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<meta name="keywords" content="C0452147, congenital abnormality, hypospadias, penoscrotal, penoscrotal hypospadias, autosomal dominant, autosomal recessive, birth defects, chromosomal disease, chromosome, clinical features, clinical findings, clinical genetics, clinical recommendations, clinvar, congenital chromosomal disease, consumer genetic resources, cytogenetic location, disease characteristics, disease definitions, disease descriptions, disease ontology, disease synonyms, disease vocabulary, dysmorphology, entrez, familial disease, gene, gene-disease relationship, genereviews, genetic disease, genetic disorder, genetic terminology, genetic testing registry, genetics home reference, genomic disease, gtr, hereditary disease, heritable disease, hpo, human phenotype ontology, inherited disease, management guidelines, maternal inheritance, medgen, medical genetics, medical subject headings, mesh, mitochondrial inheritance, mode of inheritance, national center for biotechnology information, national institutes of health, national library of medicine, ncbi, nih, nlm, omim, ordo, orphanet, paternal inheritance, phenome, position statements, professional practice guidelines, rare disease, reference sequence, refseq, snomed ct, syndrome, undiagnosed diseases, x-linked recessive" /><meta name="description" content="A severe form of hypospadias in which the urethral opening is located at the junction of the penis and scrotum." /><meta name="robots" content="index,nofollow,noarchive" />
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<!--
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UID=105291
|
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ConceptID=C0452147
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-->
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<!--imgCountBooks = 0--><h1 class="medgenTitle"><div class="MedGenTitleText">Penoscrotal hypospadias</div></h1><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>105291</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.">C0452147</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Congenital Abnormality</dd></dl></div></div><table class="medgenTable"><tbody><tr><td>Synonym:</td>
|
||
<td>Hypospadias, penoscrotal</td></tr>
|
||
<tr><td><span class="bold">SNOMED CT: </span></td>
|
||
<td>Penoscrotal hypospadias (204889008)</td></tr>
|
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<tr><td colspan="2" class="small"> </td></tr><tr><td>HPO:</td>
|
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<td><a target="_blank" title="Human Phenotype Ontology" href="https://hpo.jax.org/app/browse/term/HP:0000808">HP:0000808</a></td></tr>
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|
||
<div class="portlet_content ln">A severe form of hypospadias in which the urethral opening is located at the junction of the penis and scrotum. [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 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">Penoscrotal hypospadias</span></li></ul></div></div></div></div></div><div id="tabMGEN"><div class="ds_tree"><ul><li><span class="TLline"><a href="/medgen/867443" ref="tree=MeSH" title="MedGen record for Phenotypic abnormality">Phenotypic abnormality</a></span><ul><li><span class="TLline"><a href="/medgen/871309" ref="tree=MeSH" title="MedGen record for Abnormality of prenatal development or birth">Abnormality of prenatal development or birth</a></span><ul><li><span class="TLline"><a href="/medgen/1254" ref="tree=MeSH" title="MedGen record for Fetal anomaly">Fetal anomaly</a></span><ul><li><span class="TLline"><a href="/medgen/474891" ref="tree=MeSH" title="MedGen record for Congenital Systemic Disorder">Congenital Systemic Disorder</a></span><ul><li><span class="TLline"><a href="/medgen/52948" ref="tree=MeSH" title="MedGen record for Abnormality of the genitourinary system">Abnormality of the genitourinary system</a></span><ul><li><span class="TLline"><a href="/medgen/163083" ref="tree=MeSH" title="MedGen record for Hypospadias">Hypospadias</a></span><ul><li><span class="matched_ds">Penoscrotal hypospadias</span></li></ul></li></ul></li></ul></li></ul></li></ul></li></ul></li></ul></div></div></div></div>
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<div class="portlet mgSection" id="ID_112">
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<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>
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<div class="portlet_content ln clinfeat">
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||
<div class="divPopper rprt" id="rdis_61231"><div><strong>Smith-Lemli-Opitz syndrome</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>61231</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:">C0175694</span></a></dd><dt><span class="dotprefix"> •</span></dt><dd>Disease or Syndrome</dd></dl></div></div></div>
