Congenital adrenal hyperplasia
Etiology, pathogenesis
- defect of the cortisol synthesis in the adrenals
- the precursor level increases before enzyme block; in classic form
(21-hydroxylase defect) the precursors are androgens
Clinical signs
- AR heredity
- incidence 1 : 10 000
- girls: 2 ovaries, female internal genitalia, the external genitalia is virilized
- newborn boys with this disorder have normal genitalia
- newborns are in danger of metabolic crisis during the first days of life
because of lack of the adrenal cortex hormones
