作者
Cigdem Binay, Enver Simsek, Oguz Cilingir, Zafer Yuksel, Ozden Kutlay, Sevilhan Artan
发表日期
2014
期刊
International Journal of Endocrinology
卷号
2014
期号
1
页码范围
768506
出版商
Hindawi Publishing Corporation
简介
Background. Nonclassic congenital adrenal hyperplasia (NCAH), caused by mutations in the gene encoding 21‐hydroxylase, is a common autosomal recessive disorder. In the present work, our aim was to determine the prevalence of NCAH presenting as premature pubarche (PP), hirsutism, or polycystic ovarian syndrome (PCOS) and to evaluate the molecular spectrum of CYP21A2 mutations in NCAH patients. Methods. A total of 126 patients (122 females, 4 males) with PP, hirsutism, or PCOS were included in the present study. All patients underwent an ACTH stimulation test. NCAH was considered to be present when the stimulated 17‐hydroxyprogesterone plasma level was >10 ng/mL. Results. Seventy‐one of the 126 patients (56%) presented with PP, 29 (23%) with PCOS, and 26 (21%) with hirsutism. Six patients (4,7%) were diagnosed with NCAH based on mutational analysis. Four different mutations …
引用总数
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