Open AccessMolecular genetics and phenotypic features of congenital isolated hypogonadotropic hypogonadism
Author(s) -
Kristina Kokoreva,
Ігор Чугунов,
О. Б. Безлепкина
Publication year - 2021
Publication title -
problemy èndokrinologii
Language(s) - English
Resource type - Journals
eISSN - 2308-1430
pISSN - 0375-9660
DOI - 10.14341/probl12787
Subject(s) - hypogonadotropic hypogonadism , kallmann syndrome , phenotype , hypothalamic disease , endocrinology , medicine , mutation , genetics , biology , gene , disease , hormone , covid-19 , infectious disease (medical specialty)
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 into the phenotype of the disease are presented in the review. Moreover, an issue of current isolated hypogonadotropic hypogonadism definition and classification revision is raised in the review due to hypogonadotropic hypogonadism development while there are mutations in genes not associated with GNRH neurons secretion and function.