title: A Novel SRY Gene Mutation p.F109L in a 46,XY Female with Complete Gonadal Dysgenesis.
abstract: 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.
authors.affiliation: National Genetic Laboratory - UHOG x2018;Maichin dom', Sofia, Bulgaria.
authors.forename: Silvia
authors.initials: S
authors.lastname: Andonova
authors.forename: Ralitsa
authors.initials: R
authors.lastname: Robeva
authors.forename: Milko
authors.initials: M
authors.lastname: Sirakov
authors.forename: Karela
authors.initials: K
authors.lastname: Mainhard
authors.forename: Analia
authors.initials: A
authors.lastname: Tomova
authors.forename: Susanne
authors.initials: S
authors.lastname: Ledig
authors.forename: Philip
authors.initials: P
authors.lastname: Kumanov
authors.forename: Alexey
authors.initials: A
authors.lastname: Savov
mesh_terms: D000293:Adolescent; D019943:Amino Acid Substitution; D001483:Base Sequence; D004252:DNA Mutational Analysis; D004407:Dysgerminoma / Q000235:genetics / Q000473:pathology; D005260:Female; D024282:Genes, sry; D006061:Gonadal Dysgenesis, 46,XY / Q000235:genetics* / Q000473:pathology; D018238:Gonadoblastoma / Q000235:genetics / Q000473:pathology; D006801:Humans; D020125:Mutation, Missense; D010051:Ovarian Neoplasms / Q000235:genetics / Q000473:pathology; D051876:Sex-Determining Region Y Protein / Q000235:genetics
chemical_list: C497745:SRY protein, human; D051876:Sex-Determining Region Y Protein