[Resistance to thyroid hormone - goiter and attention deficit-hyperactivity disorder as main manifestation].
METHODS
Two siblings with goiter and attention deficit-hyperactivity disorder were presented. Earlier laboratory tests showed increased serum levels of thyroid hormones in association with non-suppressed serum levels of thyrotropin (TSH) in both children. Because hyperthyroidism caused by inappropriate secretion of thyrotropin was suspected, a cerebral MRI was performed. A pituitary adenoma was excluded in both children. Before antithyroid drug treatment was initiated, both patients were referred to our hospital. Careful medical history, clinical examination of the patients and careful interpretation of the laboratory results finally led to the diagnosis resistance to thyroid hormone (RTH).


METHODS
Thyroid hormone serum levels were elevated in both children, while serum TSH was within the normal range. Molecular analysis confirmed the diagnosis of RTH.


RESULTS
Thyrostatic treatment was not initiated.


CONCLUSIONS
Careful medical history, correct interpretation of laboratory results, comprehensive clinical examination and molecular genetic analysis are important in the diagnosis of RTH.
Rohrer
T
T
Klinik mit Poliklinik für Kinder und Jugendliche, Pädiatrische Endokrinologie, Universität Erlangen-Nürnberg, Germany.
Gassmann
K
K
Pohlenz
J
J
Dörr
H G
HG
D001289:Attention Deficit Disorder with Hyperactivity / Q000175:diagnosis / Q000235:genetics*; D002648:Child; D003937:Diagnosis, Differential; D005260:Female; D018776:Genes, erbA / Q000235:genetics; D006580:Genetic Carrier Screening; D006042:Goiter / Q000175:diagnosis / Q000235:genetics; D006801:Humans; D008297:Male; D017354:Point Mutation / Q000235:genetics; D018382:Thyroid Hormone Resistance Syndrome / Q000175:diagnosis / Q000235:genetics*; D013972:Thyrotropin / Q000097:blood
D013972:Thyrotropin
"Familiäre Schilddrüsenhormonresistenz" - Struma und Hyperaktivitätssyndrom als Leitsymptome.