept ID: </dt><dd><a href="/medgen/docs/help/#sources" target="_blank" title="Concept Unique Identifier from NLM's Unified Medical Language system (UMLS) Click for more information.">C5677022</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Disease or Syndrome</dd></dl></div></div></div>
|
||
<div class="spaceAbove">Chilton-Okur-Chung neurodevelopmental syndrome (CHOCNS) is characterized mainly by global developmental delay with variably impaired intellectual development and occasional speech delay. Most patients have behavioral abnormalities, including autism spectrum disorder, ADHD, and aggression. About half of patients have dysmorphic facial features, and about half have nonspecific brain abnormalities, including thin corpus callosum. Rare involvement of other organ systems may be present. At least 1 child with normal development at age 2.5 years has been reported (Chilton et al., 2020).</div>
|
||
<div class="spaceAbove nowrap">See: <a href="/medgen/1803276">Condition Record</a></div></div>
|
||
<div class="divPopper rprt" id="rdis_1823963"><div><strong>Developmental and epileptic encephalopathy 105 with hypopituitarism</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>1823963</dd><dt><span class="dotprefix"> •</span>Concept ID: </dt><dd><a href="/medgen/docs/help/#sources" target="_blank" title="Concept Unique Identifier from NLM's Unified Medical Language system (UMLS) Click for more information.">C5774190</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Disease or Syndrome</dd></dl></div></div></div>
|
||
<div class="spaceAbove">Developmental and epileptic encephalopathy-105 with hypopituitarism (DEE105) is an autosomal recessive disorder characterized by the onset of seizures and pituitary insufficiency in the first weeks or months of life. Affected individuals have profoundly impaired development with almost no acquisition of skills. They are hypotonic, unable to sit or speak, and have poor or absent visual fixation. Endocrine workup shows central pituitary dysfunction with low hormone levels. Brain imaging shows cerebral atrophy, thin corpus callosum, and small pituitary gland (Schanzer et al., 2021). For a general phenotypic description and a discussion of genetic heterogeneity of DEE, see 308350.</div>
|
||
<div class="spaceAbove nowrap">See: <a href="/medgen/1823963">Condition Record</a></div></div>
|
||
<div class="divPopper rprt" id="rdis_1841011"><div><strong>Pituitary hormone deficiency, combined or isolated, 8</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>1841011</dd><dt><span class="dotprefix"> •</span>Concept ID: </dt><dd><a href="/medgen/docs/help/#sources" target="_blank" title="Concept Unique Identifier from NLM's Unified Medical Language system (UMLS) Click for more information.">C5830375</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Disease or Syndrome</dd></dl></div></div></div>
|
||
<div class="spaceAbove">Combined pituitary hormone deficiency-8 (CPHD8) is an autosomal dominant disorder characterized by deficiency of one or more of the pituitary hormones. Affected individuals have short stature due to growth hormone (GH; 139250) deficiency with variable deficiencies of other pituitary hormones, including TSH (see 188540), ACTH, and LH/FSH (see 118850). Posterior pituitary deficiency leading to central diabetes insipidus is rare (Bashamboo et al., 2017). Many patients are diagnosed with 'pituitary stalk interruption syndrome' (PSIS), which is characterized by a thin or absent pituitary stalk, absent or ectopic posterior pituitary, and hypoplasia of the anterior pituitary demonstrated on brain imaging, although this classic triad may be incomplete. Brauner et al. (2020) noted the complex phenotypic and genetic heterogeneity of PSIS, and concluded that it is a feature of genetic disorders or syndromes rather than a specific clinical entity. For a discussion of genetic heterogeneity of combined pituitary hormone deficiency, see CPHD1 (613038).</div>
|
||
<div class="spaceAbove nowrap">See: <a href="/medgen/1841011">Condition Record</a></div></div>
|
||
<div class="divPopper rprt" id="rdis_1844409"><div><strong>Ziegler-Huang syndrome</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>1844409</dd><dt><span class="dotprefix"> •</span>Concept ID: </dt><dd><a href="/medgen/docs/help/#sources" target="_blank" title="Concept Unique Identifier from NLM's Unified Medical Language system (UMLS) Click for more information.">C5882688</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Disease or Syndrome</dd></dl></div></div></div>
|
||
<div class="spaceAbove">Ziegler-Huang syndrome (ZHS) is a bone marrow failure syndrome characterized by severe growth retardation responsive to growth hormone (GH1; 139250) treatment, testicular hypoplasia, and progressive bone marrow failure, with thrombocytopenia and macrocytosis developing in childhood (Huang et al., 2023). For a general phenotypic description and discussion of genetic heterogeneity of bone marrow failure syndromes, see BMFS1 (614675).</div>
|
||
<div class="spaceAbove nowrap">See: <a href="/medgen/1844409">Condition Record</a></div></div>
|
||
<div class="hangingIndent"><a title="click for more information" class="jig-ncbipopper" href="#rdis_347232" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Anophthalmia/microphthalmia-esophageal atresia syndrome</a></div>
|
||
<div class="hangingIndent"><a title="click for more information" class="jig-ncbipopper" href="#rdis_347798" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Ataxia-hypogonadism-choroidal dystrophy syndrome</a></div>
|
