Abstract
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 language | English |
|---|---|
| Title of host publication | Endocrine Involvement in Developmental Syndromes |
| Editors | Marco Cappa, Gian Franco Bottazzo, Sandro Loche, Mohamad Maghnie |
| Number of pages | 7 |
| Publication date | 2009 |
| Pages | 174-180 |
| ISBN (Print) | 9783805590419 |
| DOIs | |
| Publication status | Published - 2009 |
Research Areas and Centers
- Academic Focus: Center for Brain, Behavior and Metabolism (CBBM)
