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

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 …

The diagnosis and management of children born with ambiguous genitalia is challenging for
clinicians. Such differences of sex development (DSDs) are congenital conditions in which …

Puberty, which in humans is considered to include both gonadarche and adrenarche, is the
period of becoming capable of reproducing sexually and is recognized by maturation of the …

Typical sex development relies on very complex biological events, which involve specific
interactions of a large number of genes and pathways in a defined spatiotemporal …

The care of individuals with disorders/differences of sex development aims to enable
affected individuals and their families to have the best quality of life, particularly those born …

The initial management of the neonate with ambiguous genitalia can be a very stressful and
anxious time for families, as well as for the general practitioner or neonatologist. A timely …

Gonadal sex determination is a complex genetic process by which an embryonic primordium
is driven to form an ovary or a testis, which requires a delicate dosage balance involving …

Chromosomal abnormalities are the main genetic risk factor associated with reproductive
and sexual development disorders (DSD). The goal of this study is to retrospectively …

Disorders of sex development (DSDs) comprise a spectrum of disorders in which
chromosomal, genetic, gonadal, hormonal, or anatomic aspects of sex are atypical …