Neurocognitive studies of a kindred with resistance to thyroid hormone (rth) reveal abnormalities in language decoding skills. † 389

An asymptomatic 14 year-old girl with thyromegaly had elevated serum T4(19.9 mg/dl), but normal TSH (0.9 μU/ml). Despite elevated T3, and free T4, serum TSH increased normally after TRH

administration. Suppression of TRH-induced TSH release with 200 mg/day of L-T3 occurred as serum T3 rose to 788 ng/dl. Sequence analysis of her thyroid hormone β-receptor gene revealed a

mutation at nucleotide 1330 (GTG→ATG) resulting in a Val→Met change at position 349 in exon 9. To investigate attention deficit-like behavior described in RTH, 7 family members (4 affected)

were administered tests of ability, achievement, reading, language and attention (WISC-III, WAIS-R, Woodcock-Johnson Revised Achievement Subsets, Rosner Auditory Analysis). RTH subjects

appeared to have lower overall ability compared to unaffected relatives. RTH subjects manifested substantially impaired decoding skills, specifically letter word-identification and

word-attack compared to unaffected relatives. However, measures of attention were not different between RTH and unaffected relatives. Thus, in this kindred, RTH is associated with specific

impairments in language decoding, but not primary attention deficit. AUTHOR INFORMATION AUTHORS AND AFFILIATIONS * Dept. of Pediatrics, Yale U. Sch. of Med., New Haven, CT, USA, Dept. of

Geriatrics, Endocrinology and Metabolism, Shinshu U. Sch. of Med., Matsumoto, Japan, Depts. of Medicine and Pediatrics, U. of Chicago Medical Center, Chicago, IL, USA Rubina Heptulla, Karen

E. Marchione, Sally E. Shaywitz, Bennett A. Shaywitz, Akhiro Sakurai, Samuel Refetoff & Thomas O. Carpenter Authors * Rubina Heptulla View author publications You can also search for

this author inPubMed Google Scholar * Karen E. Marchione View author publications You can also search for this author inPubMed Google Scholar * Sally E. Shaywitz View author publications You

can also search for this author inPubMed Google Scholar * Bennett A. Shaywitz View author publications You can also search for this author inPubMed Google Scholar * Akhiro Sakurai View

author publications You can also search for this author inPubMed Google Scholar * Samuel Refetoff View author publications You can also search for this author inPubMed Google Scholar *

Thomas O. Carpenter View author publications You can also search for this author inPubMed Google Scholar RIGHTS AND PERMISSIONS Reprints and permissions ABOUT THIS ARTICLE CITE THIS ARTICLE

Heptulla, R., Marchione, K., Shaywitz, S. _et al._ NEUROCOGNITIVE STUDIES OF A KINDRED WITH RESISTANCE TO THYROID HORMONE (RTH) REVEAL ABNORMALITIES IN LANGUAGE DECODING SKILLS. † 389.

_Pediatr Res_ 41 (Suppl 4), 67 (1997). https://doi.org/10.1203/00006450-199704001-00409 Download citation * Issue Date: 01 April 1997 * DOI: https://doi.org/10.1203/00006450-199704001-00409

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