46,XX sex reversal 2

46,XX sex reversal 2 is a rare condition that affects how sex characteristics develop. It is also known by names such as 46,XX Sex reversal type 2, SRXX2, and chromosome 17Q24 Duplication syndrome. Although detailed definitions are not available, the condition appears to involve a duplication in a specific region on chromosome 17, which can influence sexual development in people who typically have two X chromosomes. Research has identified the gene SOX9 as an important factor in this condition. SOX9 plays a role in the development of reproductive and skeletal features. Due to the complexity of genetic influences, knowledge about the full spectrum of this condition is still emerging. More studies are needed to understand the complete impact of these genetic differences. This summary brings together the available information from trusted sources, including OMIM and GARD, to provide a current picture of the condition.

Information about symptoms is currently limited for this condition.

Genetic factors are thought to be involved in 46,XX sex reversal 2. The gene SOX9, which plays a role in normal development, is associated with this condition. A duplication in a specific region on chromosome 17 (17q24) may affect how sex characteristics develop. However, detailed information about the genetic mechanisms remains limited.

Information about treatment is currently limited for this condition.

Information about prognosis is currently limited for this condition.

Information about current research is currently limited for this condition.