Cuhaci Neslihan, Aydın Cevdet, Yesilyurt Ahmet, Pınarlı Ferda Alpaslan, Ersoy Reyhan, Cakir Bekir
Department of Endocrinology and Metabolism, Faculty of Medicine, Yildirim Beyazit University, 06800 Ankara, Turkey.
Department of Genetics, Dıskapı Yildirim Beyazit Education and Research Hospital, Ankara, Turkey.
Case Rep Endocrinol. 2015;2015:296924. doi: 10.1155/2015/296924. Epub 2015 Oct 8.
Objective. The most common form of congenital adrenal hyperplasia (CAH) is 21-hydroxylase (21-OH) deficiency due to mutation of the CYP21A2 gene. Patients with nonclassical CAH (NC-CAH) are usually asymptomatic at birth and typically present in late childhood, adolescence, or adulthood with symptoms of excessive androgen secretion. Subfertility is relative in NC-CAH, but the incidence of spontaneous miscarriage is higher. Here, we report a previously undiagnosed female who gave birth to a normal male child and is planning to become pregnant again. Case Report. A 32-year-old female was referred to our clinic for obesity. Her medical history revealed that she had had three pregnancies. She was planning to become pregnant again. Her laboratory results revealed that she had NC-CAH. Since her husband is the son of her aunt and she had miscarriages and intrauterin exitus in her history, their genetic analyses were performed. Conclusion. Since most patients with NC-CAH have a severe mutation, these patients may give birth to a child with the classical CAH (C-CAH) if their partner is also carrying a severe mutation. Females with NC-CAH who desire pregnancy must be aware of the risk of having an infant with C-CAH.
目的。先天性肾上腺皮质增生症（CAH）最常见的形式是由于CYP21A2基因突变导致的21-羟化酶（21-OH）缺乏。非经典型CAH（NC-CAH）患者出生时通常无症状，典型表现为儿童晚期、青春期或成年期出现雄激素分泌过多的症状。NC-CAH患者存在相对的生育力低下，但自然流产的发生率较高。在此，我们报告一名此前未被诊断出患有该病的女性，她生育了一名正常男婴，并且正计划再次怀孕。病例报告。一名32岁女性因肥胖被转诊至我们的诊所。她的病史显示她曾有过三次怀孕经历。她正计划再次怀孕。她的实验室检查结果显示她患有NC-CAH。由于她的丈夫是她姑姑的儿子，且她有流产和宫内死胎史，因此对他们进行了基因分析。结论。由于大多数NC-CAH患者存在严重突变，如果其伴侣也携带严重突变，这些患者可能会生育患有经典型CAH（C-CAH）的孩子。希望怀孕的NC-CAH女性必须意识到生育患有C-CAH婴儿的风险。
