{"database":"biostudies-literature","file_versions":[],"scores":null,"additional":{"submitter":["Garcia M"],"funding":["NIDDK NIH HHS"],"pagination":["2433-2442"],"full_dataset_link":["https://www.ebi.ac.uk/biostudies/studies/S-EPMC5505191"],"repository":["biostudies-literature"],"omics_type":["Unknown"],"volume":["102(7)"],"pubmed_abstract":["<h4>Context</h4>Central congenital hypothyroidism (CCH) is an underdiagnosed disorder characterized by deficient production and bioactivity of thyroid-stimulating hormone (TSH) leading to low thyroid hormone synthesis. Thyrotropin-releasing hormone (TRH) receptor (TRHR) defects are rare recessive disorders usually associated with incidentally identified CCH and short stature in childhood.<h4>Objectives</h4>Clinical and genetic characterization of a consanguineous family of Roma origin with central hypothyroidism and identification of underlying molecular mechanisms.<h4>Design</h4>All family members were phenotyped with thyroid hormone profiles, pituitary magnetic resonance imaging, TRH tests, and dynamic tests for other pituitary hormones. Candidate TRH, TRHR, TSHB, and IGSF1 genes were sc"],"journal":["The Journal of clinical endocrinology and metabolism"],"pubmed_title":["Central Hypothyroidism Due to a TRHR Mutation Causing Impaired Ligand Affinity and Transactivation of Gq."],"pmcid":["PMC5505191"],"funding_grant_id":["R01 DK048823"],"pubmed_authors":["Jimenez-Roses M","Pardo L","Hinkle PM","Gonzalez de Buitrago J","Moreno JC","Garcia M"],"additional_accession":[]},"is_claimable":false,"name":"Central Hypothyroidism Due to a TRHR Mutation Causing Impaired Ligand Affinity and Transactivation of Gq.","description":"<h4>Context</h4>Central congenital hypothyroidism (CCH) is an underdiagnosed disorder characterized by deficient production and bioactivity of thyroid-stimulating hormone (TSH) leading to low thyroid hormone synthesis. Thyrotropin-releasing hormone (TRH) receptor (TRHR) defects are rare recessive disorders usually associated with incidentally identified CCH and short stature in childhood.<h4>Objectives</h4>Clinical and genetic characterization of a consanguineous family of Roma origin with central hypothyroidism and identification of underlying molecular mechanisms.<h4>Design</h4>All family members were phenotyped with thyroid hormone profiles, pituitary magnetic resonance imaging, TRH tests, and dynamic tests for other pituitary hormones. Candidate TRH, TRHR, TSHB, and IGSF1 genes were sc","dates":{"release":"2017-01-01T00:00:00Z","publication":"2017 Jul","modification":"2026-06-07T03:15:49.722Z","creation":"2019-03-26T23:44:03Z"},"accession":"S-EPMC5505191","cross_references":{"pubmed":["28419241"],"doi":["10.1210/jc.2016-3977"]}}