GnRH receptor mutations in isolated gonadotropic deficiency

被引：55
作者：
Chevrier, L. [1 ,2 ]
Guimiot, F. [1 ,2 ,3 ]
de Roux, N. [1 ,2 ,4 ]
机构：
[1] Robert Debre Hosp, Avenir Team Genet & Physiol Puberty Onset, INSERM, U676, F-75019 Paris, France
[2] Univ Paris 07, Paris, France
[3] Robert Debre Hosp, Assistance Publ Hop Paris, Dept Dev Biol, F-75019 Paris, France
[4] Robert Debre Hosp, Assistance Publ Hop Paris, Dept Biochem, F-75019 Paris, France
来源：
MOLECULAR AND CELLULAR ENDOCRINOLOGY | 2011年 / 346卷 / 1-2期
关键词：
Hypothalamo-pituitary axis; GnRH receptor mutations; Intracellular trafficking; Variable phenotype; IDIOPATHIC HYPOGONADOTROPIC HYPOGONADISM; PROTEIN-COUPLED RECEPTOR; PLASMA-MEMBRANE EXPRESSION; HORMONE RECEPTOR; MOLECULAR-BASIS; ENDOPLASMIC-RETICULUM; RETINITIS-PIGMENTOSA; HOMOZYGOUS MUTATION; LUTEINIZING-HORMONE; KALLMANNS-SYNDROME;
D O I：
10.1016/j.mce.2011.04.018
中图分类号：
Q2 [细胞生物学];
学科分类号：
071009 ; 090102 ;
摘要：
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. (C) 2011 Elsevier Ireland Ltd. All rights reserved.
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页码：21 / 28
页数：8
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