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adrenal hyperplasia type 5
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)
Related
cytochrome P450 17A1; cytochrome P450 C17; steroid-17-alpha hydroxylase; steroid 17-alpha-hydroxylase/17,20 lyase; CYPXVII; P450-C17; P450c17; steroid 17-alpha-monooxygenase (CYP17A1, CYP17, S17AH)
General
congenital adrenal hyperplasia (21-hydroxlase deficiency)
Database Correlations
OMIM 202110
References
- UniProt :accession P05093
- OMIM :accession 202110