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DSDs: genetics, underlying pathologies and psychosexual differentiation.

Valerie A Arboleda1, David E Sandberg2, Eric Vilain1

  • 1Department of Human Genetics, David Geffen School of Medicine, University of California Los Angeles, 695 Charles E. Young Drive South, Los Angeles, CA 90095-7088, USA.

Nature Reviews. Endocrinology
|August 6, 2014
PubMed
Summary

Mammalian sex determination involves gonad development into testes or ovaries. Disruptions lead to disorders of sex development (DSDs), impacting physical traits and requiring complex decisions for affected individuals and families.

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Area of Science:

  • Developmental Biology
  • Genetics
  • Endocrinology

Background:

  • Mammalian sex determination is a complex genetic process involving bipotential gonad differentiation into testes or ovaries.
  • Disruptions in this process can lead to disorders of sex development (DSDs), presenting a spectrum of gonadal and genital phenotypes.
  • Sex development encompasses determination (gonad formation) and differentiation (hormonal and tissue development).

Purpose of the Study:

  • To review the underlying genetics of human sex determination.
  • To discuss the genetic classification of disorders of sex development (DSDs).
  • To explore considerations surrounding gender development and identity in individuals with DSDs.

Main Methods:

  • Review of existing literature on mammalian sex determination genetics.
  • Analysis of genetic classifications for disorders of sex development (DSDs).
  • Discussion of clinical and ethical considerations in DSD management.

Main Results:

  • Human sex determination relies on intricate genetic pathways.
  • Disorders of sex development (DSDs) arise from genetic lesions, causing diverse phenotypes.
  • Emerging data is refining the genetic classification and understanding of DSDs.

Conclusions:

  • Understanding the genetics of sex determination is crucial for diagnosing and managing DSDs.
  • A comprehensive approach is needed to address the medical, ethical, and psychosocial aspects of DSDs.
  • Further research into genetic factors and their impact on gender identity is essential.