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Pituitary stalk interruption syndrome

MedGen UID:
883774
Concept ID:
C4053775
Disease or Syndrome
Synonyms: Ectopic neurohypophysis; ectopic neurohypophysis; hypoplastic anterior pituitary, missing stalk, and ectopic posterior pituitary; Pituitary Stalk Interruption Syndrome; pituitary stalk interruption syndrome; PSIS
SNOMED CT: Pituitary stalk interruption syndrome (715727009); Ectopic neurohypophysis (715727009)
Modes of inheritance:
Autosomal recessive inheritance
MedGen UID:
141025
Concept ID:
C0441748
Intellectual Product
Source: Orphanet
A mode of inheritance that is observed for traits related to a gene encoded on one of the autosomes (i.e., the human chromosomes 1-22) in which a trait manifests in individuals with two pathogenic alleles, either homozygotes (two copies of the same mutant allele) or compound heterozygotes (whereby each copy of a gene has a distinct mutant allele).
Autosomal dominant inheritance
MedGen UID:
141047
Concept ID:
C0443147
Intellectual Product
Source: Orphanet
A mode of inheritance that is observed for traits related to a gene encoded on one of the autosomes (i.e., the human chromosomes 1-22) in which a trait manifests in heterozygotes. In the context of medical genetics, an autosomal dominant disorder is caused when a single copy of the mutant allele is present. Males and females are affected equally, and can both transmit the disorder with a risk of 50% for each child of inheriting the mutant allele.
Not genetically inherited
MedGen UID:
988794
Concept ID:
CN307044
Finding
Source: Orphanet
clinical entity without genetic inheritance.
 
Monarch Initiative: MONDO:0019828
Orphanet: ORPHA95496

Definition

A congenital abnormality of the pituitary that is responsible for pituitary deficiency with usual manifestation of a triad of very thin or interrupted pituitary stalk, an ectopic (or absent) posterior pituitary and hypoplasia or aplasia of the anterior pituitary. In the majority of cases no genetic cause is found, however, the presence of familial forms and the association with microphallus and congenital abnormalities, particularly of the eyes, suggest an antenatal origin. [from SNOMEDCT_US]

Term Hierarchy

CClinical test,  RResearch test,  OOMIM,  GGeneReviews,  VClinVar  
  • CROGVPituitary stalk interruption syndrome

Professional guidelines

PubMed

Aouchiche K, Charmensat C, Morgane P, Teinturier C, Bretones P, Brac de la Perriere A, Layet V, Bouhours-Nouet N, Vantyghem MC, Haine E, Nunes-Sanchez ML, Camard O, Baron S, Castinetti F, Barlier A, Brue T, Reynaud R, Saveanu A; Genhypopit Network
Eur J Endocrinol 2025 Feb 1;192(2):110-118. doi: 10.1093/ejendo/lvaf015. PMID: 39938560
Lauffer P, Zwaveling-Soonawala N, Naafs JC, Boelen A, van Trotsenburg ASP
Front Endocrinol (Lausanne) 2021;12:686317. Epub 2021 Sep 9 doi: 10.3389/fendo.2021.686317. PMID: 34566885Free PMC Article
Voutetakis A, Sertedaki A, Dacou-Voutetakis C
Curr Opin Pediatr 2016 Aug;28(4):545-50. doi: 10.1097/MOP.0000000000000378. PMID: 27386973

Recent clinical studies

Etiology

Sridhar S, Raja BR, Priyanka R, Natarajan S, Soundararajan S, Natarajan V
Pituitary 2023 Oct;26(5):622-628. Epub 2023 Sep 11 doi: 10.1007/s11102-023-01351-2. PMID: 37695468
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
J Clin Endocrinol Metab 2023 Jan 17;108(2):323-330. doi: 10.1210/clinem/dgac583. PMID: 36201475
Zhang Y, Zhao X, Chen M
Neuro Endocrinol Lett 2021 Jul;42(3):150-156. PMID: 34279857
David O, Eskin-Schwartz M, Ling G, Dolgin V, Kristal E, Benkowitz E, Osyntsov L, Gradstein L, Birk OS, Loewenthal N, Yerushalmi B
Clin Genet 2020 Sep;98(3):303-307. Epub 2020 Aug 3 doi: 10.1111/cge.13805. PMID: 32617964
Dupuis-Girod S, Gluckman E, Souberbielle JC, Brauner R
J Pediatr 2001 Jan;138(1):129-33. doi: 10.1067/mpd.2001.109200. PMID: 11148528

Diagnosis

Ousirimaneechai K, Snabboon T
Pan Afr Med J 2023;44:144. Epub 2023 Mar 23 doi: 10.11604/pamj.2023.44.144.34585. PMID: 37396693Free PMC Article
Lauffer P, Zwaveling-Soonawala N, Naafs JC, Boelen A, van Trotsenburg ASP
Front Endocrinol (Lausanne) 2021;12:686317. Epub 2021 Sep 9 doi: 10.3389/fendo.2021.686317. PMID: 34566885Free PMC Article
Gosi SK, Kanduri S, Garla VV
BMJ Case Rep 2019 Apr 14;12(4) doi: 10.1136/bcr-2019-230133. PMID: 30988112Free PMC Article
Voutetakis A, Sertedaki A, Dacou-Voutetakis C
Curr Opin Pediatr 2016 Aug;28(4):545-50. doi: 10.1097/MOP.0000000000000378. PMID: 27386973
Dekeyzer S, Herregods N, Meersschaut V, De Schepper J
JBR-BTR 2013 Nov-Dec;96(6):393. doi: 10.5334/jbr-btr.478. PMID: 24617191

