title: A familial case of congenital hypothyroidism caused by a homozygous mutation of the thyrotropin receptor gene.
abstract: Most of the time congenital hypothyroidism appears as a sporadic disease. In addition to the rare defects in hormonosynthesis associated with goiters, the causes of congenital hypothyroidism include agenesis and ectopy of the thyroid gland. The study of some familial cases has allowed the identification of a few genes responsible for congenital hypothyroidism. We report here a familial case of congenital hypothyroidism, transmitted as a recessive trait, and caused by a homozygous mutation in the thyrotropin receptor (TSH-R). The initial diagnosis of thyroid agenesis, based on the absence of tracer uptake on scintiscan, was incorrect, because ultrasound examination identified severely hypoplastic thyroid tissue in the cervical region.
authors.affiliation: Department of Pediatry, Hôpital Lyon-Sud, France.
authors.forename: P
authors.initials: P
authors.lastname: Bretones
authors.forename: L
authors.initials: L
authors.lastname: Duprez
authors.forename: J
authors.initials: J
authors.lastname: Parma
authors.forename: M
authors.initials: M
authors.lastname: David
authors.forename: G
authors.initials: G
authors.lastname: Vassart
authors.forename: P
authors.initials: P
authors.lastname: Rodien
mesh_terms: D003409:Congenital Hypothyroidism; D003241:Consanguinity; D005260:Female; D005808:Genes, Recessive; D006720:Homozygote; D006801:Humans; D007037:Hypothyroidism / Q000235:genetics*; D007231:Infant, Newborn; D008297:Male; D009154:Mutation; D010375:Pedigree; D011989:Receptors, Thyrotropin / Q000235:genetics*; D013961:Thyroid Gland / Q000002:abnormalities / Q000000981:diagnostic imaging; D014463:Ultrasonography
chemical_list: D011989:Receptors, Thyrotropin