Endocrine and neuropsychological assessment in a child with a novel mutation of thyroid hormone receptor: response to 12-month triiodothyroacetic acid (TRIAC) therapy.
OBJECTIVE
To determine the endocrine, neuropsychological and genetic features of a child with resistance to thyroid hormone (RTH), and his response to long-term triiodothyroacetic acid (TRIAC) therapy.


METHODS
Growth, thyroid function, and neuropsychology were assessed at baseline and during 12-month TRIAC therapy. Genetic analysis was performed by PCR and denaturing high performance liquid chromatography.


RESULTS
The main clinical finding was the attention deficit-hyperactivity disorder (ADHD). A novel mutation in exon 10 (phenylalanine to isoleucine in codon 455) was found. Long-term TRIAC therapy was effective in the management of the endocrine and neuropsychological manifestations of the syndrome.


CONCLUSIONS
ADHD was the only phenotypic manifestation of this novel mutation of thyroid hormone (TH) receptor. TRIAC is an effective and safe drug in the long-term treatment of children with RTH.
Torre
P
P
Rina Balducci Center of Pediatric Endocrinology, Department of Public Health and Cell Biology; Tor Vergata University, Rome, Italy.
Bertoli
M
M
Di Giovanni
S
S
Scommegna
S
S
Conte
C
C
Novelli
G
G
Cianfarani
S
S
D002648:Child; D004252:DNA Mutational Analysis; D004703:Endocrine System / Q000502:physiology*; D006801:Humans; D007223:Infant; D009154:Mutation; D009483:Neuropsychological Tests; D010375:Pedigree; D011988:Receptors, Thyroid Hormone / Q000235:genetics*; D013577:Syndrome; D013960:Thyroid Function Tests; D018382:Thyroid Hormone Resistance Syndrome / Q000188:drug therapy / Q000235:genetics / Q000503:physiopathology; D014284:Triiodothyronine / Q000031:analogs & derivatives* / Q000627:therapeutic use
D011988:Receptors, Thyroid Hormone; D014284:Triiodothyronine; C010642:3,3',5-triiodothyroacetic acid