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Studies of a Cohort of 46,XY with DSD Including Steroid Biosynthesis Deficiencies

  • Yves MorelEmail author
  • Ingrid Plotton
  • Delphine Mallet
  • Marc Nicolino
  • Anne-Marie Bertrand
  • Michel David
  • Claire Nihoul-Fekete
  • Pierre Chatelain
Conference paper
Part of the Advances in Experimental Medicine and Biology book series (AEMB, volume 707)

Abstract

Mutations of genes involved in sex development have been largely reported in the literature, but few data are available to evaluate the proportion of each gene defect in 46,XY DSD patients. We report molecular studies of a cohort of 644 families.

Keywords

Androgen Receptor Gene Genetic Lesion Hormonal Data SRD5A2 Gene Suspected Defect 
These keywords were added by machine and not by the authors. This process is experimental and the keywords may be updated as the learning algorithm improves.

Notes

Acknowledgment

The authors thank all clinicians who have sent DNA of their patients.

Copyright information

© Springer Science+Business Media, LLC 2011

Authors and Affiliations

  • Yves Morel
    • 1
    Email author
  • Ingrid Plotton
    • 1
  • Delphine Mallet
    • 1
  • Marc Nicolino
    • 2
  • Anne-Marie Bertrand
    • 3
  • Michel David
    • 2
  • Claire Nihoul-Fekete
    • 4
  • Pierre Chatelain
    • 2
  1. 1.Endocrinologie Moléculaire et Maladies RaresCBPELyon-BronFrance
  2. 2.Service d’Endocrinologie PédiatriqueHFMELyon-BronFrance
  3. 3.Service de PédiatrieCHU de BesançonBesançonFrance
  4. 4.Service de Chirurgie Pédiatrique, Hôpital Necker Enfants MaladesParisFrance

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