Related Experiment Video

Updated: Jan 21, 2026

Sex Differences in Mouse Hippocampal Astrocytes after In-Vitro Ischemia
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Management of 46,XY Differences/Disorders of Sex Development (DSD) Throughout Life

Amy B Wisniewski1, Rafael L Batista2, Elaine M F Costa2

  • 1Psychology Department, Oklahoma State University, Stillwater, Oklahoma.

Endocrine Reviews
|August 1, 2019
PubMed

Insights

This review updates clinical care for 46,XY disorders of sex development (DSD), focusing on diagnosis, treatment, and long-term outcomes. It highlights the need for interdisciplinary care and further research into specific etiologies and interventions for improved patient quality of life.

Area of Science:

  • Pediatric Endocrinology
  • Genetics
  • Reproductive Medicine

Background:

  • Disorders of Sex Development (DSD) encompass congenital conditions with sex development discordance.
  • Significant advancements in managing 46,XY DSD have occurred since 2006.
  • Current understanding requires updates on patient outcomes and care strategies.

Purpose of the Study:

  • To comprehensively review current knowledge on 46,XY DSD.
  • To address key aspects including diagnosis, treatment, and quality of life.
  • To identify areas needing further research and collaboration.

Main Methods:

  • Literature review of recent advancements in 46,XY DSD care.
  • Synthesis of data on morbidity, mortality, diagnostics, and treatment outcomes.
  • Identification of knowledge gaps and future research priorities.

Main Results:

  • Progress in clinical care for 46,XY DSD patients and families.
  • Emphasis on interdisciplinary healthcare teams and molecular diagnosis.
  • Recognition of areas requiring further investigation, such as genitoplasty and long-term quality of life.

Conclusions:

  • Interdisciplinary care and molecular diagnosis are crucial for 46,XY DSD management.
  • Further research is essential to optimize long-term outcomes, fertility, and sexual function.
  • Continued collaboration and patient registries are vital for advancing care.

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