isolated 46,XY gonadal dysgenesis

Testis development is a tightly regulated process that requires an efficient and coordinated spatiotemporal action of many factors, and it has been shown that several genes involved in gonadal development exert a dosage effect.

Chromosomal imbalances have been reported in several patients presenting with gonadal dysgenesis as part of severe dysmorphic phenotypes.

Etiology

 Xp21.2 interstitial duplication containing the DAX1 gene (17504899)

• duplication on Xp21.2 has been identified in patients with isolated gonadal dysgenesis.
• Most of described XY subjects with Xp21 duplications presented with gonadal dysgenesis as part of a more complex phenotype, including mental retardation and/or malformations.
• DAX1 is a dosage sensitive gene responsible for gonadal dysgenesis.
• DAX1 locus duplications have to be considered in the evaluation of all cases of 46,XY gonadal dysgenesis.

See also

 gonadal dysgenesis

• 46,XY gonadal dysgenesis

References

 Isolated 46,XY gonadal dysgenesis in two sisters caused by a Xp21.2 interstitial duplication containing the DAX1 gene. Barbaro M, Oscarson M, Schoumans J, Staaf J, Ivarsson SA, Wedell A. J Clin Endocrinol Metab. 2007 Aug;92(8):3305-13. PMID: 17504899 (Free)