title: 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-alpha hydroxylase deficiency, 2 with 3-beta 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.
authors.affiliation: Genetic-Metabolic Unit, Department of Pediatrics, Postgraduate Institute of Medical Education and Research (PGIMER), Chandigarh, India.
authors.forename: Ketan Prasad
authors.initials: KP
authors.lastname: Kulkarni
authors.forename: Inusha
authors.initials: I
authors.lastname: Panigrahi
authors.forename: Reena
authors.initials: R
authors.lastname: Das
authors.forename: Surinder
authors.initials: S
authors.lastname: Kaur
authors.forename: Ram Kumar
authors.initials: RK
authors.lastname: Marwaha
mesh_terms: D016009:Chi-Square Distribution; D002675:Child, Preschool; D012734:Disorders of Sex Development / Q000175:diagnosis* / Q000453:epidemiology; D005260:Female; D006801:Humans; D007194:India / Q000453:epidemiology; D007223:Infant; D007621:Karyotyping; D008297:Male; D010641:Phenotype