combined pituitary hormone deficiencies, genetic form
Findings
No curated finding names combined pituitary hormone deficiencies, genetic form yet. Everything below is reference data from Mondo, HPO and GenCC, not evidence about what affects it.
Definition
Congenital hypopituitarism is characterized by multiple pituitary hormone deficiency, including somatotroph, thyrotroph, lactotroph, corticotroph or gonadotroph deficiencies, due to mutations of pituitary transcription factors involved in pituitary ontogenesis. Congenital hypopituitarism is rare compared with the high incidence of hypopituitarism induced by pituitary adenomas, transsphenoidal surgery or radiotherapy.
Definition from the Mondo Disease Ontology (MONDO:0013099), read 2026-09-29. CC BY 4.0.
Features
39 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.
- HypopituitarismHPOHP:0040075
- Obligate (100% of cases)
- Abnormal prolactin levelHPOHP:0040086
- Frequent (30% to 79% of cases)
- Abnormality of secondary sexual hairHPOHP:0009888
- Frequent (30% to 79% of cases)
- AmenorrheaHPOHP:0000141
- Frequent (30% to 79% of cases)
- Anterior pituitary agenesisHPOHP:0010626
- Frequent (30% to 79% of cases)
- Anterior pituitary hypoplasiaHPOHP:0010627
- Frequent (30% to 79% of cases)
- Aplasia/Hypoplasia of the breasts
Show the remaining 27
- Growth delayHPOHP:0001510
- Frequent (30% to 79% of cases)
- HypoglycemiaHPOHP:0001943
- Frequent (30% to 79% of cases)
- Hypogonadotropic hypogonadismHPOHP:0000044
- Frequent (30% to 79% of cases)
- HypotensionHPOHP:0002615
- Frequent (30% to 79% of cases)
- InfertilityHPOHP:0000789
- Frequent (30% to 79% of cases)
- OsteopeniaHPOHP:0000938
- Frequent (30% to 79% of cases)
Genes
8 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.
- HESX1HGNC:4877
- Strong · G2P · Autosomal dominant · 2025
- Supportive · Orphanet · Autosomal dominant · 2021
- FOXA2HGNC:5022
- Moderate · ClinGen · Autosomal dominant · 2025
- Supportive · Orphanet · Autosomal dominant · 2021
- GLI2HGNC:4318
- Supportive · Orphanet · Autosomal dominant · 2021
- LHX4HGNC:21734
- Supportive · Orphanet · Autosomal dominant · 2021
- OTX2HGNC:8522
- · Orphanet · Autosomal dominant · 2021
Where it sits
- A kind of
- Narrower terms (9)
- congenital isolated adrenocorticotropic hormone deficiency
- isolated congenital growth hormone deficiency
- non-acquired combined pituitary hormone deficiency with spine abnormalities
- panhypopituitarism
- pituitary hormone deficiency, combined or isolated, 8
- pituitary hormone deficiency, combined, 1
- pituitary hormone deficiency, combined, 6
- septooptic dysplasia
- short stature-pituitary and cerebellar defects-small sella turcica syndrome
Other names
4 names
Resolves to: combined pituitary hormone deficiencies, genetic form
- Also called
- familial congenital hypopituitarismgenetic hypopituitarismmultiple pituitary hormone deficiencies, genetic formspituitary hormone deficiency, combined