关键词: Prader-Willi综合征, 性腺功能减退症, 性激素替代治疗

Abstract: Objective To analyze the sex 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 on sex hormones for their parents, may contribute to low prevalence of sex hormone therapy in this population.

Key words: Prader-Willi syndrome, hypogonadism, hormone replacement therapy