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Start free with EleplanCombined pituitary hormone deficiencies, genetic forms
ORPHA:95494Disease
Also called Familial congenital hypopituitarism · Multiple pituitary hormone deficiencies, genetic forms
What it is
Congenital hypopituitarism is characterized by multiple pituitary hormone deficiency, including somatotroph, thyrotroph, lactotroph, corticotroph or gonadotroph deficiencies. Congenital hypopituitarism is rare compared with the high incidence of hypopituitarism induced by pituitary adenomas, transsphenoidal surgery or radiotherapy.
Key facts
- Age of onset
- Infancy, Neonatal
- Inheritance
- Autosomal dominant, Autosomal recessive, X-linked recessive
- Classified as
- Disease
Signs and symptoms
Common30–79%
18- Abnormality of secondary sexual hair
- Abnormal prolactin level
- Amenorrhea
- Anterior pituitary agenesis
- Anterior pituitary hypoplasia
- Aplasia/Hypoplasia of the breasts
- Decreased circulating ACTH level
- Decreased response to growth hormone stimulation test
- Decreased testicular size
- Depressed nasal ridge
- Fatigue
- Growth delay
- Hypoglycemia
- Hypogonadotropic hypogonadism
- Hypotension
- Infertility
- Osteopenia
- Pituitary hypothyroidism
Sometimes5–29%
6These ranges are how often a sign appears across everyone diagnosed, not a prediction for one person — most people have some of these and not others. Orphanet also records findings that are specifically absent in this disease; those are in the data but not listed here.
Genes
ICD-10 codes
ICD-10 has no distinct code for most rare diseases, so many are filed under the nearest available one. A shared code identifies the group, not this disease — the ORPHAcode above is what identifies it.
Related health topics
Reached through the ICD-10 categories this disease is filed under, so these describe the broader group rather than this disease specifically.
Benefit programs to look at
Programs whose eligibility touches the same ICD-10 categories. Eligibility is decided by the administering agency, never by this page.
Cross-references
Orphadata Science: Free access data from Orphanet. © INSERM 1999. Data version 2026-06-23. Available under CC BY 4.0. This is a reference, not medical advice.
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