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Human sex differentiation and its abnormalities.

Claude J Migeon1, Amy B Wisniewski

  • 1Department of Pediatrics, Division of Pediatric Endocrinology, Johns Hopkins School of Medicine, 600 N. Wolfe Street, Park Building Room 211, Baltimore, MD 21287, USA. cmigeon@jhmi.edu

Best Practice & Research. Clinical Obstetrics & Gynaecology
|May 22, 2003
PubMed
Summary

This chapter reviews intersex conditions, also known as disorders of abnormal sex differentiation. It covers normal sex differentiation, various intersex syndromes, and treatment options for affected individuals, including resources for patients and medical staff.

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Area of Science:

  • Endocrinology
  • Genetics
  • Pediatrics

Background:

  • Normal sex differentiation involves complex genetic and hormonal processes.
  • Disorders of sex development (DSDs), or intersex conditions, arise from disruptions in these processes.
  • Understanding DSDs is crucial for appropriate patient management.

Purpose of the Study:

  • To provide a comprehensive review of abnormal sex differentiation.
  • To categorize and describe various intersex conditions.
  • To outline management strategies, including medical, surgical, and psychological treatments.

Main Methods:

  • Review of normal sex differentiation pathways.
  • Classification of intersex conditions based on chromosomal complements (46,XX, 46,XY, atypical).

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  • Description of clinical presentations and management approaches.

    • Main Results:

    • Syndromes of abnormal sex differentiation are categorized by karyotype.
    • Treatment options encompass medical, surgical, and psychological interventions.
    • Resources such as websites and support groups are identified.

    Conclusions:

    • Effective management of intersex conditions requires a multidisciplinary approach.
    • Patient education and support are integral to care.
    • This review provides a framework for understanding and managing DSDs.