Age at menarche (AAM) is an important marker of the pubertal development and function of
the hypothalamic–pituitary–ovarian system. It was reported as a possible factor for a risk of …

The pathophysiology of irritable bowel syndrome (IBS) is multifactorial and probably
involves genetic predisposition and the effect of environmental factors. Unlike other …

Understanding of the genetic regulation of puberty timing has come largely from studies of
rare disorders and population-based studies in women. Here, we report the largest genomic …

Idiopathic hypogonadotropic hypogonadism (IHH) is defined by absent or incomplete
puberty and characterised biochemically by low levels of sex steroids, with low or …

Context: Loss-of-function mutations in makorin ring finger 3 (MKRN3), an imprinted gene
located on the long arm of chromosome 15, have been recognized recently as a cause of …

Methods The PubMed database was searched using the following medical subject heading
terms and keywords: delayed puberty, adult height, BMD, fracture, depression, substance …

Because obesity is associated with diverse chronic diseases, little attention has been
directed to the multiple beneficial functions of adipose tissue. Adipose tissue not only …

Genome-wide association studies have identified numerous genetic loci for spirometic
measures of pulmonary function, forced expiratory volume in one second (FEV1), and its …

Puberty is a major developmental stage. Damaging mutations, considered as “mistakes of
nature”, have contributed to the unraveling of the networks implicated in the normal initiation …

Early or late pubertal onset affects up to 5% of adolescents and is associated with adverse
health and psychosocial outcomes. Self‐limited delayed puberty (DP) segregates …