Pan P, Zheng L Y, Fang L L, Chen X L, Huang J, Zhang Q X, Yang D Z, Xie M Q, Li Y
Department of Obstetrics and Gynecology, Sun Yat-sen Memorial Hospital of Sun Yat-sen University, Guangzhou 510120, China.
Zhonghua Fu Chan Ke Za Zhi. 2021 Feb 25;56(2):108-113. doi: 10.3760/cma.j.cn112141-20200526-00447.
To investigate the clinical features of infertile women with non-classic 21-hydroxylase deficiency (21-OHD). The study enrolled 21 infertile women with non-classic 21-OHD in Sun Yat-sen Memorial Hospital of Sun Yat-sen University from January 2009 to December 2018. The clinical presentation, endocrine hormone, glucolipid metabolism and treatment outcome were retrospectively analyzed. The diagnosis of non-classic 21-OHD was comprehensively based on clinical and hormonal characteristics. Among 21 cases, the age was (29.9±2.9) years, the mean age at menarche was (13.6±2.0) years, body mass index was (22.1±2.9) kg/m, and 38% (8/21) had oligomenorrhea. Hirsutism was diagnosed in 3 cases (14%, 3/21). Clitoromegaly was seen in 14% (3/21) and polycystic ovarian morphology was found in 33% (7/21) of the patients. The mean serum level of basal progesterone was (11.3±21.0) nmol/L, with 48% (10/21) having high basal progesterone level; after therapy by glucocorticoid, the level of progesterone was (1.9±2.0) nmol/L. Serum 17-hydroxyprogesterone concentration was (66.4±123.6) nmol/L; after therapy by glucocorticoid, it was (2.4±1.8) nmol/L. In the study increased testosterone, androstenedione and dehydroepiandrosterone sulfate were present in 62% (13/21), 52% (11/21) and 43% (9/21), respectively; and 52% (11/21) of patients manifested androgen excess and basal progesterone elevation; androgen levels decreased after therapy by glucocorticoid. The pregnancy rate was 76% (16/21). Out of 19 pregnancies, 6/19 ended in spontaneous miscarriages. Infertile women with non-classic 21-OHD are characterized by hyperandrogenism and basal progesterone elevation, whereas gonad axis disorder is not apparent. After no response to conventional therapy, adult infertile women with non-classic 21-OHD could achieve a desirable pregnancy outcome with proper treatment of glucocorticoid.
探讨非经典型21-羟化酶缺乏症（21-OHD）不孕女性的临床特征。本研究纳入了2009年1月至2018年12月在中山大学孙逸仙纪念医院就诊的21例非经典型21-OHD不孕女性。对其临床表现、内分泌激素、糖脂代谢及治疗结局进行回顾性分析。非经典型21-OHD的诊断综合依据临床和激素特征。21例患者中，年龄为（29.9±2.9）岁，初潮平均年龄为（13.6±2.0）岁，体重指数为（22.1±2.9）kg/m²，38%（8/21）有月经过少。3例（14%，3/21）诊断为多毛症。14%（3/21）可见阴蒂肥大，33%（7/21）的患者有多囊卵巢形态。基础孕酮平均血清水平为（11.3±21.0）nmol/L，48%（10/21）基础孕酮水平升高；糖皮质激素治疗后，孕酮水平为（1.9±2.0）nmol/L。血清17-羟孕酮浓度为（66.4±123.6）nmol/L；糖皮质激素治疗后，为（2.4±1.8）nmol/L。研究中，62%（13/21）、52%（11/21）和43%（9/21）的患者分别出现睾酮、雄烯二酮和硫酸脱氢表雄酮升高；52%（11/21）的患者表现为雄激素过多和基础孕酮升高；糖皮质激素治疗后雄激素水平下降。妊娠率为76%（16/21）。19次妊娠中，6/19以自然流产告终。非经典型21-OHD不孕女性的特征为高雄激素血症和基础孕酮升高，而性腺轴紊乱不明显。对常规治疗无反应的成年非经典型21-OHD不孕女性，经适当的糖皮质激素治疗可获得理想的妊娠结局。
