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Disorders of sexual development.

Bonnie McCann-Crosby1, V Reid Sutton2

  • 1Division of Pediatric Endocrinology, Baylor College of Medicine, Texas Children's Hospital, 6701 Fannin Street, Houston, TX 77030, USA.

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Summary

Disorders of sexual development (DSDs) involve a mismatch between genetic, hormonal, and anatomical sex. Prompt, multidisciplinary evaluation is crucial for diagnosis and infant care.

Keywords:
Ambiguous genitaliaDisorders of sexual development (DSDs)NeonatesSex assignment

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Area of Science:

  • Pediatric Endocrinology
  • Genetics
  • Neonatology

Background:

  • Disorders of Sexual Development (DSDs) are characterized by discordance between chromosomal, gonadal, and anatomical sex.
  • These conditions often present as ambiguous genitalia in newborns, necessitating urgent medical assessment.
  • Accurate diagnosis is vital for appropriate infant management and sex assignment.

Purpose of the Study:

  • To review normal sexual development.
  • To present diagnostic algorithms for evaluating infants with ambiguous genitalia.
  • To outline conditions causing ambiguous genitalia in newborns.

Main Methods:

  • Literature review of normal sexual development.
  • Analysis of established diagnostic pathways for DSDs.
  • Compilation of common causes of ambiguous genitalia.

Main Results:

  • Normal sexual development follows a complex, genetically regulated pathway.
  • Diagnostic algorithms guide the systematic evaluation of ambiguous genitalia.
  • Various genetic, hormonal, and anatomical factors can lead to DSDs.

Conclusions:

  • Neonatologists must collaborate with multidisciplinary teams for DSD evaluation and management.
  • Early and accurate diagnosis of DSDs is essential for optimal infant outcomes.
  • Understanding normal sexual development aids in diagnosing and managing DSDs.