Abstract
AimNonclassical congenital adrenal hyperplasia is one of the most common autosomal recessive disorders and, in the majority of cases, is due to 21‐hydroxylase (21‐OH) enzyme deficiency. With this article we intend to review the relevant aspects of this disease in daily clinical practice, particularly in the areas of pediatrics, endocrinology and obstetrics. MethodsA bibliographic review was performed through the electronic database MEDLINE, for articles published between 1990 and 2013. The keywords used were “nonclassical adrenal hyperplasia” and “21‐hydroxylase deficiency.” ConclusionsThe clinical presentation of nonclassical adrenal hyperplasia is variable: it can be asymptomatic or cause symptoms related to androgen excess as premature pubarche, hirsutism, oligomenorrhea, acne or infertility. The diagnosis is confirmed by a tetracosactide stimulation test. Treatment is reserved for symptomatic individuals, must be individualized and its main goals are to avoid premature pubarch with premature epiphyseal fusion, to regulate the menstrual cycles, to promote fertility and to reduce hirsutism and acne.
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