Division of Endocrinology, Friedman Transgender Health and Wellness Program, Department of Medicine, Lenox Hill Hospital, Northwell Health, New York, NY.
Donald and Barbara Zucker School of Medicine at Hofstra University, Hempstead, NY.
Yale J Biol Med. 2020 Sep 30;93(4):529-537. eCollection 2020 Sep.
Polycystic ovary syndrome (PCOS) is a common endocrinopathy affecting 46XX individuals of reproductive age. Cardinal features of PCOS include hyperandrogenism, irregular periods, and insulin resistance. Pathogenesis is unclear but likely involves hypothalamic, pituitary, or ovarian abnormalities leading to increased androgen production. In addition, alternative insulin signaling pathways are activated to preserve ovarian sensitivity to insulin while other "classical" tissues ( liver, adipose, muscle) are insulin resistant. Treatment targets specific symptoms and the most common regimens include weight loss, metformin, oral contraceptives, anti-androgen compounds, and fertility treatments. Observations of individuals with gene mutations affecting androgen metabolism suggest that androgens may influence the development of gender identity. We reviewed studies exploring the relationship between gender identity and PCOS to further elucidate this relationship. Rates of PCOS in hormone-naïve transmasculine (TM) individuals appear to be higher than in the general population as cited by small, early studies using convenience samples and inconsistent criteria for PCOS. A more recent, larger study using established guidelines for PCOS did not show this to be true. Further, other studies show that although PCOS patients are less likely to identify with a traditional feminine gender scheme compared to age-matched peers, the prevalence of gender incongruence in PCOS patients is not higher than in the general population. Larger systematic studies with control groups using modern diagnostic criteria for both PCOS and gender incongruence are needed to clarify the relationship between PCOS and gender identity.
多囊卵巢综合征（PCOS）是一种常见的内分泌疾病，影响生殖年龄的 46XX 个体。PCOS 的主要特征包括高雄激素血症、月经不规律和胰岛素抵抗。发病机制尚不清楚，但可能涉及下丘脑、垂体或卵巢异常，导致雄激素产生增加。此外，还激活了其他胰岛素信号通路，以保持卵巢对胰岛素的敏感性，而其他“经典”组织（肝脏、脂肪、肌肉）则对胰岛素产生抵抗。治疗针对特定症状，最常见的治疗方案包括减肥、二甲双胍、口服避孕药、抗雄激素药物和生育治疗。对影响雄激素代谢的基因突变个体的观察表明，雄激素可能影响性别认同的发展。我们回顾了探索性别认同与 PCOS 之间关系的研究，以进一步阐明这种关系。早期的小样本研究使用便利样本和不一致的 PCOS 标准，表明激素初治跨性别男性（TM）个体的 PCOS 发病率似乎高于一般人群。一项使用 PCOS 既定指南的最近更大规模的研究表明并非如此。此外，其他研究表明，与年龄匹配的同龄人相比，PCOS 患者不太可能认同传统的女性性别模式，但 PCOS 患者的性别不一致患病率并不高于一般人群。需要更大规模的系统研究，使用现代 PCOS 和性别不一致的诊断标准，为 PCOS 和性别认同之间的关系提供明确的证据。
