[Molecular genetics and phenotypic features of congenital isolated hypogonadotropic hypogonadism].

ABSTRACT: Congenital isolated hypogonadotropic hypogonadism includes a group of diseases related to the defects of secretion and action of gonadotropin-releasing hormone (GNRH) and gonadotropins. In a half of cases congenital hypogonadism is associated with an impaired sense of smell. It's named Kallmann syndrome. Now 40 genes are known to be associated with function of hypothalamus pituitary gland and gonads. Phenotypic features of hypogonadism and therapy effectiveness are related to different molecular defects. However clinical signs may vary even within the same family with the same molecular genetic defect. Genotype phenotype correlation in patients with congenital malformations prioritizes the search for mutations in candidate genes. There are data of significant contribution of oligogenicity

SUBMITTER: Kokoreva KD 

PROVIDER: S-EPMC9112933 | biostudies-literature | 2021 Aug

REPOSITORIES: biostudies-literature