目的 总结男性假两性畸形的临床特点.方法 对1例男性假两性畸形患者的临床资料进行回顾性分析,并对患者及其母亲、姐姐进行相关基因分析.结果 患者为女性外观,青春期性腺发育不良,同时伴有高血压、低血钾.B超证实存在双侧隐睾;染色体为(46,XY);血、尿皮质醇水平明显降低,促肾上腺皮质激素(ACTH)水平升高;性激素水平明显降低,促性激素水平升高;血浆醛固酮水平轻度升高,肾素活性受到抑制;基因分析见CYP17第6号外显子329密码子发生纯合突变(TAC→AA),明确诊断为17α-羟化酶缺陷症(17α-OHD).小剂量地塞米松治疗使血压、血钾恢复正常后,行双侧隐睾切除术.术后维持地塞米松治疗,血压、血钾保持正常;给予雌激素替代治疗维持女性特征.结论 对于男性假两性畸形同时伴有高血压、低血钾的患者,应警惕17α-OHD的可能.除外科手术切除隐睾外,需内科随诊,长期给予糖皮质激素治疗,可良好控制血压并纠正低血钾.%Objective To summarize the clinical characteristics of mala pseudohermaphroditism. Methods Clinical data of one patient suffering from this disease was retrospectively analyzed with genetic analysis carried out in the patient and the mother and sister of the patient. Results The patient showed female external appearance and bilateral undescended testis lacked spontaneous puberty and had typical clinical presentation of hypertension and hypokalemia [ karyotype, ( 46, XY ) ] . The circulating concentrations of cortisol and gonadal steroids were reduced while ACTH and gonadotropin levels were elevated. Sequence a-nalysis revealed homozygous mutation of CYP17 Y329K ( TAC→AA ) . The diagnosis of 17 alpha - hydroxylase deficiency was proved in this case. Excision of bilateral undescended testis was performed after the successful control of hypertension and hypokalemia by small dose of dexamethasone ( 0. 75 mg per day ) . With sex hormone replacement, the patient obtained adult female appearance and no reproductive function. Conclusion It is necessary to enhance the recognition of 17 alpha - hydroxylase deficiency especially facing patients with both mala pseudohermaphroditism combined with hypertension and hypokalemia. It is important for this kind of patients to receive long - term hormone replacement besides excision of bilateral undescended testis.
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