Genetics of Hypogonadotropic Hypogonadism.

A. Topaloğlu, L. D. Kotan
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引用次数: 31

Abstract

Hypogonadotropic hypogonadism (HH) often manifests as pubertal delay. A considerable proportion of cases of HH is due to genetic mutations. Recognizing those mutated genes and associated phenotypes may improve our diagnostic capabilities. GNRHR and TACR3 should be the first two genes to be screened in a clinical setting for equivocal cases such as constitutional delay in puberty versus idiopathic HH. In Kallmann syndrome (KS), according to the presence of certain accompanying clinical features, genetic screening for particular gene(s) may be prioritized: synkinesia (KAL1), dental agenesis (FGF8/FGFR1), bony anomalies (FGF8/FGFR1), and hearing loss (CHD7, SOX10). FEZF1 has recently been added to the growing list of KS genes. Also, discovery of mutations in KISS1/KISS1R and TAC3/TACR3 in kisspeptin and neurokinin B signaling, respectively, has provided major advancements in our understanding of the biology of the gonadotropin-releasing hormone pulse generator. Identification of further causative mutations accounting for the HH phenotype, which is now more feasible with the increasing popularity of whole exome sequencing, may provide deeper insight into the biology of the hypothalamic-pituitary-gonadal axis.
促性腺功能减退症的遗传学。
促性腺功能减退症(HH)通常表现为青春期发育迟缓。相当比例的HH病例是由基因突变引起的。识别这些突变基因和相关表型可以提高我们的诊断能力。GNRHR和TACR3应该是在临床环境中筛选的两个基因,如青春期体质延迟与特发性HH。在Kallmann综合征(KS)中,根据某些伴随临床特征的存在,可以优先进行特定基因的遗传筛查:联动症(KAL1),牙齿发育不全(FGF8/FGFR1),骨骼异常(FGF8/FGFR1)和听力损失(CHD7, SOX10)。FEZF1最近被添加到不断增长的KS基因列表中。此外,kisspeptin和neurokinin B信号通路中分别发现了KISS1/KISS1R和TAC3/TACR3突变,这为我们对促性腺激素释放激素脉冲发生器的生物学理解提供了重大进展。随着全外显子组测序的日益普及,进一步鉴定HH表型的致病突变变得更加可行,这可能为下丘脑-垂体-性腺轴的生物学提供更深入的见解。
本文章由计算机程序翻译,如有差异,请以英文原文为准。
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