A Novel SRY Gene Mutation p.F109L in a 46,XY Female with Complete Gonadal Dysgenesis.

Autor: Andonova S; National Genetic Laboratory - UHOG x2018;Maichin dom', Sofia, Bulgaria., Robeva R, Sirakov M, Mainhard K, Tomova A, Ledig S, Kumanov P, Savov A
Jazyk: angličtina
Zdroj: Sexual development : genetics, molecular biology, evolution, endocrinology, embryology, and pathology of sex determination and differentiation [Sex Dev] 2015; Vol. 9 (6), pp. 333-7. Date of Electronic Publication: 2016 Feb 13.
DOI: 10.1159/000443807
Abstrakt: 46,XY complete gonadal dysgenesis (CGD) is a disorder of sexual development that can result from different mutations in genes associated with sex determination. Patients are phenotypically females, and the disease is often diagnosed in late adolescence because of delayed puberty. Here, we present the clinical and molecular data of a 46,XY female CGD patient with gonadoblastoma with dysgerminoma and incidentally found inherited thrombophilia. The clinical significance of the described de novo SRY gene mutation c.325T>C (p.F109L) is discussed. This case report supports the critical role of the HGM domain in the SRY gene and the need of a multidisciplinary approach for CGD patients.
(© 2016 S. Karger AG, Basel.)
Databáze: MEDLINE
Externí odkaz:
Nepřihlášeným uživatelům se plný text nezobrazuje