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Pediatric disorders of sex development

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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.

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Abbreviations

ABS:

Antley-Bixler syndrome

CAH:

Congenital adrenal hyperplasia

DSD:

Disorders of sexual differentiation

GD:

gonadal dysgenesis

HSD:

hydroxysteroid dehydrogenase

MHKR S:

Mayer Hauser Kuster and Rokitansky syndrome

PAIS:

partial androgen insensitivity syndrome

POR:

cytochrome P450 oxidoreductase

5α RD:

5 α reductase deficiency

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Authors and Affiliations

  1. Genetic-Metabolic Unit, Department of Pediatrics, Postgraduate Institute of Medical Education and Research (PGIMER), Chandigarh, India

    Ketan Prasad Kulkarni, Inusha Panigrahi, Surinder Kaur & Ram Kumar Marwaha

  2. Department of Hematology, Postgraduate Institute of Medical Education and Research (PGIMER), Chandigarh, India

    Reena Das

  3. Pediatric Genetics, Advanced Pediatric Center, PGIMER, Chandigarh-12, India

    Inusha Panigrahi

Authors
  1. Ketan Prasad Kulkarni
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  2. Inusha Panigrahi
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  3. Reena Das
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  4. Surinder Kaur
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  5. Ram Kumar Marwaha
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Corresponding author

Correspondence to Inusha Panigrahi.

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Kulkarni, K.P., Panigrahi, I., Das, R. et al. Pediatric disorders of sex development. Indian J Pediatr 76, 956–958 (2009). https://doi.org/10.1007/s12098-009-0193-z

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  • DOI: https://doi.org/10.1007/s12098-009-0193-z

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