Pediatric disorders of sex development.
Indian J Pediatr
;
2009 Sept; 76(9): 956-958
Article
in English
| IMSEAR
| ID: sea-142381
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.
Full text:
Available
Index:
IMSEAR (South-East Asia)
Main subject:
Phenotype
/
Disorders of Sex Development
/
Female
/
Humans
/
Male
/
Chi-Square Distribution
/
Child, Preschool
/
India
/
Infant
/
Karyotyping
Country/Region as subject:
Asia
Language:
English
Journal:
Indian J Pediatr
Year:
2009
Type:
Article
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