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pituitary stalk interruption syndrome (PSIS) - Clinical Profile, Genes & Research | Kisho | Kisho

Rare Disease

pituitary stalk interruption syndrome

MONDO:0019828

Also known as:PSISectopic neurohypophysishypoplastic anterior pituitary, missing stalk, and ectopic posterior pituitary

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Overview

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.

Clinical Trials1 registered · 1 recruiting

Clinical Presentation

Built from Human Phenotype Ontology (HPO) phenotype annotations and GeneReviews clinical descriptions. Features represent findings documented across known cases — not an exhaustive list of possible symptoms.

Features include always present findings: Ectopic posterior pituitary; and very common findings: Abnormality of the hypothalamus-pituitary axis, Failure to thrive, and Short stature. 16 total HPO annotations.

Organ System	Phenotype Count	Example Features
Hormones	7	Ectopic posterior pituitary, Abnormality of the hypothalamus-pituitary axis, Hypothyroidism

Diagnosis

Biomarker and diagnostic research for pituitary stalk interruption syndrome has been reported in the published literature.

Prognosis

Phenotype severity distribution: 1 always present feature, 3 very common features, 4 common features.

Estimated prevalence: Unknown (Unknown prevalence).

Research Landscape

Sourced from ClinicalTrials.gov and PubMed. Publication types are classified using NLM-curated article metadata; research type breakdowns reflect the nature of published work for this disease.

1 clinical trial registered, 1 recruiting. Interventions under study include drug therapy. Pipeline includes 1 PHASE3. Research is primarily industry-sponsored.

44 publications have been identified in PubMed for pituitary stalk interruption syndrome. Research spans Case Report / Case Series (57%), Epidemiology / Natural History (20%), and Review / Meta-Analysis (16%).

Research Type	Count	% of Total
Patient case studies	25	57%

Data assembled from 5 of 12 sources · Last updated Sep 20, 2026, 11:12 AM UTC

MONDOHPOClinicalTrials.govFDAPubMedHGNCClinVarClinGenGeneReviewsOrphanetOMIMRUSP

Medical References

External Resources

Orphanet

European rare disease database

Orphanet:95496

GARD

Genetic and Rare Diseases Info Center

GARD:13209

Questions for Your Care Team

→Are any of the 1 active clinical trial a good fit for my situation?
→Are there specialists or centers of excellence for this condition in my area?
→Is there a patient registry I should consider joining?

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pituitary stalk interruption syndrome

Overview

Clinical Presentation

Diagnosis

Prognosis

Research Landscape

Medical References

External Resources

Orphanet

GARD

Questions for Your Care Team

Questions for Your Care Team

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Recent Publications

pituitary stalk interruption syndrome

Overview

Clinical Presentation

Diagnosis

Prognosis

Research Landscape

Medical References

External Resources

Orphanet

GARD

Related Diseases

Questions for Your Care Team

Questions for Your Care Team

Explore clinical features

Recent Publications