|
||
<div class="spaceAbove">Smith-Lemli-Opitz syndrome (SLOS) is a congenital multiple-anomaly / cognitive impairment syndrome caused by an abnormality in cholesterol metabolism resulting from deficiency of the enzyme 7-dehydrocholesterol (7-DHC) reductase. It is characterized by prenatal and postnatal growth restriction, microcephaly, moderate-to-severe intellectual disability, and multiple major and minor malformations. The malformations include distinctive facial features, cleft palate, cardiac defects, underdeveloped external genitalia in males, postaxial polydactyly, and 2-3 syndactyly of the toes. The clinical spectrum is wide; individuals with normal development and only minor malformations have been described.</div>
|
||
<div class="spaceAbove nowrap">See: <a href="/medgen/61231">Condition Record</a></div></div>
|
||
<div class="divPopper rprt" id="rdis_452446"><div><strong>3 beta-Hydroxysteroid dehydrogenase deficiency</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>452446</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.">C0342471</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Disease or Syndrome</dd></dl></div></div></div>
|
||
<div class="spaceAbove">Classic 3-beta-hydroxysteroid dehydrogenase deficiency is an autosomal recessive form of CAH characterized by a severe impairment of steroid biosynthesis in both the adrenals and the gonads, resulting in decreased excretion of cortisol and aldosterone and of progesterone, androgens, and estrogens by these tissues. Affected newborns exhibit signs and symptoms of glucocorticoid and mineralocorticoid deficiencies, which may be fatal if not diagnosed and treated early, especially in the severe salt-wasting form. Moreover, male newborns exhibit pseudohermaphroditism with incomplete masculinization of the external genitalia due to an impairment of androgen biosynthesis in the testis. In contrast, affected females exhibit normal sexual differentiation or partial virilization (summary by Rheaume et al., 1992).</div>
|
||
<div class="spaceAbove nowrap">See: <a href="/medgen/452446">Condition Record</a></div></div>
|
||
<div class="divPopper rprt" id="rdis_208657"><div><strong>3MC syndrome 3</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>208657</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.">C0796032</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Disease or Syndrome</dd></dl></div></div></div>
|
||
<div class="spaceAbove">The term '3MC syndrome' encompasses 4 rare autosomal recessive disorders that were previously designated the Carnevale, Mingarelli, Malpuech, and Michels syndromes, respectively. The main features of these syndromes are facial dysmorphism that includes hypertelorism, blepharophimosis, blepharoptosis, and highly arched eyebrows, which are present in 70 to 95% of cases. Cleft lip and palate, postnatal growth deficiency, cognitive impairment, and hearing loss are also consistent findings, occurring in 40 to 68% of cases. Craniosynostosis, radioulnar synostosis, and genital and vesicorenal anomalies occur in 20 to 30% of cases. Rare features include anterior chamber defects, cardiac anomalies, caudal appendage, umbilical hernia (omphalocele), and diastasis recti (summary by Rooryck et al., 2011). For a discussion of genetic heterogeneity of 3MC syndrome, see 3MC1 (257920).</div>
|
||
<div class="spaceAbove nowrap">See: <a href="/medgen/208657">Condition Record</a></div></div>
|
||
<div class="divPopper rprt" id="rdis_923028"><div><strong>Elsahy-Waters syndrome</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>923028</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.">C0809936</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Disease or Syndrome</dd></dl></div></div></div>
|
||
<div class="spaceAbove">The core phenotype of Elsahy-Waters syndrome consists of brachycephaly, facial asymmetry, marked hypertelorism, proptosis, blepharochalasis, midface hypoplasia, broad nose with concave nasal ridge, and prognathism; radicular dentin dysplasia with consequent obliterated pulp chambers, apical translucent cysts, recurrent infections, and early loss of teeth; vertebral fusions, particularly at C2-C3; and moderate mental retardation. Skin wrinkling over the glabellar region seems common, and in males, hypospadias has always been present. Inter- and intrafamilial variability has been reported regarding the presence of vertebral fusions, hearing loss, and dentigerous cysts. Midface hypoplasia, facial asymmetry, progressive dental anomalies, and impaired cognitive development become more evident in adulthood (summary by Castori et al., 2010).</div>
|
||
<div class="spaceAbove nowrap">See: <a href="/medgen/923028">Condition Record</a></div></div>
|
||
