Work

Isolated GNRH deficiency: genotypic and phenotypic characteristics of the genetically heterogeneous Greek population

Year: 2016

Type: article

Abstract: Isolated gonadotropin-releasing hormone (GNRH) deficiency (IGD) is a rare highly heterogeneous disorder characterized by abnormal pubertal development and/or infertility and refers to a wide spectrum of different reproductive phenotypes, comprising GnRH deficiency with anosmia (Kallmann Syndrome, KS) and normosmic idiopathic hypogonadotrpic hypogonadism (nIHH) (2, 3), as well as a variety of non-reproductive phenotypes. This phenotypic heterogeneity is accompanied by a considerable genetic heterogeneity that has permitted >35 genes implicated in the pathogenesis of this disorder, with the genetic basis of IGD being uncovered in about 45% of patients. Several studies have estimated the prevalence of IGD genes in specific ethnic populations (1, 4, 5, 6, 7, 8) and geographically delimitated populations are enriched for specific genes that arise in the backbone of shared inherited haplotypes (4, 9, 10, 11, 12, 13, 30). With this letter, we would like to share our experience in harnessing the power of a large Greek population of IGD subjects, derived from different referral sources around Greece, to investigate the genetic basis of IGD and uncover the prevalence of gene variations in 14 major genetic players of IGD.

Source: European Journal of Endocrinology

DOI: 10.1530/eje-16-0505