Production of sperm and androgens is the main function of the testis. This depends on
normal development of both testicular somatic cells and germ cells. A genetic program …

Highlights•Sex development depends on spatio-temporal sequence & coordination of
mutually antagonistic activating & repressing factors.•Disorders of sex development can be …

Sex in mammals is determined in the fetal gonad by the presence or absence of the Y
chromosome gene Sry, which controls whether bipotential precursor cells differentiate into …

Most animals reproduce sexually, but the genetic and molecular mechanisms that determine
the eventual sex of each embryo vary remarkably. DM domain genes, which are related to …

Importance The 16p11. 2 BP4-BP5 duplication is the copy number variant most frequently
associated with autism spectrum disorder (ASD), schizophrenia, and comorbidities such as …

Despite being collectively among the most frequent congenital developmental conditions
worldwide, differences of sex development (DSD) lack recognition and research funding. As …

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 …

BACKGROUND Hypospadias is a common congenital malformation of the male external
genitalia. Most cases have an unknown aetiology, which is probably a mix of monogenic …

Clinical infertility is the inability of a couple to conceive after 12 months of trying. Male factors
are estimated to contribute to 30–50% of cases of infertility. Infertility or reduced fertility can …

It is estimated that one in 100 men have azoospermia, the complete lack of sperm in the
ejaculate. Currently,~ 20% of azoospermia cases remain idiopathic. Non-obstructive …