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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
PubMed

Insights

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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