<div class="divPopper rprt" id="rdis_437064"><div><strong>Hypospadias 2, X-linked</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>437064</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.">C2677879</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Disease or Syndrome</dd></dl></div></div></div>
|
||
<div class="spaceAbove nowrap">See: <a href="/medgen/437064">Condition Record</a></div></div>
|
||
<div class="divPopper rprt" id="rdis_483746"><div><strong>46,XY sex reversal 3</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>483746</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.">C3489793</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Congenital Abnormality</dd></dl></div></div></div>
|
||
<div class="spaceAbove nowrap">See: <a href="/medgen/483746">Condition Record</a></div></div>
|
||
<div class="divPopper rprt" id="rdis_894912"><div><strong>Silver-Russell syndrome 3</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>894912</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.">C4225307</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Disease or Syndrome</dd></dl></div></div></div>
|
||
<div class="spaceAbove">Silver-Russell syndrome-3 (SRS3) is characterized by intrauterine growth retardation with relative macrocephaly, followed by feeding difficulties and postnatal growth restriction. Dysmorphic facial features include triangular face, prominent forehead, and low-set ears. Other variable features include limb defects, genitourinary and cardiovascular anomalies, hearing impairment, and developmental delay (Begemann et al., 2015; Yamoto et al., 2017). For a discussion of genetic heterogeneity of Silver-Russell syndrome, see SRS1 (180860).</div>
|
||
<div class="spaceAbove nowrap">See: <a href="/medgen/894912">Condition Record</a></div></div>
|
||
<div class="divPopper rprt" id="rdis_934653"><div><strong>Short stature, rhizomelic, with microcephaly, micrognathia, and developmental delay</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>934653</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.">C4310686</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Disease or Syndrome</dd></dl></div></div></div>
|
||
<div class="spaceAbove">The core features of short stature-micrognathia syndrome (SSMG) are intrauterine growth restriction (IUGR), postnatal short stature that is often rhizomelic, and micrognathia. Other common features include preterm birth, microcephaly, developmental delay, and genitourinary malformations in males. Transient liver dysfunction and glycosylation abnormalities during illness, giant cell hepatitis, hepatoblastoma, and cataracts have also been observed. Inter- and intrafamilial phenotypic severity varies greatly, from a relatively mild disorder to intrauterine death or stillbirth (Ritter et al., 2022).</div>
|
||
<div class="spaceAbove nowrap">See: <a href="/medgen/934653">Condition Record</a></div></div>
|
||
<div class="divPopper rprt" id="rdis_1373282"><div><strong>46,XX sex reversal 4</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>1373282</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.">C4479552</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Congenital Abnormality</dd></dl></div></div></div>
|
||
<div class="spaceAbove">Nonsyndromic 46,XX testicular disorders/differences of sex development (DSD) are characterized by: the presence of a 46,XX karyotype; external genitalia ranging from typical male to ambiguous; two testicles; azoospermia; absence of müllerian structures; and absence of other syndromic features, such as congenital anomalies outside of the genitourinary system, learning disorders / cognitive impairment, or behavioral issues. Approximately 85% of individuals with nonsyndromic 46,XX testicular DSD present after puberty with normal pubic hair and normal penile size but small testes, gynecomastia, and sterility resulting from azoospermia. Approximately 15% of individuals with nonsyndromic 46,XX testicular DSD present at birth with ambiguous genitalia. Gender role and gender identity are reported as male. If untreated, males with 46,XX testicular DSD experience the consequences of testosterone deficiency.</div>
|
||
<div class="spaceAbove nowrap">See: <a href="/medgen/1373282">Condition Record</a></div></div>
|
||
<div class="divPopper rprt" id="rdis_1648333"><div><strong>Cardiac-urogenital syndrome</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>1648333</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.">C4748946</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Disease or Syndrome</dd></dl></div></div></div>
|
||
