Disorders of sex development in developmental syndromes

Olaf Hiort*, Gabriele Gillessen-Kaesbachb

*Corresponding author for this work
7 Citations (Scopus)


Disorders of sex development comprise an array of congenital conditions with atypical development of chromosomal, gonadal, and anatomical sex affecting the genitourinary tract and in most instances also the endocrine-reproductive system. While the molecular basis of some of these disorders has been well established, it remains elusive in others. This holds true especially for disorders of sex development that are associated with other congenital malformations and abnormalities in a 'syndromic' condition. Syndromic disorders of sex development may be due to monogenic defects, biochemical abnormalities of steroid synthesis, or cytogenetic abnormalities comprising microdeletions or duplications or unbalanced rearrangements. This review will focus on the clinical description of syndromic disorders of sex development guiding towards the genetic classification. The characterization of the underlying diagnosis will improve genetic counseling of the family including prog-nosis and recurrence risk.

Original languageEnglish
Title of host publicationEndocrine Involvement in Developmental Syndromes
EditorsMarco Cappa, Gian Franco Bottazzo, Sandro Loche, Mohamad Maghnie
Number of pages7
Publication date2009
ISBN (Print)9783805590419
Publication statusPublished - 2009

Research Areas and Centers

  • Academic Focus: Center for Brain, Behavior and Metabolism (CBBM)


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