The 46, XX male disorder of sex development (DSD) is rarely observed in humans. Patients
with DSD are all male with testicular tissue differentiation. The mechanism of sex …

Disorders of Sex Development (DSD) are a heterogeneous group of disorders affecting
gonad and/or genito‐urinary tract development and usually the endocrine‐reproductive …

Background SOX9 mutations cause the skeletal malformation syndrome campomelic
dysplasia in combination with XY sex reversal. Studies in mice indicate that SOX9 acts as a …

Research question The purpose of the present study was to investigate whether ten
unrelated SRY-negative individuals with this sex differentiation disorder presented a double …

Despite the identification of an increasing number of genes involved in sex determination
and differentiation, no cause can be attributed to most cases of 46, XY gonadal dysgenesis …

Individuals with rare cytogenetic variants have contributed to our understanding of the
genetics of sex development and its disorders. Here, we report on a child with a de novo 12; …

Background: Translocation of the SRY gene to the paternal X chromosome is the
explanation for testis development in the majority of subjects with 46, XX testicular disorder …

The 46, XX male disorder of sex development (DSD) is a rare genetic condition. Here, we
report the case of a 46, XX SRY-negative male with complete masculinization. The coding …

Background The early gonad is bipotential and can differentiate into either a testis or an
ovary. In XY embryos, the SRY gene triggers testicular differentiation and subsequent male …

Background 46, XX testicular disorder of sex development is a rare genetic syndrome,
characterized by a complete or partial mismatch between genetic sex and phenotypic sex …