Therapy

Ravichandran R, Saikia UK, Bhuyan AK, Baro A
Indian Pediatr 2024 Feb 15;61(2):154-157. PMID: 38321728
Huang Q, Mao J, Wang X, Yu B, Ma W, Ji W, Zhu Y, Zhang R, Sun B, Zhang J, Nie M, Wu X
Endocr Pract 2022 May;28(5):521-527. Epub 2022 Feb 24 doi: 10.1016/j.eprac.2022.02.008. PMID: 35218954
Lauffer P, Zwaveling-Soonawala N, Naafs JC, Boelen A, van Trotsenburg ASP
Front Endocrinol (Lausanne) 2021;12:686317. Epub 2021 Sep 9 doi: 10.3389/fendo.2021.686317. PMID: 34566885Free PMC Article
El Chehadeh S, Bensignor C, de Monléon JV, Méjean N, Huet F
Ann Endocrinol (Paris) 2010 Mar;71(2):102-10. Epub 2009 Dec 30 doi: 10.1016/j.ando.2009.11.007. PMID: 20044069
Dupuis-Girod S, Gluckman E, Souberbielle JC, Brauner R
J Pediatr 2001 Jan;138(1):129-33. doi: 10.1067/mpd.2001.109200. PMID: 11148528

Prognosis

Diwaker C, Thadani P, Memon SS, Sarathi V, Lila AR, Arya S, Krishnappa B, Karlekar M, Patil VA, Shah N, Bandgar T
Pituitary 2022 Aug;25(4):645-652. Epub 2022 Jun 24 doi: 10.1007/s11102-022-01243-x. PMID: 35749012
Lauffer P, Zwaveling-Soonawala N, Naafs JC, Boelen A, van Trotsenburg ASP
Front Endocrinol (Lausanne) 2021;12:686317. Epub 2021 Sep 9 doi: 10.3389/fendo.2021.686317. PMID: 34566885Free PMC Article
Wang Q, Meng X, Sun Y, Liu F, Xu C, Qiao Y, Yang J, Li G, Wang Y
Medicine (Baltimore) 2021 May 14;100(19):e25843. doi: 10.1097/MD.0000000000025843. PMID: 34106625Free PMC Article
Zhang W, Qian F, Lu G, Wu Y, Li R, Xia L, Zhao R, Lin Y, Gu M, Chen W
Medicine (Baltimore) 2020 Dec 11;99(50):e23266. doi: 10.1097/MD.0000000000023266. PMID: 33327247Free PMC Article
Reynaud R, Albarel F, Saveanu A, Kaffel N, Castinetti F, Lecomte P, Brauner R, Simonin G, Gaudart J, Carmona E, Enjalbert A, Barlier A, Brue T
Eur J Endocrinol 2011 Apr;164(4):457-65. Epub 2011 Jan 26 doi: 10.1530/EJE-10-0892. PMID: 21270112

Clinical prediction guides

Fava D, Guglielmi D, Pepino C, Angelelli A, Casalini E, Varotto C, Panciroli M, Tedesco C, Camia T, Naim A, Allegri AEM, Patti G, Napoli F, Gastaldi R, Parodi S, Salerno M, Maghnie M, Di Iorgi N
J Clin Endocrinol Metab 2024 Dec 18;110(1):78-90. doi: 10.1210/clinem/dgae408. PMID: 38913686Free PMC Article
Brauner R, Bignon-Topalovic J, Bashamboo A, McElreavey K
PLoS One 2023;18(12):e0292664. Epub 2023 Dec 14 doi: 10.1371/journal.pone.0292664. PMID: 38096238Free PMC Article
Correa-Silva SR, Kunii I, Mitne-Neto M, Moreira CM, Dias-da-Silva MR, Abucham J
J Neuroendocrinol 2023 Jan;35(1):e13221. Epub 2022 Dec 10 doi: 10.1111/jne.13221. PMID: 36495109
Diwaker C, Thadani P, Memon SS, Sarathi V, Lila AR, Arya S, Krishnappa B, Karlekar M, Patil VA, Shah N, Bandgar T
Pituitary 2022 Aug;25(4):645-652. Epub 2022 Jun 24 doi: 10.1007/s11102-022-01243-x. PMID: 35749012
Voutetakis A
Handb Clin Neurol 2021;181:9-27. doi: 10.1016/B978-0-12-820683-6.00002-6. PMID: 34238482

Recent systematic reviews

Wang S, Qin Q, Jiang D, Xiao Y, Ye L, Jiang X, Guo Q
Front Endocrinol (Lausanne) 2024;15:1338781. Epub 2024 Feb 23 doi: 10.3389/fendo.2024.1338781. PMID: 38464967Free PMC Article
Hwang J, Jo SW, Kwon EB, Lee SA, Chang SK
Neuroradiology 2021 Jul;63(7):1121-1133. Epub 2021 Feb 20 doi: 10.1007/s00234-021-02665-3. PMID: 33611620

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