Tang Rui-Yi, Chen Rong, Ma Miao, Lin Shou-Qing, Zhang Yi-Wen, Wang Ya-Ping
Department of Obstetrics and GynecologyPeking Union Medical College Hospital, Peking Union Medical College, Chinese Academy of Medical Science, Beijing, People's Republic of China.
Department of Obstetrics and GynecologyPeking Union Medical College Hospital, Peking Union Medical College, Chinese Academy of Medical Science, Beijing, People's Republic of China
Endocr Connect. 2017 Nov;6(8):800-810. doi: 10.1530/EC-17-0251. Epub 2017 Oct 10.
To evaluate the clinical features of Chinese women with idiopathic hypogonadotropic hypogonadism (IHH).
We retrospectively reviewed the clinical characteristics, laboratory and imaging findings, therapeutic management and fertility outcomes of 138 women with IHH. All patients had been treated and followed up at an academic medical centre during 1990-2016.
Among the 138 patients, 82 patients (59.4%) were diagnosed with normosmic IHH and 56 patients (40.6%) were diagnosed with Kallmann syndrome (KS). The patients with IHH experienced occasional menses (4.3%), spontaneous thelarche (45.7%) or spontaneous pubarche (50.7%). Women with thelarche had a higher percentage of pubarche ( 0.001) and higher gonadotropin concentrations ( 0.01). Olfactory bulb/sulci abnormalities were found during the magnetic resonance imaging (MRI) of all patients with KS. Most patients with IHH had osteopenia and low bone age. Among the 16 women who received gonadotropin-releasing hormone treatment, ovulation induction or assisted reproductive technology, the clinical pregnancy rate was 81.3% and the live birth rate was 68.8%.
The present study revealed that the phenotypic spectrum of women with IHH is broader than typical primary amenorrhoea with no secondary sexual development, including occasional menses, spontaneous thelarche or pubarche. MRI of the olfactory system can facilitate the diagnosis of KS. Pregnancy can be achieved after receiving appropriate treatment.
评估中国特发性低促性腺激素性性腺功能减退（IHH）女性患者的临床特征。
我们回顾性分析了138例IHH女性患者的临床特征、实验室及影像学检查结果、治疗管理及生育结局。所有患者于1990年至2016年期间在一家学术医疗中心接受治疗及随访。
138例患者中，82例（59.4%）被诊断为嗅觉正常的IHH，56例（40.6%）被诊断为卡尔曼综合征（KS）。IHH患者出现偶发月经（4.3%）、自发乳房发育（45.7%）或自发阴毛生长（50.7%）。有乳房发育的女性阴毛生长比例更高（P<0.001），促性腺激素浓度也更高（P<0.01）。所有KS患者的磁共振成像（MRI）均发现嗅球/嗅沟异常。大多数IHH患者存在骨质减少和骨龄偏低。在16例接受促性腺激素释放激素治疗、促排卵或辅助生殖技术的女性中，临床妊娠率为81.3%，活产率为68.8%。
本研究表明，IHH女性患者的表型谱比典型的原发性闭经且无第二性征发育更为广泛，包括偶发月经、自发乳房发育或阴毛生长。嗅觉系统的MRI有助于KS的诊断。接受适当治疗后可实现妊娠。
