男性Kallmann综合征的临床诊断与治疗分析

Clinical diagnosis and treatment of male Kallmann syndrome

目的：探讨男性Kallmann综合征的诊断及治疗方法。方法：对12例Kallmann综合征患者的临床资料做回顾性分析。以男性不育就诊者3例，其余9例因第二性征发育不全及外生殖器发育异常就诊。12例均给予人绒毛膜促性腺激素（hCG）、尿促性腺激素（hMG）及十一酸睾酮等治疗6个月～3年。比较12例患者治疗前后第二性征的发育及血清生殖激素变化情况，分析治疗情况。结果：治疗9个月（3个疗程）后12例患者阴茎长度、睾丸体积、生殖激素水平较治疗前均有明显改善，有统计学意义（P〈0．01），第二性征得到不同程度的发育。目前3例已婚者已恢复正常性生活，其中1例患者妻子已正常妊娠。结论：Kallmann综合征的临床特征为促性腺激素缺乏、性腺功能低下、嗅觉缺失或减退，hCG、hMG及雄激素替代治疗是有效的治疗方法。对嗅觉功能障碍暂无有效治疗方法。早期诊断并给予激素替代治疗可最大限度地缓解临床症状并获得生育能力。

Objective： To investigate the diagnosis and treatment of male Kallmann syndrome. Methods： We retrospectively analyzed the clinical data of 12 cases of male Kallmann syndrome, 3 treated for male sterility and the other 9 for secondary sex charac- teristics dysplasia and external genitalia developmental anomalies, all by combined replacement therapy with human chorionic gonado- tropin （hCG）, human menopause gonadotropin （hMG） and testosterone undecanoate for 6 months to 3 years. We compared the sec- ondary sexual development and serum sex hormone levels of the patients before and after treatment. Results ： After 9 months of treat- ment, all the 12 patients showed significant improvement in the penile length, testicular volume and sex hormone levels （P 〈 0.01 ）, with different degrees of promotion of the secondary sexual development. Three married cases could have normal sexual intercourse, and one of them achieved normal pregnancy. Conclusion ： The clinical characteristics of Kallmann syndrome include lack of gonadotro- pins, lower gonad function and loss or reduction of olfactory sensation. Replacement therapy with hCG, hMG and androgens is an effec- tive treatment method. However, no effective therapy is now available for olfactory dysfunction. Early diagnosis and hormone replace- ment therapy can best alleviate its clinical symptoms and eventually achieve fertility.