INSERM U676, Avenir Team: Genetic and Physiology of Puberty Onset, Robert Debre Hospital, 48 Boulevard Serurier, 75019 Paris, France.
Mol Cell Endocrinol. 2011 Oct 22;346(1-2):21-8. doi: 10.1016/j.mce.2011.04.018. Epub 2011 Apr 30.
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 highly variable phenotypes, ranging from partial to complete gonadotropic deficiencies. The present review describes the published natural GnRHR mutations and tries to correlate them with the corresponding phenotypes according to the different steps of the GnRH system development.
促性腺激素释放激素（GnRH）及其受体 GnRHR 是下丘脑-垂体轴的关键调节因子。它们调节 LH 和 FSH 促性腺激素的分泌，因此在胎儿期和出生后调节性腺的发育和成熟。该轴的先天性功能缺陷导致孤立性促性腺激素低下性性腺功能减退症（IHH）。现已在 GnRHR 或 GnRH 基因中发现了几种导致无嗅觉的 IHH 的天然突变。这些突变使 GnRHR 或其配体功能失活，并导致表型高度可变，从部分到完全促性腺激素缺乏不等。本综述描述了已发表的天然 GnRHR 突变，并根据 GnRH 系统发育的不同步骤尝试将其与相应的表型相关联。
