adrenal hyperplasia type 5
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Epidemiology
- common
Pathology
- defective synthesis of cortisol
- androgen excess
Genetics
- autosomal recessive disease
- associated with defects in CYP17A1
Clinical manifestations
- ambiguous genitalia in affected females
- rapid somatic growth during childhood in both sexes
- premature closure of the epiphyses
- short adult stature
- four clinical types
- salt wasting (most severe type)
- simple virilizing with normal aldosterone biosynthesis
- non-classic form or late-onset
- cryptic (asymptomatic)