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<div class="hangingIndent"><a title="click for more information" class="jig-ncbipopper" href="#rdis_124405" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Autosomal dominant isolated somatotropin deficiency</a></div>
|
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<div class="hangingIndent"><a title="click for more information" class="jig-ncbipopper" href="#rdis_1794200" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Biliary, renal, neurologic, and skeletal syndrome</a></div>
|
||
<div class="hangingIndent"><a title="click for more information" class="jig-ncbipopper" href="#rdis_1803276" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Chilton-Okur-Chung neurodevelopmental syndrome</a></div><div class="jig-moreless" data-jigconfig="class: 'moveDown', moreText: 'See full list (23)', lessText: 'Show less', nodeBefore: 0"><span id="clinMore">
|
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<div class="hangingIndent"><a title="click for more information" class="jig-ncbipopper" href="#rdis_462057" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Chromosome 14q11-q22 deletion syndrome</a></div>
|
||
<div class="hangingIndent"><a title="click for more information" class="jig-ncbipopper" href="#rdis_1794252" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Congenital heart defects, multiple types, 8, with or without heterotaxy</a></div>
|
||
<div class="hangingIndent"><a title="click for more information" class="jig-ncbipopper" href="#rdis_1756624" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Deeah syndrome</a></div>
|
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<div class="hangingIndent"><a title="click for more information" class="jig-ncbipopper" href="#rdis_1823963" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Developmental and epileptic encephalopathy 105 with hypopituitarism</a></div>
|
||
<div class="hangingIndent"><a title="click for more information" class="jig-ncbipopper" href="#rdis_324369" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Holoprosencephaly 9</a></div>
|
||
<div class="hangingIndent"><a title="click for more information" class="jig-ncbipopper" href="#rdis_1648300" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Isolated growth hormone deficiency, type 4</a></div>
|
||
<div class="hangingIndent"><a title="click for more information" class="jig-ncbipopper" href="#rdis_1648500" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Isolated growth hormone deficiency, type 5</a></div>
|
||
<div class="hangingIndent"><a title="click for more information" class="jig-ncbipopper" href="#rdis_98483" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Lenz-Majewski hyperostosis syndrome</a></div>
|
||
<div class="hangingIndent"><a title="click for more information" class="jig-ncbipopper" href="#rdis_483740" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Non-acquired combined pituitary hormone deficiency with spine abnormalities</a></div>
|
||
<div class="hangingIndent"><a title="click for more information" class="jig-ncbipopper" href="#rdis_1841011" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Pituitary hormone deficiency, combined or isolated, 8</a></div>
|
||
<div class="hangingIndent"><a title="click for more information" class="jig-ncbipopper" href="#rdis_414421" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Pituitary hormone deficiency, combined, 1</a></div>
|
||
<div class="hangingIndent"><a title="click for more information" class="jig-ncbipopper" href="#rdis_863698" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Polyendocrine-polyneuropathy syndrome</a></div>
|
||
<div class="hangingIndent"><a title="click for more information" class="jig-ncbipopper" href="#rdis_862916" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Postaxial polydactyly-anterior pituitary anomalies-facial dysmorphism syndrome</a></div>
|
||
<div class="hangingIndent"><a title="click for more information" class="jig-ncbipopper" href="#rdis_90926" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Septo-optic dysplasia sequence</a></div>
|
||
<div class="hangingIndent"><a title="click for more information" class="jig-ncbipopper" href="#rdis_338532" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Trichomegaly-retina pigmentary degeneration-dwarfism syndrome</a></div>
|
||
<div class="hangingIndent"><a title="click for more information" class="jig-ncbipopper" href="#rdis_357886" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Ulnar-mammary syndrome</a></div>
|
||
<div class="hangingIndent"><a title="click for more information" class="jig-ncbipopper" href="#rdis_863145" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Webb-Dattani syndrome</a></div>
|
||
<div class="hangingIndent"><a title="click for more information" class="jig-ncbipopper" href="#rdis_1844409" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Ziegler-Huang syndrome</a></div></span></div></div>
|
||
</div>
|
||
|
||
<div class="portlet mgSection" id="ID_105">
|
||
<div class="portlet_head mgSectionHead ui-widget-header"><h1 class="nl" id="Professional_guidelines">Professional guidelines</h1><a sid="105" href="#" class="portlet_shutter" title="Show/hide content"></a></div>
|
||
<div class="portlet_content ln"><h3 class="subhead">PubMed<a class="help jig-ncbi-popper" data-jig="ncbipopper" href="#guidelinesHelpPM"><img class="pulldown" src="//static.pubmed.gov/portal/portal3rc.fcgi/4223267/img/4204968" /></a></h3>
|
||
<div class="nl"><a target="_blank" href="/pubmed/27000987">HESX1 mutations in patients with congenital hypopituitarism: variable phenotypes with the same genotype.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Fang Q,
