Identification and Functional Analysis of a New WNT4 Gene Mutation among 28 Adolescent Girls with Primary Amenorrhea and Müllerian Duct Abnormalities: A French Collaborative Study | Zendy

Pascal Philibert | Zendy; Anna BiasonLauber | Zendy; Roman Rouzier | Zendy; Catherine Pienkowski | Zendy; Françoise Paris | Zendy; Daniel Konrad | Zendy; Eugene Schoenle | Zendy; Charles Sultan | Zendy

Open Access

Identification and Functional Analysis of a New WNT4 Gene Mutation among 28 Adolescent Girls with Primary Amenorrhea and Müllerian Duct Abnormalities: A French Collaborative Study

Author(s) -

Pascal Philibert,

Anna BiasonLauber,

Roman Rouzier,

Catherine Pienkowski,

Françoise Paris,

Daniel Konrad,

Eugene Schoenle,

Charles Sultan

Publication year - 2008

Publication title -

the journal of clinical endocrinology and metabolism

Language(s) - English

Resource type - Journals

SCImago Journal Rank - 2.206

H-Index - 353

eISSN - 1945-7197

pISSN - 0021-972X

DOI - 10.1210/jc.2007-2023

Subject(s) - hyperandrogenism , endocrinology , medicine , biology , polycystic ovary , wnt4 , cyproterone acetate , anti müllerian hormone , androgen , androgen insensitivity syndrome , genetics , hormone , insulin resistance , gene , gene expression , androgen receptor , insulin , prostate cancer , cancer

Müllerian duct development depends on gene and hormone interactions. Female Wnt4-knockout mice lack müllerian ducts and are virilized due to the inappropriate expression of the enzymes required for androgen production (normally repressed in female ovary). The WNT4 mutation was recently reported to be associated with failure of müllerian duct formation and virilization in two 46, XX women.

The content you want is available to Zendy users.

Already have an account? Click here to sign in.

Having issues? You can contact us here

Accelerating Research