title: Hypothyroidism in siblings due to a homozygous mutation of the TSH-beta subunit gene.
abstract: We report two American sisters of Scottish-Irish ancestry with isolated thyrotropin (TSH) deficiency. The diagnosis of central congenital hypothyroidism was based on low levels of TSH and free thyroxine. Sequencing of the TSH-beta subunit gene revealed a homozygous single nucleotide deletion in codon 105, producing a frame shift and resulting in inactive TSH. This mutation has previously been reported in a Brazilian family, two German families, and a Belgian family. Our case, along with a review of the other reports, supports the theory that this mutation may be a common cause of isolated TSH deficiency.
authors.affiliation: Department of Pediatrics, Division of Endocrinology, Tulane University School of Medicine, New Orleans, LA, USA. eric_felner@oz.ped.emory.edu
authors.forename: Eric I
authors.initials: EI
authors.lastname: Felner
authors.forename: Bryan A
authors.initials: BA
authors.lastname: Dickson
authors.forename: Perrin C
authors.initials: PC
authors.lastname: White
mesh_terms: D003409:Congenital Hypothyroidism; D005260:Female; D016368:Frameshift Mutation; D006720:Homozygote; D006801:Humans; D007037:Hypothyroidism / Q000235:genetics*; D007231:Infant, Newborn; D010375:Pedigree; D037322:Thyrotropin, beta Subunit / Q000235:genetics*
chemical_list: D037322:Thyrotropin, beta Subunit