|
||
Benedetti AF,
|
||
Ma Q,
|
||
Gregory L,
|
||
Li JZ,
|
||
Dattani M,
|
||
Sadeghi-Nejad A,
|
||
Arnhold IJ,
|
||
Mendonca BB,
|
||
Camper SA,
|
||
Carvalho LR</span><br />
|
||
<span class="medgenPMjournal">Clin Endocrinol (Oxf)</span>
|
||
2016 Sep;85(3):408-14.
|
||
Epub 2016 Apr 28
|
||
doi: 10.1111/cen.13067.
|
||
<span class="bold">PMID: </span><a href="/pubmed/27000987" target="_blank">27000987</a><a href="/pmc/articles/PMC4988903" target="_blank" class="PubMedFree">Free PMC Article</a></div>
|
||
<div><a target="_blank" href="https://pubmed.ncbi.nlm.nih.gov/?term=(%22anterior%20pituitary%20hypoplasia%22%5Btiab%3A~0%5D)%20AND%20(%22english%20and%20humans%22%5BFilter%5D)%20AND%20(%20(%22practice%20guideline%22%5BFilter%5D)%20OR%20(practice*%5Btitl%5D%20AND%20(guideline%5Btitl%5D%20OR%20parameter%5Btitl%5D%20OR%20resource%5Btitl%5D%20OR%20bulletin%5Btitl%5D%20OR%20best%5Btitl%5D))%20OR%20(genetic*%5Btitl%5D%20AND%20(evaluation%5Btitl%5D%20OR%20counseling%5Btitl%5D%20OR%20screening%5Btitl%5D%20OR%20test*%5Btitl%5D))%20OR%20(clinical%5Btitl%5D%20AND%20((expert%5Btitl%5D%20AND%20consensus%5Btitl%5D)%20OR%20utility%5Btitl%5D%20OR%20guideline*%5Btitl%5D))%20OR%20(management%5Btitl%5D%20AND%20(clinical%5Btitl%5D%20OR%20diagnos*%5Btitl%5D%20OR%20recommendation%5Btitl%5D%20OR%20pain%5Btitl%5D%20OR%20surveillance%5Btitl%5D%20OR%20emergency%5Btitl%5D%20OR%20guideline*%5Btitl%5D%20OR%20therap*))%20OR%20(treatment%5Btitl%5D%20AND%20((evaluation%5Btitl%5D%20AND%20diagnosis%5Btitl%5D)%20OR%20(assessment%5Btitl%5D%20AND%20prevention%5Btitl%5D)%20OR%20therap*))%20OR%20(Diagnos*%5Btitl%5D%20AND%20(prenatal%5Btitl%5D%20OR%20treatment%5Btitl%5D%20OR%20follow-up%5Btitl%5D%20OR%20statement%5Btitl%5D%20OR%20criteria%5Btitl%5D%20OR%20newborn%5Btitl%5D%20OR%20differential%5Btitl%5D%20OR%20neonatal%5Btitl%5D%20OR%20neonate%5Btitl%5D))%20OR%20(guideline*%5Btitl%5D%20AND%20(pharmacogenetic*%5Btitl%5D%20OR%20recommendation%5Btitl%5D%20OR%20therap*%5Btitl%5D%20OR%20evidence-based%5Btitl%5D%20OR%20consensus%5Btitl%5D%20OR%20(technical%5Btitl%5D%20AND%20standard*%5Btitl%5D)%20OR%20(molecular%5Btitl%5D%20AND%20testing%5Btitl%5D)))%20OR%20(risk%5Btitl%5D%20AND%20assessment%5Btitl%5D)%20OR%20(recommendation*%5Btitl%5D%20AND%20(statement%5Btitl%5D%20OR%20Evidence-based%5Btitl%5D%20OR%20Consensus%5Btitl%5D))%20OR%20(care%20AND%20((Patient%5Btitl%5D%20AND%20standard*%5Btitl%5D)%20OR%20primary%5Btitl%5D%20OR%20psychosocial%5Btitl%5D))%20OR%20(Health%5Btitl%5D%20AND%20supervision%5Btitl%5D)%20OR%20(statement%5Btitl%5D%20AND%20(policy%5Btitl%5D%20OR%20position%5Btitl%5D%20OR%20Consensus%5Btitl%5D))%20OR%20(pharmacogenetics%5Btitl%5D%20AND%20(Dosing%5Btitl%5D%20OR%20therap*%5Btitl%5D%20OR%20genotype*%5Btitl%5D%20OR%20drug*%5Btitl%5D))%20OR%20(Chemotherapy%5Btitl%5D%20AND%20decision*%5Btitl%5D)%20OR%20(screening%5Btitl%5D%20AND%20(newborn%5Btitl%5D%20OR%20neonat*%5Btitl%5D%20OR%20detection%5Btitl%5D%20OR%20diagnos*%5Btitl%5D))%20OR%20(criteria%5Btitl%5D%20OR%20genotype*%5Btitl%5D)%20)%20NOT%20(%22Case%20reports%22%5BPublication%20type%5D%20OR%20%22clinical%20study%22%5BPublication%20Type%5D%20OR%20%22randomized%20controlled%20trial%22%5BPublication%20Type%5D)" title="PubMed search">See all (1)</a></div></div>
|
||
</div>
|
||
