Le forme non classiche di iperplasia surrenalica congenita nella donna: diagnosi e terapia
摘要
Congenital adrenal hyperplasia is a rare congenital syndrome caused by various enzymatic defects of adrenal steroidogenesis, among which 21-hydroxylase is the most frequent. The non-classical forms are characterised by a partial deficiency of cortisol and an increase in ACTH levels that is, in turn, responsible for an increase in the synthesis of androgens. While male patients are generally asymptomatic, signs and symptoms of hyperandrogenism appear in women. In this review we will describe diagnosis and therapy of the main non-classical form in adult women.