Screening for congenital adrenal hyperplasia in infertile women with high androgenemia during childbearing age

Q4 Medicine

中华内分泌代谢杂志 Pub Date : 2020-03-25 DOI:10.3760/CMA.J.CN311282-20190703-00253

Jing Wang, Lingyu Zhang, Yao Qin, Xiang Ma, Meimei Zhang

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Abstract

Objective The causes of infertility are complex and diverse, and congenital adrenal hyperplasia (CAH) is often overlooked in screening for infertility. In this study, CAH was diagnosed in women with high androgenemia who were infertile during childbearing age, and the diagnosis and treatment of CAH in pregnant women was investigated. Methods This study included 20 women with high androgenemia and infertility in the childbearing age who were referred to the Endocrinology Department after visiting the Reproductive Medicine Center of the First Affiliated Hospital of Nanjing Medical University from December 2016 to April 2019. All patients were tested for blood hormone levels, glucose, and lipid metabolism, underwent ACTH stimulation test, uterus and bilateral ovarian B-ultrasound, adrenal computed cosmography (CT), etc. Full-length sequencing of the CYP21A2 gene was performed as necessary. Results Among the 20 women with hyperandrogenism who were infertile, there were 7 cases of CAH (35.0%), including 6 cases of 21-hydroxylase deficiency (21-OHD) confirmed by gene sequencing; 10 cases of polycystic ovary syndrome (PCOS); 3 cases of idiopathic hyperandrogenemia (IHA). Sex hormone results showed that testosterone in CAH group was significantly higher than that in PCOS group and IHA group [(4.4±2.0 vs 2.9±0.4, 2.8±0.8) nmol/L, P 0.05]. However, the 17-OHP (60 min) in CAH group was significantly higher than that in PCOS group and IHA group [(200.1±80.8 vs 3.1±1.2, 3.4±0.2) ng/ml, P<0.05]. Glucocorticoid therapy was given to patients with CAH, and 4 patients had successful pregnancy. No clinical symptoms of CAH and external genital malformations were found in the offspring of patients who had been delivered. Conclusions The ACTH stimulation test is of great significance in the differential diagnosis of CAH, especially 21-OHD. Genetic testing helps to identify the type of mutation in CAH patients. On the one hand, glucocorticoid therapy may improve the pregnancy rate of CAH patients, on the other hand, it can help to reduce the status of maternal high androgen and avoid masculine manifestation of female offspring. Key words: Infertility; Hyperandrogenism; Congenital adrenal hyperplasia; ACTH stimulation test

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育龄期高雄激素血症不孕妇女先天性肾上腺增生的筛查

目的不孕症的病因复杂多样，先天性肾上腺增生症(CAH)在不孕症筛查中常被忽视。本研究在育龄期不孕的高雄激素血症女性中诊断出CAH，并对孕妇CAH的诊断和治疗进行探讨。方法选取2016年12月至2019年4月在南京医科大学第一附属医院生殖医学中心转诊至内分泌科的育龄期高雄激素血症合并不孕症女性20例。所有患者均检测血激素水平、血糖、脂质代谢，行ACTH刺激试验、子宫及双侧卵巢b超、肾上腺CT等检查。必要时进行CYP21A2基因的全长测序。结果20例高雄激素症不孕妇女中，CAH 7例(35.0%)，其中6例经基因测序证实为21-羟化酶缺乏症(21-OHD);多囊卵巢综合征(PCOS) 10例;特发性高雄激素血症(IHA) 3例。性激素结果显示，CAH组睾酮显著高于PCOS组和IHA组[(4.4±2.0 vs 2.9±0.4,2.8±0.8)nmol/L, P 0.05]。CAH组17-OHP (60 min)明显高于PCOS组和IHA组[(200.1±80.8 vs 3.1±1.2,3.4±0.2)ng/ml, P<0.05]。对CAH患者给予糖皮质激素治疗，4例成功妊娠。分娩患者的后代未发现CAH和外生殖器畸形的临床症状。结论ACTH刺激试验对CAH特别是21-OHD的鉴别诊断有重要意义。基因检测有助于确定CAH患者的突变类型。糖皮质激素治疗一方面可以提高CAH患者的妊娠率，另一方面可以帮助降低母体雄激素高的状态，避免雌性后代出现男性化表现。关键词:不孕症;雄激素过多症;先天性肾上腺增生;ACTH刺激试验

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来源期刊

中华内分泌代谢杂志 Medicine-Endocrinology, Diabetes and Metabolism

CiteScore

0.60

自引率

0.00%

发文量

7243

期刊介绍： The Chinese Journal of Endocrinology and Metabolism was founded in July 1985. It is a senior academic journal in the field of endocrinology and metabolism sponsored by the Chinese Medical Association. The journal aims to be the "Chinese broadcaster of new knowledge on endocrinology and metabolism worldwide". It reports leading scientific research results and clinical diagnosis and treatment experience in endocrinology and metabolism and related fields, as well as basic theoretical research that has a guiding role in endocrinology and metabolism clinics and is closely integrated with clinics. The journal is a core journal of Chinese science and technology (a statistical source journal of Chinese science and technology papers), and is included in Chinese and foreign statistical source journal databases such as the Chinese Science and Technology Papers and Citation Database, Chemical Abstracts, and Scopus.