<div class="display-none help-popup" id="guidelinesHelpPM">These guidelines are articles in PubMed that match specific search criteria developed by MedGen to capture the most relevant practice guidelines. This list may not be comprehensive and may include broader topics as well. See the <a href="/medgen/docs/faq/" title="Frequently asked questions" target="_blank">FAQ</a> for details.</div><div class="display-none help-popup" id="guidelinesHelpCurated">These guidelines are manually curated by the MedGen team
|
||
to supplement articles available in PubMed. See the <a href="/medgen/docs/faq/" title="Frequently asked questions" target="_blank">FAQ</a> for details.</div>
|
||
<div class="portlet mgSection" id="ID_103">
|
||
<div class="portlet_head mgSectionHead ui-widget-header"><h1 class="nl" id="Recent_clinical_studies">Recent clinical studies</h1><a sid="103" href="#" class="portlet_shutter" title="Show/hide content"></a></div>
|
||
<div class="portlet_content ln"><h3 class="subhead">Etiology</h3>
|
||
<div class="nl"><a target="_blank" href="/pubmed/36201475">Obesity, Overweight, and Pituitary Stalk Interruption Syndrome in Children and Young Adults.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Nannette G,
|
||
Bar C,
|
||
Diene G,
|
||
Pienkowski C,
|
||
Oliver-Petit I,
|
||
Jouret B,
|
||
Cartault A,
|
||
Porquet-Bordes V,
|
||
Salles JP,
|
||
Grunenwald S,
|
||
Edouard T,
|
||
Molinas C,
|
||
Tauber M</span><br />
|
||
<span class="medgenPMjournal">J Clin Endocrinol Metab</span>
|
||
2023 Jan 17;108(2):323-330.
|
||
doi: 10.1210/clinem/dgac583.
|
||
<span class="bold">PMID: </span><a href="/pubmed/36201475" target="_blank">36201475</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/32060556">Loss-of-Function Variants in TBC1D32 Underlie Syndromic Hypopituitarism.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Hietamäki J,
|
||
Gregory LC,
|
||
Ayoub S,
|
||
Iivonen AP,
|
||
Vaaralahti K,
|
||
Liu X,
|
||
Brandstack N,
|
||
Buckton AJ,
|
||
Laine T,
|
||
Känsäkoski J,
|
||
Hero M,
|
||
Miettinen PJ,
|
||
Varjosalo M,
|
||
Wakeling E,
|
||
Dattani MT,
|
||
Raivio T</span><br />
|
||
<span class="medgenPMjournal">J Clin Endocrinol Metab</span>
|
||
2020 Jun 1;105(6):1748-58.
|
||
doi: 10.1210/clinem/dgaa078.
|
||
<span class="bold">PMID: </span><a href="/pubmed/32060556" target="_blank">32060556</a><a href="/pmc/articles/PMC7138537" target="_blank" class="PubMedFree">Free PMC Article</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/27487097">Long-Term Outcomes, Genetics, and Pituitary Morphology in Patients with Isolated Growth Hormone Deficiency and Multiple Pituitary Hormone Deficiencies: A Single-Centre Experience of Four Decades of Growth Hormone Replacement.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Rohayem J,
|
||
Drechsel H,
|
||
Tittel B,
|
||
Hahn G,
|
||
Pfaeffle R,
|
||
Huebner A</span><br />
|
||
<span class="medgenPMjournal">Horm Res Paediatr</span>
|
||
2016;86(2):106-116.
|
||
Epub 2016 Aug 3
|
||
doi: 10.1159/000448098.
|
||
<span class="bold">PMID: </span><a href="/pubmed/27487097" target="_blank">27487097</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/23199197">Pituitary stalk interruption syndrome in 58 Chinese patients: clinical features and genetic analysis.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Yang Y,
|
||
Guo QH,
|
||
Wang BA,
|
||
Dou JT,
|
||
Lv ZH,
|
||
Ba JM,
|
||
Lu JM,
|
||
Pan CY,
|
||
Mu YM</span><br />
|
||
<span class="medgenPMjournal">Clin Endocrinol (Oxf)</span>
|
||
2013 Jul;79(1):86-92.
|
||
Epub 2013 Apr 27
|
||
doi: 10.1111/cen.12116.
