家族性17α羟化酶缺陷型肾上腺性征异常

Familial disorders of steroid 17α-hydroxylase deficiency

目的 提高对家族性先天性肾上腺性征异常的认识。 方法 报告一先天性肾上腺皮质增生 (CAH)家系共 2例患者 ,结合文献讨论病因、临床表现、遗传特性和诊治方法。 结果 2例确诊为 17α羟化酶缺陷型CAH ,其中 1例为男性女性化 ,1例为女性性幼稚。均采用糖皮质激素和女性激素替代治疗。 1个月后随访患者低血钾已纠正 ,血压控制在 15 0 / 90mmHg以下。 结论 家族性 17α羟化酶缺陷型CAH极其罕见 ,系常染色体隐性遗传。性激素、17 OHCS测定、地塞米松抑制试验和染色体分析等有助于诊断。

Objective To study and to improve the understanding of the etiology, diagnosis and treatment of familial congenital adrenal hyperplasia(CAH) due to 17α hydroxylase deficiency. Methods 2 rare cases of 17α hydroxylase deficiency in a family were studied with review of the literature. Results 2 cases were definitely diagnosed,one being male pseudohermaphroditism and the other female hypogonadism.Treatment consisted of replacement doses of glucocorticoid hormones and supplemented by estrogen therapy.The serum potassium became normal and the blood pressure was kept below 150/90 mm Hg. Conclusions 17α hydroxylase dificiency is a kind of hypertensive forms of CAH and is inherited as an autosomal recessive trait,its prevalence being rare.It is associated with hypogonadism or pseudohermaphroditism, hypertension or hypokalemia and with absent/decreased 17 OHCS and 17 KS.Hypoaldosteronism and positive dexamathasone inhibition test are the outstanding features.