<div class="spaceAbove">MYRF-related cardiac urogenital syndrome (MYRF-CUGS) is primarily characterized by anomalies of the internal and external genitalia, congenital heart defects, and eye anomalies. 46,XY individuals can have a range of anomalies of the genitalia, from isolated unilateral cryptorchidism to ambiguous genitalia to typical-appearing female genitalia. 46,XX individuals can have atypical internal genitalia including absent uterus, absent fallopian tubes, small or absent ovaries, absent vagina, or blind-ending vagina. A number of congenital heart defects have been described, with scimitar syndrome being the most common. Eye issues, present in a vast majority of affected individuals, include high hyperopia and nanophthalmos (an ocular malformation featuring short axial length due to small anterior and posterior segments with thickened choroid and sclera and normal lens volume). Because of the common nature of the eye anomalies, it has been suggested that this condition may be more accurately referred to as "MYRF-related ocular cardiac urogenital syndrome." Other features of the condition include a broad range of developmental delay /intellectual disability (DD/ID), from typical development and cognition to severe DD/ID; pulmonary abnormalities and diaphragmatic issues (congenital diaphragmatic hernia / diaphragmatic eventration); intestinal malrotation; and mild growth and feeding problems.</div>
|
||
<div class="spaceAbove nowrap">See: <a href="/medgen/1648333">Condition Record</a></div></div>
|
||
<div class="hangingIndent"><a title="click for more information" class="jig-ncbipopper" href="#rdis_452446" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">3 beta-Hydroxysteroid dehydrogenase deficiency</a></div>
|
||
<div class="hangingIndent"><a title="click for more information" class="jig-ncbipopper" href="#rdis_208657" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">3MC syndrome 3</a></div>
|
||
<div class="hangingIndent"><a title="click for more information" class="jig-ncbipopper" href="#rdis_1373282" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">46,XX sex reversal 4</a></div>
|
||
<div class="hangingIndent"><a title="click for more information" class="jig-ncbipopper" href="#rdis_483746" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">46,XY sex reversal 3</a></div>
|
||
<div class="hangingIndent"><a title="click for more information" class="jig-ncbipopper" href="#rdis_1648333" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Cardiac-urogenital syndrome</a></div><div class="jig-moreless" data-jigconfig="class: 'moveDown', moreText: 'See full list (10)', lessText: 'Show less', nodeBefore: 0"><span id="clinMore">
|
||
<div class="hangingIndent"><a title="click for more information" class="jig-ncbipopper" href="#rdis_923028" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Elsahy-Waters syndrome</a></div>
|
||
<div class="hangingIndent"><a title="click for more information" class="jig-ncbipopper" href="#rdis_437064" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Hypospadias 2, X-linked</a></div>
|
||
<div class="hangingIndent"><a title="click for more information" class="jig-ncbipopper" href="#rdis_934653" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Short stature, rhizomelic, with microcephaly, micrognathia, and developmental delay</a></div>
|
||
<div class="hangingIndent"><a title="click for more information" class="jig-ncbipopper" href="#rdis_894912" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Silver-Russell syndrome 3</a></div>
|
||
<div class="hangingIndent"><a title="click for more information" class="jig-ncbipopper" href="#rdis_61231" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Smith-Lemli-Opitz 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/26453174">Phenotype, genotype and gender identity in a large cohort of patients from India with 5α-reductase 2 deficiency.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Shabir I,
|
||
Khurana ML,
|
||
Joseph AA,
|
||
Eunice M,
|
||
Mehta M,
|
||
Ammini AC</span><br />
|
||
<span class="medgenPMjournal">Andrology</span>
|
||
2015 Nov;3(6):1132-9.
|
||
Epub 2015 Oct 9
|
||
doi: 10.1111/andr.12108.
|
||
<span class="bold">PMID: </span><a href="/pubmed/26453174" target="_blank">26453174</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/22581420">Ambiguous genitalia: what prenatal genetic testing is practical?</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Adam MP,
|
||
Fechner PY,
|
||
Ramsdell LA,
|
||
Badaru A,
|
||
Grady RE,
|
||
Pagon RA,
|
||
McCauley E,
|
||
Cheng EY,
|
||
Parisi MA,
|
||
Shnorhavorian M</span><br />
|
||
<span class="medgenPMjournal">Am J Med Genet A</span>
|
||
2012 Jun;158A(6):1337-43.
|
||
Epub 2012 May 11
|
||
doi: 10.1002/ajmg.a.35338.
|
||
<span class="bold">PMID: </span><a href="/pubmed/22581420" target="_blank">22581420</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/9329414">Etiologic classification of severe hypospadias: implications for prognosis and management.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Albers N,
|
||
Ulrichs C,
|
||
Glüer S,
|
||
Hiort O,
|
||
Sinnecker GH,
|
||
Mildenberger H,
|
||
Brodehl J</span><br />
|
||
<span class="medgenPMjournal">J Pediatr</span>
|
||
1997 Sep;131(3):386-92.
|
||
doi: 10.1016/s0022-3476(97)80063-7.
