Three cases of rare SRY-negative 46,XX testicular disorder of sexual development with complete masculinization and a review of the literature | Zendy

Bom Yi Lee | Zendy; Shin Young Lee | Zendy; Yeon Woo Lee | Zendy; Shin Young Kim | Zendy; Jin Woo Kim | Zendy; Hyun Mee Ryu | Zendy; Joong Shik Lee | Zendy; So Yeon Park | Zendy; Ju Tae Seo | Zendy

Open Access

Three cases of rare SRY-negative 46,XX testicular disorder of sexual development with complete masculinization and a review of the literature

Author(s) -

Bom Yi Lee,

Shin Young Lee,

Yeon Woo Lee,

Shin Young Kim,

Jin Woo Kim,

Hyun Mee Ryu,

Joong Shik Lee,

So Yeon Park,

Ju Tae Seo

Publication year - 2016

Publication title -

journal of genetic medicine

Language(s) - English

Resource type - Journals

eISSN - 2233-9108

pISSN - 1226-1769

DOI - 10.5734/jgm.2016.13.2.78

Subject(s) - testis determining factor , disorders of sex development , sex reversal , medicine , gynecology , biology , genetics , y chromosome , gene

Müllerian inhibiting factor that induces regression of Müllerian ducts that in females would differentiate into the uterus. These processes for sex determination do not occur in females in the absence of SRY. Sex differentiation related genes such as SOX9, FGF9, DAX1, WT1, RSPO1, and SOX10, which are located on either autosomes or the X chromosome, may have a role in gonad development and function. These genes were studied in Three cases of rare SRY-negative 46,XX testicular disorder of sexual development with complete masculinization and a review of the literature

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