GnRH receptor mutations in isolated gonadotropic deficiency.

  title={GnRH receptor mutations in isolated gonadotropic deficiency.},
  author={Lucie Chevrier and Fabien Guimiot and Nicolas de Roux},
  journal={Molecular and cellular endocrinology},
  volume={346 1-2},
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 maturation of gonads in fetal life as well as after birth. Congenital functional defect of this axis results in isolated hypogonadotropic hypogonadism (IHH). Several natural mutations causing IHH without anosmia have now been identified in GnRHR or GnRH genes. These mutations inactivate GnRHR or its ligand function and cause… CONTINUE READING


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