Review and management of 46,XY Disorders of Sex Development

Eric Z. Massanyi, Heather N. Dicarlo, Claude J. Migeon, John P. Gearhart

Research output: Contribution to journalArticlepeer-review

Abstract

Disorders of Sex Development (DSD) among 46,XY individuals are rare and challenging conditions. Abnormalities of karyotype, gonadal formation, androgen synthesis, and androgen action are responsible for the multiple disorders that result in undervirilization during development. Phenotypic appearance and timing of presentation are quite variable. The focus of treatment has shifted from early gender assignment and corrective surgery to careful diagnosis, proper education of patients and their families, and individualized treatment by a multi-disciplinary team. The modern management of these patients is difficult and controversial. Conflicting data on long-term outcomes of these individuals have been reported in the literature. The various etiologies of 46,XY DSD, current approaches to diagnosis and treatment, and reported long-term results are reviewed.

Original languageEnglish (US)
Pages (from-to)368-379
Number of pages12
JournalJournal of pediatric urology
Volume9
Issue number3
DOIs
StatePublished - Jun 1 2013

Keywords

  • 46,XY Disorders of Sex Development
  • Androgen insensitivity syndrome
  • Gender assignment
  • Vaginoplasty

ASJC Scopus subject areas

  • Pediatrics, Perinatology, and Child Health
  • Urology

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