|
||
<span class="bold">PMID: </span><a href="/pubmed/23199197" target="_blank">23199197</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/15800844">Over- and underdosage of SOX3 is associated with infundibular hypoplasia and hypopituitarism.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Woods KS,
|
||
Cundall M,
|
||
Turton J,
|
||
Rizotti K,
|
||
Mehta A,
|
||
Palmer R,
|
||
Wong J,
|
||
Chong WK,
|
||
Al-Zyoud M,
|
||
El-Ali M,
|
||
Otonkoski T,
|
||
Martinez-Barbera JP,
|
||
Thomas PQ,
|
||
Robinson IC,
|
||
Lovell-Badge R,
|
||
Woodward KJ,
|
||
Dattani MT</span><br />
|
||
<span class="medgenPMjournal">Am J Hum Genet</span>
|
||
2005 May;76(5):833-49.
|
||
Epub 2005 Mar 30
|
||
doi: 10.1086/430134.
|
||
<span class="bold">PMID: </span><a href="/pubmed/15800844" target="_blank">15800844</a><a href="/pmc/articles/PMC1199372" target="_blank" class="PubMedFree">Free PMC Article</a></div>
|
||
<div><a target="_blank" href="https://pubmed.ncbi.nlm.nih.gov/?term=%22Anterior%20pituitary%20hypoplasia%22%20AND%20Etiology%2Fbroad%5Bfilter%5D%20%20AND%20%22english%20and%20humans%22%5Bfilter%5D%20NOT%20comment%5BPTYP%5D%20NOT%20letter%5BPTYP%5D" title="PubMed search">See all (21)</a></div><h3 class="subhead">Diagnosis</h3>
|
||
<div class="nl"><a target="_blank" href="/pubmed/38096238">Exome sequencing in 16 patients with pituitary stalk interruption syndrome: A monocentric study.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Brauner R,
|
||
Bignon-Topalovic J,
|
||
Bashamboo A,
|
||
McElreavey K</span><br />
|
||
<span class="medgenPMjournal">PLoS One</span>
|
||
2023;18(12):e0292664.
|
||
Epub 2023 Dec 14
|
||
doi: 10.1371/journal.pone.0292664.
|
||
<span class="bold">PMID: </span><a href="/pubmed/38096238" target="_blank">38096238</a><a href="/pmc/articles/PMC10721018" target="_blank" class="PubMedFree">Free PMC Article</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/28428227">MECHANISMS IN ENDOCRINOLOGY: The multiple facets of GHRH/GH/IGF-I axis: lessons from lifetime, untreated, isolated GH deficiency due to a GHRH receptor gene mutation.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Aguiar-Oliveira MH,
|
||
Souza AHO,
|
||
Oliveira CRP,
|
||
Campos VC,
|
||
Oliveira-Neto LA,
|
||
Salvatori R</span><br />
|
||
<span class="medgenPMjournal">Eur J Endocrinol</span>
|
||
2017 Aug;177(2):R85-R97.
|
||
Epub 2017 Apr 20
|
||
doi: 10.1530/EJE-16-1047.
|
||
<span class="bold">PMID: </span><a href="/pubmed/28428227" target="_blank">28428227</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/22763804">A retrospective review of pituitary MRI findings in children on growth hormone therapy.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Tsai SL,
|
||
Laffan E,
|
||
Lawrence S</span><br />
|
||
<span class="medgenPMjournal">Pediatr Radiol</span>
|
||
2012 Jul;42(7):799-804.
|
||
doi: 10.1007/s00247-012-2349-7.
|
||
<span class="bold">PMID: </span><a href="/pubmed/22763804" target="_blank">22763804</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/21955099">The use of neuroimaging for assessing disorders of pituitary development.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Di Iorgi N,
|
||
Allegri AE,
|
||
Napoli F,
|
||
Bertelli E,
|
||
Olivieri I,
|
||
Rossi A,
|
||
Maghnie M</span><br />
|
||
<span class="medgenPMjournal">Clin Endocrinol (Oxf)</span>
|
||
2012 Feb;76(2):161-76.
|
||
doi: 10.1111/j.1365-2265.2011.04238.x.
|
||
<span class="bold">PMID: </span><a href="/pubmed/21955099" target="_blank">21955099</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/20602044">Septo-optic dysplasia.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Ferran Kd,
|
||
Paiva IA,
|
||
Gilban DL,
|
||
Resende M,
|
||
Souza MA,
|
||
Beserra IC,
|
||
Guimarães MM</span><br />
|
||
<span class="medgenPMjournal">Arq Neuropsiquiatr</span>
|
||
2010 Jun;68(3):400-5.
|
||
doi: 10.1590/s0004-282x2010000300014.