|
||
<span class="bold">PMID: </span><a href="/pubmed/9329414" target="_blank">9329414</a></div>
|
||
<div><a target="_blank" href="https://pubmed.ncbi.nlm.nih.gov/?term=(%22penoscrotal%20hypospadias%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 (3)</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/33468338">How Far Should We Explore Hypospadias? Next-generation Sequencing Applied to a Large Cohort of Hypospadiac Patients.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Ea V,
|
||
Bergougnoux A,
|
||
Philibert P,
|
||
Servant-Fauconnet N,
|
||
Faure A,
|
||
Breaud J,
|
||
Gaspari L,
|
||
Sultan C,
|
||
Paris F,
|
||
Kalfa N</span><br />
|
||
<span class="medgenPMjournal">Eur Urol</span>
|
||
2021 Apr;79(4):507-515.
|
||
Epub 2021 Jan 16
|
||
doi: 10.1016/j.eururo.2020.12.036.
|
||
<span class="bold">PMID: </span><a href="/pubmed/33468338" target="_blank">33468338</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/30078147">Single-nucleotide and copy-number variance related to severity of hypospadias.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Singh N,
|
||
Gupta DK,
|
||
Sharma S,
|
||
Sahu DK,
|
||
Mishra A,
|
||
Yadav DK,
|
||
Rawat J,
|
||
Singh AK</span><br />
|
||
<span class="medgenPMjournal">Pediatr Surg Int</span>
|
||
2018 Sep;34(9):991-1008.
|
||
Epub 2018 Aug 4
|
||
doi: 10.1007/s00383-018-4330-5.
|
||
<span class="bold">PMID: </span><a href="/pubmed/30078147" target="_blank">30078147</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/29137943">Cystoscopic-assisted laparoscopic excision of prostatic utricle.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Mostafa IA,
|
||
Woodward MN,
|
||
Shalaby MS</span><br />
|
||
<span class="medgenPMjournal">J Pediatr Urol</span>
|
||
2018 Feb;14(1):77-78.
|
||
Epub 2017 Oct 27
|
||
doi: 10.1016/j.jpurol.2017.09.024.
|
||
<span class="bold">PMID: </span><a href="/pubmed/29137943" target="_blank">29137943</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/27052295">Gonadoblastoma in patients with 45,X/46,XY mosaicism: A 16-year experience.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Coyle D,
|
||
Kutasy B,
|
||
Han Suyin K,
|
||
Antao B,
|
||
Lynch SA,
|
||
McDermott MB,
|
||
O'Connell SM,
|
||
Quinn F</span><br />
|
||
<span class="medgenPMjournal">J Pediatr Urol</span>
|
||
2016 Oct;12(5):283.e1-283.e7.
|
||
Epub 2016 Mar 3
|
||
doi: 10.1016/j.jpurol.2016.02.009.
|
||
<span class="bold">PMID: </span><a href="/pubmed/27052295" target="_blank">27052295</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/975596">Infantile XX male: a case report.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Miyashita A,
|
||
Isurugi K,
|
||
Aoki H</span><br />
|
||
<span class="medgenPMjournal">Clin Genet</span>
|
||
1976 Oct;10(4):208-13.
|
||
doi: 10.1111/j.1399-0004.1976.tb00035.x.
|
||
<span class="bold">PMID: </span><a href="/pubmed/975596" target="_blank">975596</a></div>
|
||
<div><a target="_blank" href="https://pubmed.ncbi.nlm.nih.gov/?term=%22Penoscrotal%20hypospadias%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 (47)</a></div><h3 class="subhead">Diagnosis</h3>
|
||
<div class="nl"><a target="_blank" href="/pubmed/37182847">A newborn with ectrodactyly, tetralogy of Fallot, esophageal atresia, hypospadias and TP63 gene mutation: A new type of EEC Syndrome?</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Sodero G,
|
||
Colonna AT,
|
||
Purcaro V,
|
||
Onesimo R,
|
||
Zampino G,
|
||
Vento G</span><br />
|
||
<span class="medgenPMjournal">J Neonatal Perinatal Med</span>
|
||
2023;16(2):349-353.
|
||
doi: 10.3233/NPM-231217.
|
||
<span class="bold">PMID: </span><a href="/pubmed/37182847" target="_blank">37182847</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/33468338">How Far Should We Explore Hypospadias? Next-generation Sequencing Applied to a Large Cohort of Hypospadiac Patients.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Ea V,
|
||
Bergougnoux A,
|
||
Philibert P,
|
||
Servant-Fauconnet N,
|
||
Faure A,
|
||
Breaud J,
|
||
Gaspari L,
|
||
Sultan C,
|
||
Paris F,
|
||
Kalfa N</span><br />
|
||
<span class="medgenPMjournal">Eur Urol</span>
|
||
2021 Apr;79(4):507-515.
|
||
Epub 2021 Jan 16
|
||
doi: 10.1016/j.eururo.2020.12.036.
