BACKGROUND Human male infertility has a notable genetic component, including well-
established diagnoses such as Klinefelter syndrome, Y-chromosome microdeletions and …

Azoospermia affects 1% of men, and it can be due to:(i) hypothalamic-pituitary
dysfunction,(ii) primary quantitative spermatogenic disturbances,(iii) urogenital duct …

Male hypogonadism (MH) is a common endocrine disorder. However, uncertainties and
variations in its diagnosis and management exist. There are several current guidelines on …

Approximately 7% of men suffer from fertility problems, the etiology of which are ascribable
to a number of factors acting at pretesticular, posttesticular, or testicular levels. About 20% of …

Identifying the genes causing male infertility is important to increase our biological
understanding as well as the diagnostic yield and clinical relevance of genetic testing in this …

Abstract An Endo-European Reference Network guideline initiative was launched including
16 clinicians experienced in endocrinology, pediatric and adult and 2 patient …

Delayed puberty (DP) defines a retardation of onset/progression of sexual maturation
beyond the expected age from either a lack/delay of the hypothalamo-pituitary-gonadal axis …

BACKGROUND Our genetic code is now readable, writable and hackable. The recent
escalation of genome-wide sequencing (GS) applications in population diagnostics will not …

Reproductive function depends upon an operational hypothalamo–pituitary–gonadal (HPG)
axis. Due to its role in determining survival versus reproductive strategies, the HPG axis is …

Pubertal timing varies considerably and is associated with later health outcomes. We
performed multi-ancestry genetic analyses on~ 800,000 women, identifying 1,080 signals for …