|
||
<span class="bold">PMID: </span><a href="/pubmed/20602044" target="_blank">20602044</a></div>
|
||
<div><a target="_blank" href="https://pubmed.ncbi.nlm.nih.gov/?term=%22Anterior%20pituitary%20hypoplasia%22%20AND%20Diagnosis%2Fbroad%5Bfilter%5D%20%20AND%20%22english%20and%20humans%22%5Bfilter%5D%20NOT%20comment%5BPTYP%5D%20NOT%20letter%5BPTYP%5D" title="PubMed search">See all (32)</a></div><h3 class="subhead">Therapy</h3>
|
||
<div class="nl"><a target="_blank" href="/pubmed/32302394">MITOL dysfunction causes dwarfism with anterior pituitary hypoplasia.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Matsuno K,
|
||
Nagashima S,
|
||
Shiiba I,
|
||
Taniwaka K,
|
||
Takeda K,
|
||
Tokuyama T,
|
||
Ito N,
|
||
Matsushita N,
|
||
Fukuda T,
|
||
Ishido S,
|
||
Inatome R,
|
||
Yanagi S</span><br />
|
||
<span class="medgenPMjournal">J Biochem</span>
|
||
2020 Sep 1;168(3):305-312.
|
||
doi: 10.1093/jb/mvaa050.
|
||
<span class="bold">PMID: </span><a href="/pubmed/32302394" target="_blank">32302394</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/27487097">Long-Term Outcomes, Genetics, and Pituitary Morphology in Patients with Isolated Growth Hormone Deficiency and Multiple Pituitary Hormone Deficiencies: A Single-Centre Experience of Four Decades of Growth Hormone Replacement.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Rohayem J,
|
||
Drechsel H,
|
||
Tittel B,
|
||
Hahn G,
|
||
Pfaeffle R,
|
||
Huebner A</span><br />
|
||
<span class="medgenPMjournal">Horm Res Paediatr</span>
|
||
2016;86(2):106-116.
|
||
Epub 2016 Aug 3
|
||
doi: 10.1159/000448098.
|
||
<span class="bold">PMID: </span><a href="/pubmed/27487097" target="_blank">27487097</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/22763804">A retrospective review of pituitary MRI findings in children on growth hormone therapy.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Tsai SL,
|
||
Laffan E,
|
||
Lawrence S</span><br />
|
||
<span class="medgenPMjournal">Pediatr Radiol</span>
|
||
2012 Jul;42(7):799-804.
|
||
doi: 10.1007/s00247-012-2349-7.
|
||
<span class="bold">PMID: </span><a href="/pubmed/22763804" target="_blank">22763804</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/15248824">Prevalence and demographic features of childhood growth hormone deficiency in Belgium during the period 1986-2001.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Thomas M,
|
||
Massa G,
|
||
Craen M,
|
||
de Zegher F,
|
||
Bourguignon JP,
|
||
Heinrichs C,
|
||
De Schepper J,
|
||
Du Caju M,
|
||
Thiry-Counson G,
|
||
Maes M</span><br />
|
||
<span class="medgenPMjournal">Eur J Endocrinol</span>
|
||
2004 Jul;151(1):67-72.
|
||
doi: 10.1530/eje.0.1510067.
|
||
<span class="bold">PMID: </span><a href="/pubmed/15248824" target="_blank">15248824</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/9467553">Extensive phenotypic analysis of a family with growth hormone (GH) deficiency caused by a mutation in the GH-releasing hormone receptor gene.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Netchine I,
|
||
Talon P,
|
||
Dastot F,
|
||
Vitaux F,
|
||
Goossens M,
|
||
Amselem S</span><br />
|
||
<span class="medgenPMjournal">J Clin Endocrinol Metab</span>
|
||
1998 Feb;83(2):432-6.
|
||
doi: 10.1210/jcem.83.2.4528.
|
||
<span class="bold">PMID: </span><a href="/pubmed/9467553" target="_blank">9467553</a></div>
|
||
<div><a target="_blank" href="https://pubmed.ncbi.nlm.nih.gov/?term=%22Anterior%20pituitary%20hypoplasia%22%20AND%20Therapy%2Fbroad%5Bfilter%5D%20%20AND%20%22english%20and%20humans%22%5Bfilter%5D%20NOT%20comment%5BPTYP%5D%20NOT%20letter%5BPTYP%5D" title="PubMed search">See all (12)</a></div><h3 class="subhead">Prognosis</h3>
|
||
<div class="nl"><a target="_blank" href="/pubmed/32894409">Genetic spectrum and predictors of mutations in four known genes in Asian Indian patients with growth hormone deficiency and orthotopic posterior pituitary: an emphasis on regional genetic diversity.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Kale S,
|
||
Gada JV,
|
||
Jadhav S,
|
||
Lila AR,
|
||
Sarathi V,
|
||
Budyal S,
|
||
Patt H,
|
||
Goroshi MR,
|
||
Thadani PM,
|
||
Arya S,
|
||
Kamble AA,
|
||
Patil VA,
|
||
Acharya S,
|
||
Sankhe S,
|
||
Shivane V,
|
||
Raghavan V,
|
||
Bandgar TR,
|
||
Shah NS</span><br />
|
||
<span class="medgenPMjournal">Pituitary</span>
|
||
2020 Dec;23(6):701-715.
|
||
doi: 10.1007/s11102-020-01078-4.
