Publication:

Pregnancy outcome in a woman with congenital adrenal hyperplasia: a rare case report

Congenital adrenal hyperplasia (CAH) refers to family of inherited disorders of adrenal steroidogenesis caused by mutations in genes encoding steroidogenic enzymes involved in glucocorticoid synthesis/in cofactor enzyme P450 oxidoreductase that serves as electron donor to CYP21A2 and CYP17A1 with autosomal recessive inheritance pattern. A 24-year-old primigravida with simple virilizing CAH who underwent reconstructive surgery in childhood. During pregnancy, she developed severe preeclampsia requiring preterm emergency caesarean delivery at 30+6 weeks period of gestation. Stress steroid supplementation was administered intrapartum. Both mother and neonate had a favourable outcome with close multidisciplinary management. Early diagnosis, timely reconstructive surgery, optimized steroid replacement, and multidisciplinary care are crucial for favourable maternal and neonatal outcomes in CAH pregnancies.