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Interrupted pituitary stalk

MedGen UID:
1841791
•Concept ID:
C5826809
•
Congenital Abnormality
HPO: HP:0034978

Definition

A developmental defect characterized by a discontinuity of the pituitary stalk. The pituitary stalk, also known as the infundibulum or infundibular stalk, is the connection between the hypothalamus and the pituitary gland. [from HPO]

Term Hierarchy

CClinical test,  RResearch test,  OOMIM,  GGeneReviews,  VClinVar  
  • CROGVInterrupted pituitary stalk

Conditions with this feature

Pituitary hormone deficiency, combined or isolated, 8
MedGen UID:
1841011
•Concept ID:
C5830375
•
Disease or Syndrome
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).
See: Condition Record
Pituitary hormone deficiency, combined or isolated, 8

Professional guidelines

PubMed

Diagnosis and Management of Central Congenital Hypothyroidism.
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
Clinical and genetic characteristics of Dutch children with central congenital hypothyroidism, early detected by neonatal screening.
Naafs JC, Verkerk PH, Fliers E, van Trotsenburg ASP, Zwaveling-Soonawala N
Eur J Endocrinol 2020 Dec;183(6):627-636. doi: 10.1530/EJE-20-0833. PMID: 33107432
Pituitary stalk interruption syndrome: cause, clinical manifestations, diagnosis, and management.
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

Ectopic posterior pituitary and stalk abnormality predicts severity and coexisting hormone deficiencies in patients with congenital growth hormone deficiency.
Jagtap VS, Acharya SV, Sarathi V, Lila AR, Budyal SR, Kasaliwal R, Sankhe SS, Bandgar TR, Menon PS, Shah NS
Pituitary 2012 Jun;15(2):243-50. doi: 10.1007/s11102-011-0321-4. PMID: 21667124
Phenotype and radiological correlation in patients with growth hormone deficiency.
Acharya SV, Gopal RA, Lila A, Sanghvi DS, Menon PS, Bandgar TR, Shah NS
Indian J Pediatr 2011 Jan;78(1):49-54. Epub 2010 Oct 7 doi: 10.1007/s12098-010-0211-1. PMID: 20927607

Diagnosis

Exome sequencing in 16 patients with pituitary stalk interruption syndrome: A monocentric study.
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
One Case of Pituitary Stalk Interruption Syndrome Associated with Liver Cirrhosis.
He H, Li DM
Endocr Metab Immune Disord Drug Targets 2023;23(9):1229-1234. doi: 10.2174/1871530323666230228110650. PMID: 36852803
Pituitary stalk interruption syndrome: A rare case report and literature review.
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
DIAGNOSIS OF ENDOCRINE DISEASE: Pituitary stalk interruption syndrome: etiology and clinical manifestations.
Vergier J, Castinetti F, Saveanu A, Girard N, Brue T, Reynaud R
Eur J Endocrinol 2019 Nov;181(5):R199-R209. doi: 10.1530/EJE-19-0168. PMID: 31480013
Phenotype and radiological correlation in patients with growth hormone deficiency.
Acharya SV, Gopal RA, Lila A, Sanghvi DS, Menon PS, Bandgar TR, Shah NS
Indian J Pediatr 2011 Jan;78(1):49-54. Epub 2010 Oct 7 doi: 10.1007/s12098-010-0211-1. PMID: 20927607

Therapy

One Case of Pituitary Stalk Interruption Syndrome Associated with Liver Cirrhosis.
He H, Li DM
Endocr Metab Immune Disord Drug Targets 2023;23(9):1229-1234. doi: 10.2174/1871530323666230228110650. PMID: 36852803
Does pituitary stalk function improve with age?
Desikan V, Roque C, Wilson TA
J Pediatr Endocrinol Metab 2009 Sep;22(9):859-62. doi: 10.1515/jpem.2009.22.9.859. PMID: 19960896

Prognosis

Pituitary stalk interruption syndrome: A rare case report and literature review.
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
Severe, persistent neonatal hypoglycemia as a presenting feature in patients with congenital hypopituitarism: a review of our case series.
Mehta S, Brar PC
J Pediatr Endocrinol Metab 2019 Jul 26;32(7):767-774. doi: 10.1515/jpem-2019-0075. PMID: 31211689
Combined Pituitary Hormone Deficiency Caused by a Synonymous HESX1 Gene Mutation.
Coutinho E, Brandão CM, Lemos MC
J Clin Endocrinol Metab 2019 Jul 1;104(7):2851-2854. doi: 10.1210/jc.2019-00081. PMID: 30888394
Ectopic posterior pituitary and stalk abnormality predicts severity and coexisting hormone deficiencies in patients with congenital growth hormone deficiency.
Jagtap VS, Acharya SV, Sarathi V, Lila AR, Budyal SR, Kasaliwal R, Sankhe SS, Bandgar TR, Menon PS, Shah NS
Pituitary 2012 Jun;15(2):243-50. doi: 10.1007/s11102-011-0321-4. PMID: 21667124

Clinical prediction guides

Exome sequencing in 16 patients with pituitary stalk interruption syndrome: A monocentric study.
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
CDON gene contributes to pituitary stalk interruption syndrome associated with unilateral facial and abducens nerve palsy.
Obara-Moszyńska M, Budny B, Kałużna M, Zawadzka K, Jamsheer A, Rohde A, Ruchała M, Ziemnicka K, Niedziela M
J Appl Genet 2021 Dec;62(4):621-629. Epub 2021 Jul 8 doi: 10.1007/s13353-021-00649-w. PMID: 34235642Free PMC Article
Combined Pituitary Hormone Deficiency Caused by a Synonymous HESX1 Gene Mutation.
Coutinho E, Brandão CM, Lemos MC
J Clin Endocrinol Metab 2019 Jul 1;104(7):2851-2854. doi: 10.1210/jc.2019-00081. PMID: 30888394
Ectopic posterior pituitary and stalk abnormality predicts severity and coexisting hormone deficiencies in patients with congenital growth hormone deficiency.
Jagtap VS, Acharya SV, Sarathi V, Lila AR, Budyal SR, Kasaliwal R, Sankhe SS, Bandgar TR, Menon PS, Shah NS
Pituitary 2012 Jun;15(2):243-50. doi: 10.1007/s11102-011-0321-4. PMID: 21667124
Pituitary magnetic resonance imaging and function in patients with growth hormone deficiency with and without mutations in GHRH-R, GH-1, or PROP-1 genes.
Osorio MG, Marui S, Jorge AA, Latronico AC, Lo LS, Leite CC, Estefan V, Mendonca BB, Arnhold IJ
J Clin Endocrinol Metab 2002 Nov;87(11):5076-84. doi: 10.1210/jc.2001-011936. PMID: 12414875

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      Interrupted pituitary stalk
      MedGen
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