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Congenital Adrenal Hyperplasia.

Author(s)
Rahat Malik Department of Pediatrics, Combined Military Hospital, Malir Cantt, Pakistan
Tariq Ghafoor Department of Pediatrics, Combined Military Hospital, Malir Cantt, Pakistan
Abstract
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.
Publication Details
Page(s) 277-278
DOI DOI not available
Published Journal: Pakistan Armed Forces Medical Journal, Volume: 54, Issue: 2, Year: 2004

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