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Start free with EleplanNon-acquired combined pituitary hormone deficiency
ORPHA:467Category
Also called Congenital combined pituitary hormone deficiency · Congenital hypopituitarism
What it is
A group of rare disorders characterized by multiple pituitary hormone deficiencies, including somatotropin, thyrotropin, lactotropin, corticotropin and gonadotropin deficiencies, due to mutations of pituitary transcription factors involved in pituitary ontogenesis. Clinical presentation varies depending on the type and severity of the deficiencies as well as the age at diagnosis. If left untreated, the main symptoms include short stature, cognitive impairment and delayed puberty.
Key facts
- Prevalence
- 1-5 / 10 000 (Europe)
- Age of onset
- All ages
- Classified as
- Category
Prevalence figures describe populations, not individuals, and are often estimates from a single study. Where the figure is an incidence or a birth prevalence, it says so.
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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