Interchromosomal Insertional Translocation at Xq26.3 AltersSOX3Expression in an Individual With XX Male Sex Reversal

46 XX male: a case of sex reversal syndrome.

A case of sex reversal syndrome with sex-determining region (XX male).

We examined a 32-year-old man with a 4-year history of infertility. The man's sex life, male hair pattern, and penis were normal, and he had no history of erection problems. Left and right testicular volumes were 2 ml and 3 ml, respectively. Semen analysis showed no sperm. The endocrine panel revealed increased serum luteinizing hormone and follicle-stimulating hormone levels, and a normal seru...

Identification of SOX3 as an XX male sex reversal gene in mice and humans.

Sex in mammals is genetically determined and is defined at the cellular level by sex chromosome complement (XY males and XX females). The Y chromosome-linked gene sex-determining region Y (SRY) is believed to be the master initiator of male sex determination in almost all eutherian and metatherian mammals, functioning to upregulate expression of its direct target gene Sry-related HMG box-contai...

XX male sex reversal with genital abnormalities associated with a de novo SOX3 gene duplication.

Differentiation of the bipotential gonad into testis is initiated by the Y chromosome-linked gene SRY (Sex-determining Region Y) through upregulation of its autosomal direct target gene SOX9 (Sry-related HMG box-containing gene 9). Sequence and chromosome homology studies have shown that SRY most probably evolved from SOX3, which in humans is located at Xq27.1. Mutations causing SOX3 loss-of-fu...

The etiology of XX sex reversal.

The primary testis-determining function is exerted by a gene in the sex-determining region of the human Y chromosome. This gene is termed the sex-determining factor or TDF. A zinc finger gene, ZFY, residing in this region has been cloned and characterized. It is a candidate for TDF. A challenge to future molecular research is to clarify the function of a zinc finger gene on the X chromosome, ZF...