Pediatric disorders of sex development.

Abstract
The management of disorders of sexual differentiation (DSD) involves a multidisciplinary approach. The main aim of analysis was to study the phenotype-karyotype correlation in North Indian children with DSD. The records of pediatric DSD were retrieved and characteristics noted. Of total of 58 children, 43 (74.1%) and 10 (17.2%) were raised as males and females respectively. The mean age at presentation was 31.3±9 months. The karyotype was 46XY in 45 (77.6%) and 46XX in 12 (20.7%). CAH was commonest cause of DSD (36.2%), followed by gonadal dysgenesis. Of the 15 patients of 46 XY CAH, there were 5 with 17-α hydroxylase deficiency, 2 with 3-β HSD deficiency and one case of lipoid adrenal hyperplasia. There was an excess of genetic males, possibly due to prevalent socio-cultural factors and gender bias favoring males. There is a need to improve the diagnostic facilities and incorporate a team approach in management of DSD.
Description
Keywords
Ambiguous genitalia, Children, Hypospadias, Karyotype, Phenotype
Citation
Kulkarni Ketan Prasad, Panigrahi Inusha, Das Reena, Kaur Surinder, Marwaha Ram Kumar. Pediatric disorders of sex development. Indian Journal of Pediatrics. 2009 Sept; 76(9): 956-958.