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Disorders of sexual development

Thomas F Kolon1

  • 1Division of Pediatric Urology, The Children's Hospital of Philadelphia, University of Pennsylvania School of Medicine, 34th Street and Civic Center Boulevard, Philadelphia, PA 19104, USA. kolon@email.chop.edu

Current Urology Reports
|April 19, 2008
PubMed

Insights

Disorders of sexual development arise from disruptions in typical male or female development pathways. This review covers the diagnosis and management of these complex conditions.

Area of Science:

  • Human sexual development
  • Endocrinology
  • Genetics

Background:

  • The female phenotype is the default in human sexual development.
  • Failure of testis determination leads to female development.
  • Genetic alterations can cause partial testicular development and varied masculinization.

Purpose of the Study:

  • To review the diagnosis and management of disorders of sexual development.
  • To highlight recent advances in understanding the molecular basis of these disorders.
  • To discuss the role of hormonal timing and psychological factors.

Main Methods:

  • Review of current literature on disorders of sexual development.
  • Analysis of recent advances in molecular genetics and endocrinology.
  • Examination of consensus statements on nomenclature and patient care.

Main Results:

  • Disorders of sexual development involve complex genetic and hormonal factors.
  • The timing of hormonal exposure is crucial for proper development.
  • Recent research is clarifying the molecular underpinnings of these conditions.

Conclusions:

  • Effective diagnosis and management require understanding the molecular basis and hormonal influences.
  • Updated nomenclature and consideration of psychological aspects are important.
  • Further research is needed to fully unravel the complexities of sexual development disorders.

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