Neglected congenital adrenal hyperplasia presenting as recurrent abdominal pain

Abstract

Congenital adrenal hyperplasia (CAH) is an autosomal recessive disorder with the incidence of the classic type being 1:15,000 births worldwide. It results from defective synthesis of steroid hormones because of deficiency of one of the five enzymes required for synthesis of cortisol. Cases of severe forms of CAH are often missed in developing countries where there is no program for newborn screening with many of them dying in neonatal periods. Management of the mild forms are also hindered or delayed because of superstitions, ignorance and poverty. We present an 11years old girl who presented with abnormal genital since birth and recurrent monthly lower abdominal pain of eight month duration. She had Tanner stage 4 breasts, normal female pubic hair distribution, clitoromegaly, fused scrotalized labia with urogenital sinus and absent vaginal opening. Abdominal ultrasound showed normal female reproductive organs; she had advanced bone age of 16years and elevated serum 17-hydroxyprogesterone level. She’s being worked up for possible genitoplasty.