月经稀发-多毛-不孕：浅谈非经典型21-羟化酶缺乏症临诊应对

聂智梅; 窦建新; 杜锦; 谷伟军; 吕朝晖; 窦京涛; 母义明

doi:10.12376/j.issn.2097-0501.2023.03.013

月经稀发-多毛-不孕：浅谈非经典型21-羟化酶缺乏症临诊应对

doi: 10.12376/j.issn.2097-0501.2023.03.013

1.
解放军总医院第一医学中心内分泌科，北京 100853
2.
山东省潍坊市人民医院内分泌科，潍坊 261041

详细信息

通信作者:
吕朝晖，E-mail：metabolism301@126.com

中图分类号: R586
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出版历程
- 收稿日期: 2023-05-06
- 录用日期: 2023-06-04
- 网络出版日期: 2023-09-09

Irregular Menstruation-Hirsutism-Infertility: Clinical Management of Non-Classic Congenital Adrenal Hyperplasia

1.
Department of Endocrinology, the First Medical Center of Chinese PLA General Hospital, Beijing 100853, China
2.
Department of Endocrinology, Weifang People′s Hospital in Shandong Province, Weifang 261041, China

More Information

Corresponding author: LYU Zhaohui, E-mail: metabolism301@126.com

摘要

摘要: 患者女性，38岁，16岁时出现月经稀发、多毛，29岁时发现血清睾酮水平升高并诊断为多囊卵巢综合征，给予炔雌醇环丙孕酮片治疗，治疗期间月经恢复正常，血清睾酮水平无明显变化。38岁因婚后5年未孕，进一步检查发现血清17-羟孕酮、硫酸脱氢表雄酮水平升高，通过促肾上腺皮质激素刺激试验和基因分析最终确诊为非经典型21-羟化酶缺乏症。本病例提示患者出现月经稀发、多毛、高雄激素血症并不孕时，应警惕不典型先天性肾上腺皮质增生症。
- 非经典型21-羟化酶缺乏症 /
- 17-羟孕酮 /
- 促肾上腺皮质激素刺激试验
Abstract: A 38-year-old female presented with irregular menstruation and hirsutism that started at age of 16 and diagnosed with polycystic ovary syndrome at age of 29 with elevated testosterone. When treated with ethinestradiol cyproterone tablets, her menstruation returned to normal and androgen levels was not changed. At age of 38 she was referred to the hospital with infertility, a diagnosis of nonclassical 21-hydroxylase deficiency was confirmed using 17-hydroxyprogesterone, dehydroepiandrosterone-sulfate, a cosyntropin-stimulation test and genetic test. This case suggested that nonclassical congenital adrenal hyperplasia should be considered when a patient is presented with oligomenorrhea, hirsutism with hyperandrogenemia and infertility.
- nonclassical 21-hydroxylase deficiency /
- 17-hydroxyprogesterone /
- cosyntropin-stimulation test
注释:

作者贡献：文章撰写与研究设计：聂智梅、窦建新、吕朝晖；数据收集与分析：聂智梅、窦建新；文章审阅与修改：杜锦、谷伟军、吕朝晖、窦京涛、母义明。

利益冲突：所有作者均声明不存在利益冲突。

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图 1 患者2021年6月肾上腺CT图像

A.平扫CT图像，箭头示双侧肾上腺增粗，左侧肾上腺外侧肢见约6 mm低密度结节，CT值约-2 HU；B.增强CT图像，箭头示占位病变轻度强化

Figure 1. CT of the adrenal glands of the patient in June 2021

下载: 全尺寸图片幻灯片

图 2 患者CYP21A2基因测序结果

Figure 2. CYP21A2 gene sequencing of the patient

下载: 全尺寸图片幻灯片

表 1 午夜1 mg地塞米松抑制试验

Table 1. The 1 mg overnight dexamethasone suppression test

时间	硫酸脱氢表雄酮(μg/dL)	促肾上腺皮质激素(pmol/L)	皮质醇(nmol/L)	睾酮(nmol/L)
服药前	455(35~430)	18.2	356.61	3.19
服药后	244	2.86	26.43	1.19
抑制率	46%	84%	93%	63%

下载: 导出CSV

表 2 非经典型21-羟化酶缺乏症和多囊卵巢综合征相似及不同的特征

Table 2. Common and different characteristics of nonclassical 21-hydroxylase deficiency and polycystic ovary syndrome

区分点	非经典型21-羟化酶缺乏症	多囊卵巢综合征
流行病学特征
育龄期女性患病率(%)	0.1~0.05	4~6
高雄激素血症中的患病率(%)	1~10	50~80
不同种族的患病率差异	高危人群：德系犹太人、西班牙裔和地中海裔女性	差异较小
病理生理学	CYP21A2突变	遗传和环境因素
高雄激素血症表现	常见	常见
多毛	常见(59%)	常见(60%~70%)
痤疮	常见(33%)	常见(14%~25%)
随着年龄增长，多毛表现	相似或增加	减轻
妇科问题	常见	更常见
月经不规律	常见(17%)	很常见(90%)
多囊卵巢	常见(40%)	很常见(70%)
不孕	较轻(13%)	有(25%~50%)
妊娠并发症	自然流产常见(25%)	自然流产常见(20%~40%)
代谢异常
2型糖尿病	不常见(＜4%)	不太常见(3%~10%)
肥胖	常见(12.2%~41.0%)	很常见(28.4%~85.0%)
胰岛素抵抗	常见(29%)	很常见，更严重(60%~80%)
血脂异常	常见(46%)	很常见(21%~64%)
抑郁症或抑郁状态	常见(50%)	常见(21%~64%)
遗传方式	常染色体隐性	尚未阐明
特异性鉴别诊断	有	排除其他情况
基础17-OHP＞2 ng/mL	很常见(87%)	常见(25%)
激素诊断试验	促肾上腺皮质激素刺激后17-OHP	无
其他检测
LH/FSH＞2	不太常见(9%)	常见(22%~29%)
硫酸脱氢表雄酮	升高或升高明显	升高
睾酮	升高	同样升高
治疗选择	口服糖皮质激素、抗雄激素、克罗米芬柠檬酸盐	口服糖皮质激素、减肥、抗雄激素、二甲双胍、克罗米芬柠檬酸盐
17-OHP：17-羟孕酮；LH/FSH：促黄体生成素/卵泡刺激素

下载: 导出CSV

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