Peeyananjarassri Krantarat, Klangsin Satit, Wattanakumtornkul Saranya, Dhanaworavibul Kriengsak, Choksuchat Chainarong, Getpook Chatpavit, Charalsawadi Chariyawan, Maisrikhaww Worathai
Department of Obstetrics and Gynecology, Faculty of Medicine, Prince of Songkla University, Songkhla, 90110 Thailand.
Department of Pathology, Faculty of Medicine, Prince of Songkla University, Songkhla, Thailand.
J Obstet Gynaecol India. 2025 Apr;75(2):122-128. doi: 10.1007/s13224-025-02112-w. Epub 2025 Mar 22.
BACKGROUND/PURPOSE OF THE STUDY: To identify the causes and clinical characteristics of women with primary amenorrhoea and hypothalamic or pituitary gland disorders.
This retrospective study was conducted at a quaternary hospital in southern Thailand. The medical records of women diagnosed with primary amenorrhea and hypothalamic or pituitary gland disorders (hypogonadotropic hypogonadism [HH]) were reviewed. HH was defined as an oestradiol level of < 20 pg/mL, decreased (< 5 mIU/mL) or normal serum follicle-stimulating hormone (FSH) levels, and no organic disease of the uterus or ovaries.
Fifty-five women with HH were included. The median (interquartile range [IQR]) age at presentation was 18 years (range, 17-20 years). Most patients presented with primary amenorrhoea (50/55), followed by primary infertility (3/55). All women had low levels of oestradiol (5 pg/mL [5.0-12.1]), FSH (0.8 mIU/mL [0.3-3.7]), and luteinising hormone (0.5 mIU/mL [0.1-2.3]). The most common cause was hypothalamic dysfunction (80%); including congenital hypogonadotropic hypogonadism (CHH) (43.6%), constitutional delay of growth and puberty (CDGP) (14.5%), and functional hypogonadotropic hypogonadism (FHH) (10.9%). Regarding hypothalamic dysfunction, patients with CHH were significantly older than those with CDGP (20 years [17.0-26.5] vs. 16.5 years [15.8-17.2]; P = 0.014) and had significantly lower FSH levels compared to those with FHH (0.6 mIU/mL [0.3-1.0] vs. 4.5 mIU/mL [2.8-5.7]; P = 0.026).
Hypothalamic dysfunction, particularly CHH, is the most common cause of primary amenorrhoea and HH.
研究背景/目的：确定原发性闭经以及下丘脑或垂体疾病女性患者的病因及临床特征。
本回顾性研究在泰国南部一家四级医院开展。对诊断为原发性闭经以及下丘脑或垂体疾病（低促性腺激素性性腺功能减退[HH]）的女性患者的病历进行回顾。HH的定义为雌二醇水平<20 pg/mL、血清促卵泡生成素（FSH）水平降低（<5 mIU/mL）或正常，且子宫或卵巢无器质性疾病。
纳入55例HH女性患者。就诊时的中位年龄（四分位间距[IQR]）为18岁（范围17 - 20岁）。多数患者表现为原发性闭经（50/55），其次是原发性不孕（3/55）。所有女性的雌二醇（5 pg/mL [5.0 - 12.1]）、FSH（0.8 mIU/mL [0.3 - 3.7]）和黄体生成素（0.5 mIU/mL [0.1 - 2.3]）水平均较低。最常见的病因是下丘脑功能障碍（80%）；包括先天性低促性腺激素性性腺功能减退（CHH）（43.6%）、体质性生长和青春期延迟（CDGP）（14.5%）以及功能性低促性腺激素性性腺功能减退（FHH）（10.9%）。关于下丘脑功能障碍，CHH患者的年龄显著大于CDGP患者（20岁[17.0 - 26.5] vs. 16.5岁[15.8 - 17.2]；P = 0.014），与FHH患者相比，其FSH水平显著更低（0.6 mIU/mL [0.3 - 1.0] vs. 4.5 mIU/mL [2.8 - 5.7]；P = 0.026）。
下丘脑功能障碍，尤其是CHH，是原发性闭经和HH最常见的病因。
