The principle steroidal androgens are testosterone and its metabolite 5α-
dihydrotestosterone (DHT), which is converted from testosterone by the enzyme 5α …

Congenital hyperinsulinism (CHI) is a condition characterised by severe and recurrent
hypoglycaemia in infants and young children caused by inappropriate insulin over …

Background: In adolescents, testosterone may have several effects including promotion of
secondary sexual characteristics and pubertal growth, attainment of optimal muscle mass …

Aims Hypogonadism is associated with cardiovascular disease. However, the
cardiovascular impact of hypogonadism during development is unknown. Using …

Background: Complete and partial androgen insensitivity syndrome (CAIS, PAIS) are
associated with an increased risk of gonadal germ cell cancer (GGCC). Recent guidelines …

Disorders of sex development (DSD) are a group of rare conditions that usually present with
atypical genitalia in the newborn period or as delayed puberty in an adolescent. Although a …

The commitment of the embryonic gonad towards the male or female fate is a sequential and
complex developmental process. The sex-independent growth and development of the …

Summary Background Steroidogenic factor 1 (SF-1/NR5A1) is essential for human sex
development. Heterozygous NR5A1/SF-1 variants manifest with a broad range of …

Context Larger studies on outcomes in males with 45, X/46, XY mosaicism are rare.
Objective To compare health outcomes in males with 45, X/46, XY diagnosed as a result of …

Androgens, including testosterone and its more potent metabolite dihydrotestosterone, exert
multiple actions in the body. Physiologically, they play a critical role in male sex …