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adrenal hyperplasia type 2
Epidemiology:
- common recessive disease
Pathology:
- defective synthesis of cortisol
- androgen excess
Genetics:
- associated with defects in HSD3B2
Clinical manifestations:
- virilization is much less marked or does not occur
- frequently lethal in early life
General
congenital adrenal hyperplasia (21-hydroxlase deficiency)
References
UniProt :accession P26439