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.
Highlights
Congenital adrenal hyperplasia (CAH) is a group of autosomal recessive disorders that are characterized by impaired cortisol synthesis and adrenal androgen excess, caused by a deficiency in one of the enzymes necessary for cortisol production [1,2,3]
Bidet et al analyzed 190 females with nonclassical or late-onset CAH (NC-CAH), 95 of whom wanted to become pregnant [13]. They reported that 187 pregnancies occurred in 85 females, which resulted in 141 births from 82 individuals
The miscarriage rate was 6.5% and 26.3% in the patients treated with GCC and untreated patients, respectively
Summary
The most common form of congenital adrenal hyperplasia (CAH) is 21-hydroxylase (21-OH) deficiency due to mutation of the CYP21A2 gene. We report a previously undiagnosed female who gave birth to a normal male child and is planning to become pregnant again. 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. Females with NC-CAH who desire pregnancy must be aware of the risk of having an infant with C-CAH
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