Prader-Willi综合征患者的性激素治疗现状

Sex hormone replacement therapy for patients with Prader-Willi syndrome

目的了解和分析Prader-Willi综合征(PWS)患者应用性激素治疗的现状,为患者将来应用性激素提供指导。方法通过问卷调查,对13岁以上患者的青春期发育、异常行为、骨骼质量、性激素治疗情况以及父母对应用性激素的态度进行分析。结果PWS患者41例(男21例,女20例),中位年龄15(13~24)岁。男性全部存在隐睾症,其中6例(28.6%)患者无青春发育。没有患者正在补充雄激素治疗。女性有13例(65.0%)患者存在原发闭经。只有2例患者曾经或正在补充女性激素。顾虑到药物应用的种种不便,有16例(39%)家长不愿应用性激素。结论虽然多数PWS患者存在性腺功能减退症,但很少有患者接受性激素治疗。这可能和医生推荐不足或家长对药物认识不足有关。

Objective To analyze thesex hormonal therapy present status in patients with Prader-Willi syndrome(PWS)and to provide guidance for the future sex hormone application.Methods Pubertal development,abnormal behavior,bone mineral density,sex hormone treatment and parents attitude to sex hormone application were analyzed by a self-designed questionnaire.Results A total of 41 PWS patients were included(21 males and 20 females)and the median age was 15 years old(13-24 years).For boys,all had cryptorchidism,of which 6 patients(28.6%)had no pubertal development.None of the patients were receiving additional androgen therapy.For girls,13(65%)had primary amenorrhea.Only 2 patients had received or was continuing estrogen replacement therapy.Considering the inconveniences of drug application and other reasons,16 cases(39%)of parents were unwilling to undergo sex hormone therapy.Conclusions Almost all patients with PWS are hypogonadism.Lack of medical recommendations and limited knowledge onsex hormones for their parents,may contribute to low prevalence ofsex hormone therapy in this population.