Classification and presentation of disorders of sexual development (DSD)

Kanthi Bangalore Krishna, Selma F. Witchel, Christopher Houk, Peter Lee

Research output: Chapter in Book/Report/Conference proceedingChapter

Abstract

The term DSD describes congenital conditions having atypical development of chromosomal, gonadal or anatomical sex, commonly presenting at birth or adolescence. Advances in understanding the molecular genetic causes of abnormal sexual development and heightened awareness of the ethical and patient-advocacy issues prompted in 2005 to classify these conditions forgoing terms like hermaphroditism and intersex. However, an all-inclusive classification accurately describing and separating individual conditions is still elusive given the overlap of some conditions and phenotypic variability. However, the utmost importance of making accurate diagnoses has resulted in several recent pragmatic approaches. Optimal patient management must be individualized and multidisciplinary.

Original languageEnglish (US)
Title of host publicationEncyclopedia of Endocrine Diseases
PublisherElsevier
Pages476-485
Number of pages10
ISBN (Electronic)9780128122006
ISBN (Print)9780128121993
DOIs
StatePublished - Jan 1 2018

Keywords

  • 46,XX DSD
  • 46,XY DSD
  • Androgen
  • Androgen-insensitivity syndrome
  • Anti-Müllerian hormone
  • Congenital adrenal hyperplasia
  • Delayed puberty
  • DSD
  • Gonadal dysgenesis
  • Gynecomastia
  • Primary amenorrhea
  • Virilization

ASJC Scopus subject areas

  • Medicine(all)

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