46,XY complete gonadal dysgenesis in a familial case with a rare mutation in the desert hedgehog (DHH) gene

• Published in: Hormones (Athens, Greece) Vol. 18; no. 3; pp. 315 - 320
• Main Authors: Neocleous, Vassos, Fanis, Pavlos, Cinarli, Feride, Kokotsis, Vasilis, Oulas, Anastasios, Toumba, Meropi, Spyrou, George M., Phylactou, Leonidas A., Skordis, Nicos
• Format: Journal Article
• Language: English
• Published: Cham Springer International Publishing 01.09.2019
• Subjects: Adult; Amenorrhea - genetics; Case Report; Consanguinity; Endocrinology; Family; Female; Gene Frequency; Gonadal Dysgenesis, 46,XY - diagnosis; Gonadal Dysgenesis, 46,XY - genetics; Hedgehog Proteins - genetics; Humans; Iraq; Medicine; Medicine & Public Health; Metabolic Diseases; Mutation, Missense; Pedigree; Young Adult; Iraq; Gonadal dysgenesis; Desert hedgehog; DHH gene; 46XY; Primary amenorrhea

Purpose Disorders of sex development (DSD) have been linked to gene defects that lead to gonadal dysgenesis. Herein, we aimed to identify the genetic cause of gonadal dysgenesis in a patient with primary amenorrhoea tracing it to a phenotypic female carrying a 46,XY karyotype of a consanguineous fam...