title: Congenital hypothyroidism and partial thyroid hormone unresponsiveness of the pituitary in a patient with congenital thyroxine binding albumin elevation.
abstract: We describe a girl who presented at the age of 6 weeks with cardiogenic shock due to congenital hypothyroidism (serum thyroxine (T4) less than 12 nmol/l). Thyroxine replacement therapy was instituted. In spite of high total serum T4 levels, thyroid stimulating hormone (TSH) serum values remained elevated. The raised serum T4 levels were the result of congenital elevation of thyroid binding albumin (TBA). Toxic doses of both T4 and triiodothyronine (T3) normalized the elevated TSH levels indicating that the pituitary is responsive to thyroid hormone, albeit at a higher threshold. In patients with congenital TBA elevation and an altered T4 pituitary response requiring thyroid replacement therapy, the measurement of serum free T4 levels is the parameter of choice to monitor treatment.
authors.affiliation: Department of Paediatrics, Sophia Children's Hospital, Rotterdam, The Netherlands.
authors.forename: S L
authors.initials: SL
authors.lastname: Drop
authors.forename: E P
authors.initials: EP
authors.lastname: Krenning
authors.forename: R
authors.initials: R
authors.lastname: Docter
authors.forename: S M
authors.initials: SM
authors.lastname: de Muinck Keizer-Schrama
authors.forename: T J
authors.initials: TJ
authors.lastname: Visser
authors.forename: G
authors.initials: G
authors.lastname: Hennemann
mesh_terms: D003409:Congenital Hypothyroidism; D005260:Female; D006801:Humans; D007037:Hypothyroidism / Q000097:blood / Q000188:drug therapy; D007223:Infant; D013960:Thyroid Function Tests; D013972:Thyrotropin / Q000097:blood; D013974:Thyroxine / Q000097:blood / Q000627:therapeutic use; D013975:Thyroxine-Binding Proteins / Q000378:metabolism*; D014284:Triiodothyronine / Q000627:therapeutic use
chemical_list: D013975:Thyroxine-Binding Proteins; D014284:Triiodothyronine; D013972:Thyrotropin; D013974:Thyroxine