Update on disorders of sex development

Christopher P. Houk, Peter A. Lee

Research output: Contribution to journalReview article

20 Citations (Scopus)

Abstract

Purpose of review: To review the recent information regarding disorders of sex development (DSD) which contribute to, as well as highlight, the need for greater understanding of genetic mutations and the dire need for specific outcome information. Recent findings: New information is primarily related to the identification of genetic mutations and other gene variations that impact reproductive system development. These new data add to the increasingly complex list of genes and the multigenetic effects involved in DSD. Several reviews outline the approach to diagnosis and management of the patient with DSD and the importance of a multidisciplinary team. These reviews continue to demonstrate the lack of specific guidelines for complex DSD patients for whom sex assignment is problematic. Summary: Although genetic research continues to define new and multigenetic factors involved in the development of DSD, this review of the medical literature also underscores the fact that scientific understanding remains inadequate in many areas of DSD to provide solid guidelines for approaching the more controversial questions in the DSD patient. Accordingly, the need for larger, outcome studies using subjects with verified diagnoses are needed. Optimally, these studies would account for potentially confounding differences in genetic, social, and psychological factors to help answer the pressing question facing every clinician dealing with DSD patients - what is the relationship between medical decision-making (such as sex assignment and genital surgery) and future quality of life and adaptation.

Original languageEnglish (US)
Pages (from-to)28-32
Number of pages5
JournalCurrent Opinion in Endocrinology, Diabetes and Obesity
Volume19
Issue number1
DOIs
StatePublished - Feb 1 2012

Fingerprint

Disorders of Sex Development
Guidelines
Genetic Research
Mutation
Genes
Quality of Life
Outcome Assessment (Health Care)
Psychology

Keywords

  • 46XY DSD
  • disorders of sex development
  • mutations in DSD

ASJC Scopus subject areas

  • Internal Medicine
  • Endocrinology, Diabetes and Metabolism
  • Endocrinology
  • Nutrition and Dietetics

Cite this

Update on disorders of sex development. / Houk, Christopher P.; Lee, Peter A.

In: Current Opinion in Endocrinology, Diabetes and Obesity, Vol. 19, No. 1, 01.02.2012, p. 28-32.

Research output: Contribution to journalReview article

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