| Summary: | Congenital adrenal hyperplasia consists of a heterogenous group of inherited disorders
due to enzymatic defects in the biosynthetic pathway of cortisol and/or aldosterone. This
results in glucocorticoid deficiency, mineralocorticoid deficiency, and androgen excess.
95% of CAH cases are due to 21-hydroxylase deficiency. Clinical forms range from the
severe, classical CAH associated with complete loss of enzyme function, to milder,
non-classical forms (NCAH). Androgen excess affects the pilosebaceous unit, causing
cutaneous manifestations such as acne, androgenetic alopecia and hirsutism. Clinical
differential diagnosis between NCAH and polycystic ovary syndrome may be difficult. In
this review, the evaluation of patients with suspected CAH, the clinical presentation of
CAH forms, with emphasis on the cutaneous manifestations of the disease, and available
treatment options, will be discussed.
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