|
||
<span class="bold">PMID: </span><a href="/pubmed/32894409" target="_blank">32894409</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/32060556">Loss-of-Function Variants in TBC1D32 Underlie Syndromic Hypopituitarism.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Hietamäki J,
|
||
Gregory LC,
|
||
Ayoub S,
|
||
Iivonen AP,
|
||
Vaaralahti K,
|
||
Liu X,
|
||
Brandstack N,
|
||
Buckton AJ,
|
||
Laine T,
|
||
Känsäkoski J,
|
||
Hero M,
|
||
Miettinen PJ,
|
||
Varjosalo M,
|
||
Wakeling E,
|
||
Dattani MT,
|
||
Raivio T</span><br />
|
||
<span class="medgenPMjournal">J Clin Endocrinol Metab</span>
|
||
2020 Jun 1;105(6):1748-58.
|
||
doi: 10.1210/clinem/dgaa078.
|
||
<span class="bold">PMID: </span><a href="/pubmed/32060556" target="_blank">32060556</a><a href="/pmc/articles/PMC7138537" target="_blank" class="PubMedFree">Free PMC Article</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/27487097">Long-Term Outcomes, Genetics, and Pituitary Morphology in Patients with Isolated Growth Hormone Deficiency and Multiple Pituitary Hormone Deficiencies: A Single-Centre Experience of Four Decades of Growth Hormone Replacement.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Rohayem J,
|
||
Drechsel H,
|
||
Tittel B,
|
||
Hahn G,
|
||
Pfaeffle R,
|
||
Huebner A</span><br />
|
||
<span class="medgenPMjournal">Horm Res Paediatr</span>
|
||
2016;86(2):106-116.
|
||
Epub 2016 Aug 3
|
||
doi: 10.1159/000448098.
|
||
<span class="bold">PMID: </span><a href="/pubmed/27487097" target="_blank">27487097</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/19320653">Congenital hypopituitarism: clinical, molecular and neuroradiological correlates.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Mehta A,
|
||
Hindmarsh PC,
|
||
Mehta H,
|
||
Turton JP,
|
||
Russell-Eggitt I,
|
||
Taylor D,
|
||
Chong WK,
|
||
Dattani MT</span><br />
|
||
<span class="medgenPMjournal">Clin Endocrinol (Oxf)</span>
|
||
2009 Sep;71(3):376-82.
|
||
Epub 2009 Mar 6
|
||
doi: 10.1111/j.1365-2265.2009.03572.x.
|
||
<span class="bold">PMID: </span><a href="/pubmed/19320653" target="_blank">19320653</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/16932809">Mutations within Sox2/SOX2 are associated with abnormalities in the hypothalamo-pituitary-gonadal axis in mice and humans.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Kelberman D,
|
||
Rizzoti K,
|
||
Avilion A,
|
||
Bitner-Glindzicz M,
|
||
Cianfarani S,
|
||
Collins J,
|
||
Chong WK,
|
||
Kirk JM,
|
||
Achermann JC,
|
||
Ross R,
|
||
Carmignac D,
|
||
Lovell-Badge R,
|
||
Robinson IC,
|
||
Dattani MT</span><br />
|
||
<span class="medgenPMjournal">J Clin Invest</span>
|
||
2006 Sep;116(9):2442-55.
|
||
Epub 2006 Aug 24
|
||
doi: 10.1172/JCI28658.
|
||
<span class="bold">PMID: </span><a href="/pubmed/16932809" target="_blank">16932809</a><a href="/pmc/articles/PMC1551933" target="_blank" class="PubMedFree">Free PMC Article</a></div>
|
||
<div><a target="_blank" href="https://pubmed.ncbi.nlm.nih.gov/?term=%22Anterior%20pituitary%20hypoplasia%22%20AND%20Prognosis%2Fbroad%5Bfilter%5D%20%20AND%20%22english%20and%20humans%22%5Bfilter%5D%20NOT%20comment%5BPTYP%5D%20NOT%20letter%5BPTYP%5D" title="PubMed search">See all (13)</a></div><h3 class="subhead">Clinical prediction guides</h3>
|
||
<div class="nl"><a target="_blank" href="/pubmed/38096238">Exome sequencing in 16 patients with pituitary stalk interruption syndrome: A monocentric study.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Brauner R,
|
||
Bignon-Topalovic J,
|
||
Bashamboo A,
|
||
McElreavey K</span><br />
|
||
<span class="medgenPMjournal">PLoS One</span>
|
||
2023;18(12):e0292664.
|
||
Epub 2023 Dec 14
|
||
doi: 10.1371/journal.pone.0292664.
