Rahat Malik, Tariq Ghafoor.
Congenital Adrenal Hyperplasia.
Pak Armed Forces Med J Jan ;54(2):277-8.

An 18 months old child presented with abnormal external genitalia, with absence of scrotal development and testis. The neonatal and developmental history of the child was insignificant. On examination of genitalia, a phallus of 2cm in size with underdeveloped labioscrotal folds and non-palpable gonads. The urethral meatus was below the tip of phallus. Ultrasound of the lower abdomen and pelvis revealed a rudimentary, underdeveloped uterus. Hormonal studies showed a markedly raised level of 17 hydroxyprogresterone. Karyotyping confirmed 46XX configuration of chromosomes, hence the diagnosis of Congenital Adrenal hyperplasia was made.

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