Candidate genes of empty sella

Abstract

Empty sella (ES) is a condition characterized by arachnoid herniation into the sellar fossa which leads to flattening of the pituitary gland against the sellar floor. Besides endocrine disturbances, patients with ESS may also have neuropsychiatric symptoms such as headache, dizziness, seizures, schizophrenia. Typically, ES is not inherited. However, due to the advent of new methods of brain imaging and molecular genetics, the perspective on the genetics of ESS has been changing. The aim of this study is to analyze genome-wide association studies of candidate genes related to the development of ESS in humans. Based on the available studies which have been analyzed, all candidate genes of ESS were divided into 4 groups: group 1 - candidate genes related to ESS, group 2 - candidate genes related to pathways of ESS, group 3 - candidate genes related to cellular components of ESS, group 4 - candidate genes related to biological processes of ESS.

A clinical case of identical twins with hypogonadotropic hypogonadism, primary empty sella syndrome and identified rare CHD7 gene variant

“…Sharavii et al studied all candidate genes related to the development of ESS in humans and divided them into four groups: Group 1-genes, related to the development of ESS (the most significant are the PRL gene coding for prolactin, the GH1 gene coding for growth hormone, the POMC gene coding for proopiomelanocortin, the TRH gene coding for thyrotropin releasing hormone, the IGF1 gene coding for insulin like growth factor 1); Group 2-candidate genes related to pathways of ESS (TRH, PRL, POMC, NPY, GNRH1, GH1 genes coding for peptide-ligand building receptors); Group 3-candidate genes related to cellular components of ESS (PRL, POMC, NPY, IGFBP3, IGF1); Group 4-candidate genes related to biological processes of ESS (TRH, POMC, NPY, INS, GNRH1) which participate in the regulation of biological processes associated with the G protein-coupled receptors signaling pathway. 2 Only a few cases of familial ESS are described in the literature. White et al reported a case of three sisters, born of a consanguineous marriage.…”