pituitary stalk interruption syndrome
Findings
No curated finding names pituitary stalk interruption syndrome yet. Everything below is reference data from Mondo, HPO and GenCC, not evidence about what affects it.
Definition
Pituitary stalk interruption syndrome (PSIS) is a congenital abnormality of the pituitary that is responsible for pituitary deficiency and is usually characterized by the triad of a very thin or interrupted pituitary stalk, an ectopic (or absent) posterior pituitary (EPP) and hypoplasia or aplasia of the anterior pituitary visible on MRI. In some patients the abnormality may be limited to EPP (also called ectopic neurohypophysis) or to an interrupted pituitary stalk.
Definition from the Mondo Disease Ontology (MONDO:0019828), read 2026-09-29. CC BY 4.0.
- Onset and course
- Death in infancy
HPO, annotations 2026-09-02
Features
16 features
What the disease is reported to present with, and how often among people who have it — never how often a feature means the disease. HPO, annotations 2026-09-02.
- Ectopic posterior pituitaryHPOHP:0011755
- Obligate (100% of cases)
- Abnormality of the hypothalamus-pituitary axisHPOHP:0000864
- Very frequent (80% to 99% of cases)
- Failure to thriveHPOHP:0001508
- Very frequent (80% to 99% of cases)
- Short statureHPOHP:0004322
- Very frequent (80% to 99% of cases)
- Delayed pubertyHPOHP:0000823
- Frequent (30% to 79% of cases)
- HypoglycemiaHPOHP:0001943
- Frequent (30% to 79% of cases)
- Hypoplasia of penis
Show the remaining 4
- Intellectual disabilityHPOHP:0001249
- Occasional (5% to 29% of cases)
- Primary amenorrheaHPOHP:0000786
- Occasional (5% to 29% of cases)
- SeizureHPOHP:0001250
- Occasional (5% to 29% of cases)
- Septo-optic dysplasiaHPOHP:0100842
- Occasional (5% to 29% of cases)
Genes
5 genes
Germline variants in the gene encoding each protein, as classified by GenCC submitters, each in their own words. Limited, disputed and refuted submissions are listed too.
- CDONHGNC:17104
- Supportive · Orphanet · Autosomal dominant · 2021
- GPR161HGNC:23694
- Supportive · Orphanet · Autosomal dominant · 2021
- Limited · PanelApp Australia · Autosomal recessive · 2025
- HESX1HGNC:4877
- Supportive · Orphanet · Autosomal dominant · 2021
- LHX4HGNC:21734
- Supportive · Orphanet · Autosomal dominant · 2021
- ROBO1HGNC:10249
- Supportive · Orphanet · Autosomal dominant · 2021
Where it sits
Other names
3 names
Resolves to: pituitary stalk interruption syndrome
- Also called
- ectopic neurohypophysishypoplastic anterior pituitary, missing stalk, and ectopic posterior pituitaryPSIS