|
||
<span class="bold">PMID: </span><a href="/pubmed/33468338" target="_blank">33468338</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/30907385">Cromosoma 13 en anillo.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Cammarata-Scalisi F,
|
||
Briceño Y,
|
||
Cegarra E,
|
||
Montilla D</span><br />
|
||
<span class="medgenPMjournal">Bol Med Hosp Infant Mex</span>
|
||
2019;76(2):100-103.
|
||
doi: 10.24875/BMHIM.18000108.
|
||
<span class="bold">PMID: </span><a href="/pubmed/30907385" target="_blank">30907385</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/29137943">Cystoscopic-assisted laparoscopic excision of prostatic utricle.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Mostafa IA,
|
||
Woodward MN,
|
||
Shalaby MS</span><br />
|
||
<span class="medgenPMjournal">J Pediatr Urol</span>
|
||
2018 Feb;14(1):77-78.
|
||
Epub 2017 Oct 27
|
||
doi: 10.1016/j.jpurol.2017.09.024.
|
||
<span class="bold">PMID: </span><a href="/pubmed/29137943" target="_blank">29137943</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/21538377">Prenatal two- and three-dimensional imaging in two cases of severe penoscrotal hypospadias.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Bamberg C,
|
||
Brauer M,
|
||
Degenhardt P,
|
||
Szekessy DP,
|
||
Henrich W</span><br />
|
||
<span class="medgenPMjournal">J Clin Ultrasound</span>
|
||
2011 Nov-Dec;39(9):539-43.
|
||
Epub 2011 May 2
|
||
doi: 10.1002/jcu.20832.
|
||
<span class="bold">PMID: </span><a href="/pubmed/21538377" target="_blank">21538377</a></div>
|
||
<div><a target="_blank" href="https://pubmed.ncbi.nlm.nih.gov/?term=%22Penoscrotal%20hypospadias%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 (43)</a></div><h3 class="subhead">Therapy</h3>
|
||
<div class="nl"><a target="_blank" href="/pubmed/34016541">Magnitude of post-urethroplasty urinary tract infections in children with hypospadias at a tertiary hospital in Kenya.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Irene M,
|
||
Osawa F,
|
||
Kuria K,
|
||
Lessan J</span><br />
|
||
<span class="medgenPMjournal">J Pediatr Urol</span>
|
||
2021 Aug;17(4):518.e1-518.e5.
|
||
Epub 2021 Apr 28
|
||
doi: 10.1016/j.jpurol.2021.04.012.
|
||
<span class="bold">PMID: </span><a href="/pubmed/34016541" target="_blank">34016541</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/32800482">Five years' experience of double faced tubularized preputial flap for penoscrotal hypospadias repair in pediatrics.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Daboos M,
|
||
Helal AA,
|
||
Salama A</span><br />
|
||
<span class="medgenPMjournal">J Pediatr Urol</span>
|
||
2020 Oct;16(5):673.e1-673.e7.
|
||
Epub 2020 Aug 3
|
||
doi: 10.1016/j.jpurol.2020.07.037.
|
||
<span class="bold">PMID: </span><a href="/pubmed/32800482" target="_blank">32800482</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/17852627">CO2 laser desiccation of urethral hair post-penoscrotal hypospadias repair.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Cohen S,
|
||
Livne PM,
|
||
Ad-El D,
|
||
Lapidoth M</span><br />
|
||
<span class="medgenPMjournal">J Cosmet Laser Ther</span>
|
||
2007 Dec;9(4):241-3.
|
||
doi: 10.1080/14764170701446898.
|
||
<span class="bold">PMID: </span><a href="/pubmed/17852627" target="_blank">17852627</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/16586447">Clomiphene and hypospadias on a detailed level: signal or chance?</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Meijer WM,
|
||
de Jong-Van den Berg LT,
|
||
van den Berg MD,
|
||
Verheij JB,
|
||
de Walle HE</span><br />
|
||
<span class="medgenPMjournal">Birth Defects Res A Clin Mol Teratol</span>
|
||
2006 Apr;76(4):249-52.
|
||
doi: 10.1002/bdra.20243.
