The process of sexual differentiation is central for reproduction of almost all metazoan, and
therefore, for maintenance of practically all multicellular organisms. In sex development, we …

Sexual differentiation is the result of complex genetic and endocrine mechanisms that are
closely associated with the development of both the genitourinary system and the adrenal …

Aetiology of mixed gonadal dysgenesis (MGD) has not been completely elucidated.
Molecular analyses have failed to demonstrate the presence of mutations in sex-determining …

True hermaphroditism (TH) refers to individuals who have both unequivocal ovarian tissue
and testicular elements regardless of their karyotypes; whereas mixed gonadal dysgenesis …

One of the most challenging areas in pediatric testicular pathology is the appropriate
understanding and pathological diagnosis of disorders of sexual development (DSD), and in …

Objective The frequency of Y-chromosome material is high in Turner syndrome (TS), but the
ocurrence of gonadoblastoma seems to be low. We performed a study to evaluate whether …

Isodicentric chromosome formation is the most common structural abnormality of the Y
chromosome. As dicentrics are mitotically unstable, they are subsequently lost during cell …

A higher incidence of Y-chromosome microdeletions was found on gonadal DNA than on
peripheral blood lymphocyte DNA and on streak gonads than on dysgenetic testis in 11 …

Context Molecular mechanisms causing the broad phenotypic diversity of external
masculinization in individuals with 45, X/46, XY mosaicism are poorly understood. Objective …

Objective: To investigate the presence of mutations in the open reading frame (ORF), as well
as on the 5′ and 3′, flanking regions of the SRY gene in patients with mixed gonadal …