Is It Beneficial to Patients to Include Congenital Adrenal Hyperplasia (CAH) Among the Disorders of Sex Development (DSD)?

[摘要] Congenital adrenal hyperplasia (CAH) is the most common cause of ambiguous genitalia in genetic females. It results from enzyme deficiencies involved in the synthesis of corticosteroids which cause the accumulation of steroid precursors with androgenic effect. When this defect is present in 46 XX individuals, in addition to the pathological effects resulting from the deficiency in gluco- and mineralocorticoids, fetal virilization occurs. Prompt diagnosis and treatment after birth can be lifesaving. Since the condition is hereditary, prenatal diagnosis and treatment is possible and results in decrease virilization (1).

[学科分类] 儿科学

[关键词] congenital adrenal hyperplasia (CAH);disorder of sex development (DSD);feminizing genitoplasty;urogenital sinus mobilization;gender identidy