Mathur R, Kabra M
Genetics Unit, Department of Pediatrics, All India Institute of Medical Sciences, New Delhi.
Indian J Pediatr. 2000 Nov;67(11):813-8. doi: 10.1007/BF02726225.
Steroid 21-hydroxylase deficiency congenital adrenal hyperplasia is the most common cause of genital ambiguity in females at birth. Inhibited formation of cortisol causes increase in the release of ACTH in turn leading to overproduction of adrenal androgens. This predisposes the affected female fetus to prenatal development of genital ambiguity. A large number of patients also have aldosterone insufficiency which manifests after birth in form of inability to conserve sodium and to excrete potassium which can lead to adrenal shock and neonatal death, if left untreated. Prenatal diagnosis is possible using several methods like steroid assay of amniotic fluid and, HLA typing. Recently with advancement more accurate direct molecular genetic techniques have been utilized on chorionic villus samples in first trimester of pregnancy. Prenatal treatment is also possible and pregnancies can be managed by administering dexamethasone to the mother as soon as pregnancy is diagnosed. This suppresses fetal androgen production in genetic females preventing virilization and leading to normal development. Prenatal diagnosis and treatment are highly desirable in families with a positive family history towards birth of a child without features of the disease.
类固醇21-羟化酶缺乏症先天性肾上腺皮质增生是女性出生时生殖器模糊的最常见原因。皮质醇生成受抑制导致促肾上腺皮质激素（ACTH）释放增加，进而导致肾上腺雄激素过度产生。这使受影响的女性胎儿在产前易发生生殖器模糊。大量患者还存在醛固酮不足，出生后表现为不能保钠排钾，如果不治疗，可导致肾上腺休克和新生儿死亡。产前诊断可采用多种方法，如羊水类固醇测定和HLA分型。最近，随着技术进步，在妊娠早期的绒毛膜绒毛样本上采用了更准确的直接分子遗传学技术。产前治疗也是可行的，一旦确诊妊娠，可通过给母亲服用地塞米松来管理妊娠。这可抑制遗传女性胎儿的雄激素产生，防止男性化并导致正常发育。对于有该病家族史且出生的孩子无该病特征的家庭，产前诊断和治疗非常必要。
