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Emerging issues in disorders/differences of sex development (DSD).

Margaret P Adam1, Eric Vilain2

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Disorders/Differences of Sex Development (DSD) are congenital conditions affecting sex development. This review examines progress and challenges in DSD care a decade after a consensus statement, highlighting genetic complexities and ethical dilemmas.

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Area of Science:

  • Endocrinology
  • Genetics
  • Medical Ethics

Background:

  • Disorders/Differences of Sex Development (DSD) are congenital conditions with atypical sex development, affecting ~1% of the population.
  • DSD is associated with infertility, cancer risk, and psychosocial distress, with ongoing controversies in clinical management.
  • Stakeholder dissent exists regarding optimal care, including gender assignment, surgical timing, and disclosure.

Purpose of the Study:

  • To review progress and remaining uncertainties in DSD care ten years after the 2006 Consensus Statement.
  • To identify gaps in research and clinical practice for Disorders/Differences of Sex Development.
  • To address ethical dilemmas and complexities in DSD management.

Main Methods:

  • Review of current literature and clinical practices concerning Disorders/Differences of Sex Development.
  • Analysis of challenges in genetic variant interpretation with next-generation sequencing.
  • Examination of ethical considerations in sex assignment and patient/parent education.

Main Results:

  • Increasing complexity in interpreting genetic variants and understanding phenotypic variability in DSD.
  • Ethical dilemmas persist regarding sex assignment at birth, particularly in specific conditions like 5-alpha reductase type 2 deficiency.
  • Challenges identified in interdisciplinary care delivery and patient/parent education for DSD.

Conclusions:

  • A decade post-consensus, significant challenges remain in Disorders/Differences of Sex Development care, particularly concerning genetics and ethics.
  • Improved interdisciplinary collaboration and education are crucial for optimal DSD management.
  • Future research and clinical practice must address the intricacies of genetic diagnosis, phenotypic variability, and ethical decision-making in DSD.