Abstract
BACKGROUND: Ambiguous genitalia are currently defined as disorders of sexual development (DSD) and constitute a complex, major social and medical emergency which is fortunately very rare. In developed countries, abnormalities of external genitalia occur in 1.7% of new born. Worldwide, approximately 1 in 2000 children are born with disorders of sexual development. Of all the causes, congenital adrenal hyperplasia remains the most common Aetiology. AIMS AND OBJECTIVES: The present study aims to analyse the various disorders of sexual development, their clinical presentation, histopathological findings and their treatment modalities. MATERIAL AND METHODS: The present study was undertaken at the Department of Pathology, Paediatric referral Hospital, Hyderabad from June 2004 to May 2009, eleven specimens were from children who presented with disorders of sexual development. Detailed case history was taken and all the results were reviewed. The specimens received included Gonadectomies and biopsies from gonads. The Haematoxylin and eosin stained slides were histologically evaluated. RESULTS: This study included a total of 11 children with disorders of sexual development, aged between 1 day and 9 years. Among them 7 were being reared as males, 3 as females, 1 as ambiguous. Out of 11 cases studied, 3 were diagnosed as male pseudo hermaphroditism, 1 female pseudo hermaphroditism, 1 male gonadal dysgenesis, 3 True hermaphroditism and 3 abnormal gonadal development. CONCLUSION: Histopathological confirmation of the gonadal sex plays an important role in the management of these children .There should be no change in sex beyond the second year of life. In the gender assignment, the gold standard is that genetic females should be reared as females. In genetic males, gender assignment is based on size of phallus. Early gender assignment & precise diagnosis in disorders of sexual development is important. Surgical correction, hormonal supplementation and psychosocial management are the various treatment options available.
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