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Pediatric disorders of sex development
Ketan Prasad Kulkarni1, Inusha Panigrahi, Reena Das
1Genetic-Metabolic Unit, Department of Pediatrics, Postgraduate Institute of Medical Education and Research (PGIMER), Chandigarh, India.
Indian Journal of Pediatrics
|November 12, 2009
Summary
This study analyzed phenotype-karyotype correlations in North Indian children with disorders of sexual differentiation (DSD). Findings highlight the need for improved diagnostics and a multidisciplinary approach for DSD management.
Area of Science:
- Pediatric Endocrinology
- Genetics
- Reproductive Medicine
Background:
- Disorders of Sexual Differentiation (DSD) require a multidisciplinary management approach.
- Understanding the phenotype-karyotype correlation is crucial for accurate diagnosis and management of DSD in pediatric populations.
Purpose of the Study:
- To investigate the correlation between phenotype and karyotype in North Indian children diagnosed with DSD.
- To identify common causes and demographic characteristics of DSD in the studied population.
Main Methods:
- Retrospective retrieval and analysis of pediatric DSD patient records.
- Documentation of patient characteristics, including age at presentation, gender assignment, karyotype, and underlying etiology.
- Categorization of DSD causes, with a focus on Congenital Adrenal Hyperplasia (CAH) subtypes.
Main Results:
- A total of 58 children with DSD were analyzed, with a majority raised as males (74.1%).
- The most frequent karyotypes were 46XY (77.6%) and 46XX (20.7%).
- Congenital Adrenal Hyperplasia (CAH) was the leading cause (36.2%), followed by gonadal dysgenesis. Specific CAH subtypes identified included 17-alpha hydroxylase deficiency, 3-beta HSD deficiency, and lipoid adrenal hyperplasia.
Conclusions:
- An observed excess of genetic males among DSD patients may be influenced by socio-cultural factors and gender bias.
- There is a significant need to enhance diagnostic facilities for DSD.
- Implementing a comprehensive team-based approach is essential for effective DSD management.
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