title: Nonclassical Congenital Adrenal Hyperplasia and Pregnancy.
abstract: 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.
authors.affiliation: Department of Endocrinology and Metabolism, Faculty of Medicine, Yildirim Beyazit University, 06800 Ankara, Turkey.
authors.forename: Neslihan
authors.initials: N
authors.lastname: Cuhaci
authors.affiliation: Department of Endocrinology and Metabolism, Faculty of Medicine, Yildirim Beyazit University, 06800 Ankara, Turkey.
authors.forename: Cevdet
authors.initials: C
authors.lastname: Aydın
authors.affiliation: Department of Genetics, Dıskapı Yildirim Beyazit Education and Research Hospital, Ankara, Turkey.
authors.forename: Ahmet
authors.initials: A
authors.lastname: Yesilyurt
authors.affiliation: Department of Genetics, Dıskapı Yildirim Beyazit Education and Research Hospital, Ankara, Turkey.
authors.forename: Ferda Alpaslan
authors.initials: FA
authors.lastname: Pınarlı
authors.affiliation: Department of Endocrinology and Metabolism, Faculty of Medicine, Yildirim Beyazit University, 06800 Ankara, Turkey.
authors.forename: Reyhan
authors.initials: R
authors.lastname: Ersoy
authors.affiliation: Department of Endocrinology and Metabolism, Faculty of Medicine, Yildirim Beyazit University, 06800 Ankara, Turkey.
authors.forename: Bekir
authors.initials: B
authors.lastname: Cakir