|
||
<span class="bold">PMID: </span><a href="/pubmed/38096238" target="_blank">38096238</a><a href="/pmc/articles/PMC10721018" target="_blank" class="PubMedFree">Free PMC Article</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/33108146">Requirement of FAT and DCHS protocadherins during hypothalamic-pituitary development.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Lodge EJ,
|
||
Xekouki P,
|
||
Silva TS,
|
||
Kochi C,
|
||
Longui CA,
|
||
Faucz FR,
|
||
Santambrogio A,
|
||
Mills JL,
|
||
Pankratz N,
|
||
Lane J,
|
||
Sosnowska D,
|
||
Hodgson T,
|
||
Patist AL,
|
||
Francis-West P,
|
||
Helmbacher F,
|
||
Stratakis C,
|
||
Andoniadou CL</span><br />
|
||
<span class="medgenPMjournal">JCI Insight</span>
|
||
2020 Oct 27;5(23)
|
||
doi: 10.1172/jci.insight.134310.
|
||
<span class="bold">PMID: </span><a href="/pubmed/33108146" target="_blank">33108146</a><a href="/pmc/articles/PMC7714405" target="_blank" class="PubMedFree">Free PMC Article</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/28428227">MECHANISMS IN ENDOCRINOLOGY: The multiple facets of GHRH/GH/IGF-I axis: lessons from lifetime, untreated, isolated GH deficiency due to a GHRH receptor gene mutation.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Aguiar-Oliveira MH,
|
||
Souza AHO,
|
||
Oliveira CRP,
|
||
Campos VC,
|
||
Oliveira-Neto LA,
|
||
Salvatori R</span><br />
|
||
<span class="medgenPMjournal">Eur J Endocrinol</span>
|
||
2017 Aug;177(2):R85-R97.
|
||
Epub 2017 Apr 20
|
||
doi: 10.1530/EJE-16-1047.
|
||
<span class="bold">PMID: </span><a href="/pubmed/28428227" target="_blank">28428227</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/21955099">The use of neuroimaging for assessing disorders of pituitary development.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Di Iorgi N,
|
||
Allegri AE,
|
||
Napoli F,
|
||
Bertelli E,
|
||
Olivieri I,
|
||
Rossi A,
|
||
Maghnie M</span><br />
|
||
<span class="medgenPMjournal">Clin Endocrinol (Oxf)</span>
|
||
2012 Feb;76(2):161-76.
|
||
doi: 10.1111/j.1365-2265.2011.04238.x.
|
||
<span class="bold">PMID: </span><a href="/pubmed/21955099" target="_blank">21955099</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/18987493">The role of SOX2 in hypogonadotropic hypogonadism.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Tziaferi V,
|
||
Kelberman D,
|
||
Dattani MT</span><br />
|
||
<span class="medgenPMjournal">Sex Dev</span>
|
||
2008;2(4-5):194-9.
|
||
Epub 2008 Nov 5
|
||
doi: 10.1159/000152035.
|
||
<span class="bold">PMID: </span><a href="/pubmed/18987493" target="_blank">18987493</a></div>
|
||
<div><a target="_blank" href="https://pubmed.ncbi.nlm.nih.gov/?term=%22Anterior%20pituitary%20hypoplasia%22%20AND%20Clinical%20prediction%20guides%2Fbroad%5Bfilter%5D%20%20AND%20%22english%20and%20humans%22%5Bfilter%5D%20NOT%20comment%5BPTYP%5D%20NOT%20letter%5BPTYP%5D" title="PubMed search">See all (22)</a></div></div>
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|
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|
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<div class="portlet_head mgSectionHead ui-widget-header"><h1 class="nl" id="Recent_systematic_reviews">Recent systematic reviews</h1><a sid="104" href="#" class="portlet_shutter" title="Show/hide content"></a></div>
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<div class="portlet_content ln">
|
||
<div class="nl"><a target="_blank" href="/pubmed/33742319">POU1F1 mutations in combined pituitary hormone deficiency: differing spectrum of mutations in a Western-Indian cohort and systematic analysis of world literature.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Jadhav S,
|
||
Diwaker C,
|
||
Lila AR,
|
||
Gada JV,
|
||
Kale S,
|
||
Sarathi V,
|
||
Thadani PM,
|
||
Arya S,
|
||
Patil VA,
|
||
Shah NS,
|
||
Bandgar TR</span><br />
|
||
<span class="medgenPMjournal">Pituitary</span>
|
||
2021 Oct;24(5):657-669.
|
||
Epub 2021 Mar 20
|
||
doi: 10.1007/s11102-021-01140-9.
|
||
<span class="bold">PMID: </span><a href="/pubmed/33742319" target="_blank">33742319</a></div>
|
||
<div><a target="_blank" href="https://pubmed.ncbi.nlm.nih.gov/?term=%22Anterior%20pituitary%20hypoplasia%22%20AND%20systematic%5Bsb%5D%20AND%20%22english%20and%20humans%22%5Bfilter%5D%20NOT%20comment%5BPTYP%5D%20NOT%20letter%5BPTYP%5D" title="PubMed search">See all (1)</a></div></div>
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