|
||
<span class="bold">PMID: </span><a href="/pubmed/16586447" target="_blank">16586447</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/2248513">5 alpha-reductase deficiency without hypospadias.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Ng WK,
|
||
Taylor NF,
|
||
Hughes IA,
|
||
Taylor J,
|
||
Ransley PG,
|
||
Grant DB</span><br />
|
||
<span class="medgenPMjournal">Arch Dis Child</span>
|
||
1990 Oct;65(10):1166-7.
|
||
doi: 10.1136/adc.65.10.1166.
|
||
<span class="bold">PMID: </span><a href="/pubmed/2248513" target="_blank">2248513</a><a href="/pmc/articles/PMC1792348" target="_blank" class="PubMedFree">Free PMC Article</a></div>
|
||
<div><a target="_blank" href="https://pubmed.ncbi.nlm.nih.gov/?term=%22Penoscrotal%20hypospadias%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 (14)</a></div><h3 class="subhead">Prognosis</h3>
|
||
<div class="nl"><a target="_blank" href="/pubmed/35056348">A Rare Case of Prostatic Utricle with Crossover Vas Deferens in Children.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Wu TH,
|
||
Hsu YJ,
|
||
Chin TW,
|
||
Fu YW</span><br />
|
||
<span class="medgenPMjournal">Medicina (Kaunas)</span>
|
||
2021 Dec 27;58(1)
|
||
doi: 10.3390/medicina58010040.
|
||
<span class="bold">PMID: </span><a href="/pubmed/35056348" target="_blank">35056348</a><a href="/pmc/articles/PMC8780077" target="_blank" class="PubMedFree">Free PMC Article</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/26455467">Assessment of postoperative outcomes of hypospadias repair with validated questionnaires.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Liu MM,
|
||
Holland AJ,
|
||
Cass DT</span><br />
|
||
<span class="medgenPMjournal">J Pediatr Surg</span>
|
||
2015 Dec;50(12):2071-4.
|
||
Epub 2015 Sep 1
|
||
doi: 10.1016/j.jpedsurg.2015.08.047.
|
||
<span class="bold">PMID: </span><a href="/pubmed/26455467" target="_blank">26455467</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/25265766">Factors affecting results of hypospadias repair: single technique and surgeon.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Viseshsindh W</span><br />
|
||
<span class="medgenPMjournal">J Med Assoc Thai</span>
|
||
2014 Jul;97(7):694-8.
|
||
<span class="bold">PMID: </span><a href="/pubmed/25265766" target="_blank">25265766</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/14501667">Results of single staged hypospadias surgery to repair penoscrotal hypospadias with bifid scrotum or penoscrotal transposition.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">DeFoor W,
|
||
Wacksman J</span><br />
|
||
<span class="medgenPMjournal">J Urol</span>
|
||
2003 Oct;170(4 Pt 2):1585-8; discussion 1588.
|
||
doi: 10.1097/01.ju.0000084141.51617.1b.
|
||
<span class="bold">PMID: </span><a href="/pubmed/14501667" target="_blank">14501667</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/9245853">Phenotypic diversity in siblings with partial androgen insensitivity syndrome.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Evans BA,
|
||
Hughes IA,
|
||
Bevan CL,
|
||
Patterson MN,
|
||
Gregory JW</span><br />
|
||
<span class="medgenPMjournal">Arch Dis Child</span>
|
||
1997 Jun;76(6):529-31.
|
||
doi: 10.1136/adc.76.6.529.
|
||
<span class="bold">PMID: </span><a href="/pubmed/9245853" target="_blank">9245853</a><a href="/pmc/articles/PMC1717223" target="_blank" class="PubMedFree">Free PMC Article</a></div>
|
||
<div><a target="_blank" href="https://pubmed.ncbi.nlm.nih.gov/?term=%22Penoscrotal%20hypospadias%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 (26)</a></div><h3 class="subhead">Clinical prediction guides</h3>
|
||
<div class="nl"><a target="_blank" href="/pubmed/34531163">The tunica-vaginalis flap to prevent postoperative fistula following severe hypospadias repair: Has the search for Holy Grail ended?</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Radhakrishnan CN,
|
||
Radhakrishna V</span><br />
|
||
<span class="medgenPMjournal">Actas Urol Esp (Engl Ed)</span>
|
||
2021 Oct;45(8):552-556.
|
||
Epub 2021 Sep 14
|
||
doi: 10.1016/j.acuroe.2021.07.005.
