Vimalesvaran S, Narayanaswamy S, Yang L, Prague J K, Buckley A, Miras A D, Franks S, Meeran K, Dhillo W S
Department of Endocrinology & Metabolism, Imperial College LondonUK.
Department of Diabetes & Endocrinology, Imperial Healthcare NHS Trust, LondonUK.
Endocrinol Diabetes Metab Case Rep. 2017 Mar 27;2017. doi: 10.1530/EDM-16-0117. eCollection 2017.
Primary amenorrhoea is defined as the failure to commence menstruation by the age of 15 years, in the presence of normal secondary sexual development. The potential causes of primary amenorrhoea extend from structural to chromosomal abnormalities. Polycystic ovarian syndrome (PCOS) is a common cause of secondary amenorrhoea but an uncommon cause of primary amenorrhoea. An early and prompt diagnosis of PCOS is important, as up to 30% of these women are predisposed to glucose intolerance and obesity, with the subgroup of women presenting with primary amenorrhoea and PCOS displaying a higher incidence of metabolic dysfunction. We describe a case of an 18-year-old female presenting with primary amenorrhoea of unknown aetiology. Although initial investigations did not demonstrate clinical or biochemical hyperandrogenism or any radiological evidence of polycystic ovaries, a raised luteinising hormone (LH) suggested a diagnosis of PCOS. If PCOS was the correct diagnosis, then one would expect intact hypothalamic GnRH and pituitary gonadotropin release. We used the novel hormone kisspeptin to confirm intact hypothalamic GnRH release and a GnRH stimulation test to confirm intact pituitary gonadotroph function. This case highlights that kisspeptin is a potential unique tool to test GnRH function in patients presenting with reproductive disorders.
Polycystic ovarian syndrome (PCOS) can present with primary amenorrhoea, and therefore, should be considered in the differential diagnosis.PCOS is a heterogeneous condition that may present in lean women with few or absent signs of hyperandrogenism.GnRH stimulation tests are useful in evaluating pituitary function; however, to date, we do not have a viable test of GnRH function. Kisspeptin has the potential to form a novel diagnostic tool for assessing hypothalamic GnRH function by monitoring gonadotropin response as a surrogate marker of GnRH release.Confirmation of intact GnRH function helps consolidate a diagnosis in primary amenorrhoea and gives an indication of future fertility.
原发性闭经的定义为，在第二性征发育正常的情况下，15岁仍未开始月经来潮。原发性闭经的潜在病因范围从结构异常到染色体异常。多囊卵巢综合征（PCOS）是继发性闭经的常见原因，但却是原发性闭经的罕见原因。早期及时诊断PCOS很重要，因为这些女性中高达30%易患糖耐量异常和肥胖症，而表现为原发性闭经和PCOS的女性亚组代谢功能障碍发生率更高。我们描述了一例18岁病因不明的原发性闭经女性病例。尽管最初的检查未显示临床或生化高雄激素血症，也没有多囊卵巢的任何影像学证据，但促黄体生成素（LH）升高提示PCOS诊断。如果PCOS是正确诊断，那么预期下丘脑GnRH和垂体促性腺激素释放功能正常。我们使用新型激素 kisspeptin 来确认下丘脑GnRH释放功能正常，并通过GnRH刺激试验来确认垂体促性腺激素功能正常。该病例突出表明，kisspeptin是检测生殖系统疾病患者GnRH功能的潜在独特工具。
多囊卵巢综合征（PCOS）可表现为原发性闭经，因此在鉴别诊断中应予以考虑。PCOS是一种异质性疾病，可能在几乎没有或没有高雄激素血症体征的瘦女性中出现。GnRH刺激试验有助于评估垂体功能；然而，迄今为止，我们尚无可行的GnRH功能检测方法。Kisspeptin有潜力通过监测促性腺激素反应作为GnRH释放的替代标志物，形成一种评估下丘脑GnRH功能的新型诊断工具。确认GnRH功能正常有助于巩固原发性闭经的诊断，并为未来生育能力提供线索。
