Screening for congenital adrenal hyperplasia in infertile women with high androgenemia during childbearing age
10.3760/cma.j.cn311282-20190703-00253
- VernacularTitle:在育龄期不孕的高雄激素血症女性中筛查先天性肾上腺皮质增生症
- Author:
Jing WANG
1
;
Lingyu ZHANG
;
Yao QIN
;
Xiang MA
;
Mei ZHANG
Author Information
1. 南京医科大学第一附属医院内分泌科 210029(现在南京市浦口区中心医院内分泌科 211800)
- From:
Chinese Journal of Endocrinology and Metabolism
2020;36(3):240-245
- CountryChina
- Language:Chinese
-
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]; ACTH stimulation test showed that the 17-hydroxyprogesterone (17-OHP) in CAH group was significantly higher than that in PCOS group [(101.0±100.8 vs 1.4±0.8) ng/ml, P<0.05]. There was no significant difference between CAH group and IHA group [(101.0±100.8 vs 3.0±1.8)ng/ml, 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.