|
||
<span class="bold">PMID: </span><a href="/pubmed/34531163" target="_blank">34531163</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/29278518">Identification of an AR mutation in Klinefelter syndrome during evaluation for penoscrotal hypospadias.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Acar S,
|
||
Tuhan H,
|
||
Bora E,
|
||
Demir K,
|
||
Onay H,
|
||
Erçal D,
|
||
Böber E,
|
||
Abacı A</span><br />
|
||
<span class="medgenPMjournal">Hormones (Athens)</span>
|
||
2017 Jul;16(3):313-317.
|
||
doi: 10.14310/horm.2002.1741.
|
||
<span class="bold">PMID: </span><a href="/pubmed/29278518" target="_blank">29278518</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/27318548">Long-term functional outcomes after penoscrotal hypospadias repair: A retrospective comparative study of proximal TIP, Onlay, and Duckett.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Hueber PA,
|
||
Salgado Diaz M,
|
||
Chaussy Y,
|
||
Franc-Guimond J,
|
||
Barrieras D,
|
||
Houle AM</span><br />
|
||
<span class="medgenPMjournal">J Pediatr Urol</span>
|
||
2016 Aug;12(4):198.e1-6.
|
||
Epub 2016 Jun 2
|
||
doi: 10.1016/j.jpurol.2016.04.034.
|
||
<span class="bold">PMID: </span><a href="/pubmed/27318548" target="_blank">27318548</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/26455467">Assessment of postoperative outcomes of hypospadias repair with validated questionnaires.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Liu MM,
|
||
Holland AJ,
|
||
Cass DT</span><br />
|
||
<span class="medgenPMjournal">J Pediatr Surg</span>
|
||
2015 Dec;50(12):2071-4.
|
||
Epub 2015 Sep 1
|
||
doi: 10.1016/j.jpedsurg.2015.08.047.
|
||
<span class="bold">PMID: </span><a href="/pubmed/26455467" target="_blank">26455467</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/26043854">Uniparental Disomy in Somatic Mosaicism 45,X/46,XY/46,XX Associated with Ambiguous Genitalia.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Serra A,
|
||
Denzer F,
|
||
Hiort O,
|
||
Barth TF,
|
||
Henne-Bruns D,
|
||
Barbi G,
|
||
Rettenberger G,
|
||
Wabitsch M,
|
||
Just W,
|
||
Leriche C</span><br />
|
||
<span class="medgenPMjournal">Sex Dev</span>
|
||
2015;9(3):136-43.
|
||
Epub 2015 Jun 3
|
||
doi: 10.1159/000430897.
|
||
<span class="bold">PMID: </span><a href="/pubmed/26043854" target="_blank">26043854</a></div>
|
||
<div><a target="_blank" href="https://pubmed.ncbi.nlm.nih.gov/?term=%22Penoscrotal%20hypospadias%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 (21)</a></div></div>
|
||
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|
||
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|
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<div class="supplemental col three_col last">
|
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<h2 class="offscreen_noflow">Supplemental Content</h2>
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<div class="portlet_content ln"><ul><li><a href="https://clinicaltrials.gov/search?cond=Penoscrotal%20hypospadias" target="_blank">ClinicalTrials.gov</a></li></ul></div>
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<div class="portlet_head mgSectionHead ui-widget-header"><h1 class="nl" id="Practice_guidelines">Practice guidelines</h1><a sid="121" href="#" class="portlet_shutter" title="Show/hide content"></a></div>
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<div class="portlet_content ln"><ul class="a_poppers"><li><a target="_blank" href="https://pubmed.ncbi.nlm.nih.gov/?term=(%22penoscrotal%20hypospadias%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">PubMed</a><div class="help-popup">See practice and clinical guidelines in PubMed. The search results may include broader topics and may not capture all published guidelines. See the <a href="/medgen/docs/faq/" title="Frequently asked questions" target="_blank">FAQ</a> for details.</div></li></ul></div>
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<a href="/pubmed/clinical?term=Penoscrotal%20hypospadias" ref="ncbi_uid=&discoId=gtr_reviews&linkpos=1&linkpostotal=2" target="_blank">PubMed Clinical Queries</a>
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<a href="/pubmed?term=Penoscrotal%20hypospadias%20AND%20humans[mesh]%20AND%20review[publication%20type]" ref="ncbi_uid=&discoId=gtr_reviews&linkpos=2&linkpostotal=2" target="_blank">Reviews in PubMed</a>
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<h3>Related information</h3>
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