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

GnRH and its receptor GnRHR are key regulators of the hypothalamo–pituitary axis. They
modulate the secretion of LH and FSH gonadotropins and therefore, the development and …

Context: GnRH deficiency is a rare genetic disorder of absent or partial pubertal
development. The clinical and genetic characteristics of GnRH-deficient women have not …

OBJECTIVE: To determine the prevalence of digenic mutations in patients with idiopathic
hypogonadotropic hypogonadism (IHH) and Kallmann syndrome (KS). DESIGN: Molecular …

Context TAC3/TACR3 mutations have been reported in normosmic congenital
hypogonadotropic hypogonadism (nCHH)(OMIM# 146110). In the absence of animal …

Developmentally, the fetal GnRH pulse generator and its activation of the downstream
gonadotrope and gonadal axis in humans is fully operational in both sexes by the end of the …

Context: KISS1 is a candidate gene for GnRH deficiency. Objective: Our objective was to
identify deleterious mutations in KISS1. Patients and Methods: DNA sequencing and …

Kisspeptin, which is the product of the kiss1 gene and its receptor kiss1r, have emerged as
the essential gatekeepers of reproduction. The present study used gonadally intact female …

Estrogens have pronounced effects on thermoregulation, as illustrated by the occurrence of
hot flushes secondary to estrogen withdrawal in menopausal women. Because neurokinin B …

Human puberty is triggered by the reemergence of GnRH pulsatile secretion with
progressive activation of the gonadal function. A number of genes have been identified in …