BACKGROUND Infertility is a major issue in human reproductive health, affecting an
estimated 15% of couples worldwide. Infertility can result from disorders of sex development …

About 10% of women of reproductive age are unable to conceive or carry a pregnancy to
term. Female factors alone account for at least 35% of all infertility cases and comprise a …

The differential diagnosis of differences or disorders of sex development (DSD) belongs to
the most complex fields in medicine. It requires a multidisciplinary team conducting a …

In 46, XY men, testis is determined by a genetic network (s) that both promotes testis
formation and represses ovarian development. Disruption of this process results in a lack of …

SOX8 was linked in a genome-wide association study to human height heritability, but roles
in chondrocytes for this close relative of the master chondrogenic transcription factor SOX9 …

In this review, the elements included in both sex determination and sex differentiation are
briefly analyzed, exposing the pathophysiological and clinical classification of disorders or …

Purpose XY individuals with disorders/differences of sex development (DSD) are
characterized by reduced androgenization caused, in some children, by gonadal …

Disorders (or differences) of sex development (DSD) are a heterogeneous group of
congenital conditions with variations in chromosomal, gonadal, or anatomical sex. Impaired …

The SRY-related (SOX) transcription factor family pivotally contributes to determining cell
fate and identity in many lineages. Since the original discovery that SRY deletions cause sex …

SOX genesare master regulatory genes controlling development and are fundamental to the
establishment of sex determination in a multitude of organisms. The discovery of the master …