生殖医学杂志

目的 通过年度内病例的横断面调查，了解本中心闭经病例的病因构成及诊疗现状。方法 回顾性分析2021年1—12月于北京协和医院妇科内分泌门诊初诊为闭经、年龄在14～40岁间的784例患者临床资料。结果 (1)闭经患者中，原发性闭经和继发性闭经分别占30.4%(238/784)和69.6%(546/784)。(2)在原发性闭经病例中，低促性腺激素(FSH<5 U/L)、正常促性腺激素(5 U/L≤FSH≤10 U/L)和高促性腺激素(FSH≥40 U/L)性闭经的病例分别占42.0%(100/238)、26.9%(48/238)和31.1%(74/238),其中高促性腺激素性闭经病例中83.8%(62/74)有染色体检查等证据证实为性发育异常(DSD);在继发性闭经病例中，卵巢功能下降乃至卵巢早衰(POF)的病例最多，占39.9%(218/546),与之前类似文献相比，占比明显升高，而其中卵巢储备功能减退(DOR)和早发性卵巢功能不全(POI)的占比均仅为6.4%(14/218)。(3)中枢性闭经在原发性闭经病例中以低促性腺激素性闭经为主(占86.7%),而在继发性闭经病例中以正常促性腺激素性闭经为主(占55.1%),两组病例中为区分下丘脑和垂体功能状态行GnRH刺激试验的病例分别只占12.8%和9.0%。结论 原发性闭经与继发性闭经的病因构成有很大区别，原发性闭经的高促性腺激素性闭经病例以DSD为主，建议落实染色体检查以明确诊断；而继发性闭经中高促性腺激素性闭经病例以卵巢功能下降为主，处于DOI或POI早期阶段的病例较少，治疗预后并不乐观。针对中枢性闭经的功能刺激试验十分欠缺，对于原发性闭经病例的精准诊断和预后评估尤其不利。

Objective:To understand the etiology, diagnosis and treatment status of amenorrhea cases in our center through cross-sectional survey within one year.Methods:The clinical data of 784 patients with amenorrhea, aged between 14 and 40 years old, who were initially diagnosed in the gynecological endocrine clinic of Peking Union Medical College Hospital from January 2021 to December 2021 were analyzed retrospectively.Results:(1) Among amenorrhea patients, primary amenorrhea and secondary amenorrhea accounted for 30.4%(238/784) and 69.6%(546/784) respectively.(2) Among the primary amenorrhea patients, the patients with low FSH(FSH<5 U/L),normal FSH(5 U/L≤FSH≤10 U/L) and high FSH accounted for 42.0%(100/238),26.9%(48/238) and 31.1%(74/238),respectively. Among the patients with high FSH level, 89.2% were confirmed as disorders of sex development(DSD) by chromosome examination. Among the secondary amenorrhea cases, the number of patients with decreased ovarian function including premature ovarian failure(POF) is the most, accounting for 39.9%,which is significantly higher compared with similar historical literature. The proportion of DOR and POI is only 6.4% respectively.(3) In primary amenorrhea patients, low FSH patients accounted for 86.7%;while in secondary amenorrhea patients, normal FSH patients accounted for 55.1%. Only 12.8% and 9.0% in the two groups were tested for GnRH stimulation to distinguish hypothalamic and pituitary functional states.Conclusions:The etiology of primary amenorrhea is very different from that of secondary amenorrhea. Primary amenorrhea with high FSH is dominated by DSD. Chromosome examination should be carried out to make a definite diagnosis. Secondary amenorrhea with high FSH is dominated by decreased ovarian function. There are few patients at the early stage of DOI or POI,and the treatment prognosis is not optimistic. The functional stimulation test for central amenorrhea is very deficient, especially for the diagnosis and prognosis evaluation of primary amenorrhea patients.