Abstract
Generalized resistance to thyroid hormone (GRTH) is an inherited disease that is usually suspected when elevated serum thyroid hormone levels are associated with nonsuppressed thyrotropin. Often these test results are obtained because of short stature, decreased intelligence, and/or hyperactivity with learning disability noted in childhood and adolescence, or because of goiter in adulthood. We detected GRTH at birth by analysis of blood obtained during routine neonatal screening. The proposita, born to a mother with GRTH, had a thyrotropin level of 26 mU/L and a corresponding thyroxine concentration of 656 nmol/L (normal, 84 to 232 nmol/L). Administration of thyroid hormone in doses eightfold to 10-fold above replacement levels (liothyronine sodium, 21 μg/kg per day, and levothyroxine sodium, 44 μg/kg per day) were required to reduce serum thyrotropin to normal levels without induction of hypermetabolism. This case, and the retrospective finding of high thyroxine levels in five newborns subsequently diagnosed as having GRTH, suggest that measurement of thyroxine at birth, in conjunction with thyrotropin, could allow the early detection of GRTH.
| Original language | English (US) |
|---|---|
| Pages (from-to) | 2245-2250 |
| Number of pages | 6 |
| Journal | Journal of the American Medical Association |
| Volume | 264 |
| Issue number | 17 |
| DOIs | |
| State | Published - 1990 |
| Externally published | Yes |
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ASJC Scopus subject areas
- Medicine(all)
Cite this
Neonatal detection of generalized resistance to thyroid hormone. / Weiss, Roy E; Balzano, S.; Scherberg, N. H.; Refetoff, S.
In: Journal of the American Medical Association, Vol. 264, No. 17, 1990, p. 2245-2250.Research output: Contribution to journal › Article
}
TY - JOUR
T1 - Neonatal detection of generalized resistance to thyroid hormone
AU - Weiss, Roy E
AU - Balzano, S.
AU - Scherberg, N. H.
AU - Refetoff, S.
PY - 1990
Y1 - 1990
N2 - Generalized resistance to thyroid hormone (GRTH) is an inherited disease that is usually suspected when elevated serum thyroid hormone levels are associated with nonsuppressed thyrotropin. Often these test results are obtained because of short stature, decreased intelligence, and/or hyperactivity with learning disability noted in childhood and adolescence, or because of goiter in adulthood. We detected GRTH at birth by analysis of blood obtained during routine neonatal screening. The proposita, born to a mother with GRTH, had a thyrotropin level of 26 mU/L and a corresponding thyroxine concentration of 656 nmol/L (normal, 84 to 232 nmol/L). Administration of thyroid hormone in doses eightfold to 10-fold above replacement levels (liothyronine sodium, 21 μg/kg per day, and levothyroxine sodium, 44 μg/kg per day) were required to reduce serum thyrotropin to normal levels without induction of hypermetabolism. This case, and the retrospective finding of high thyroxine levels in five newborns subsequently diagnosed as having GRTH, suggest that measurement of thyroxine at birth, in conjunction with thyrotropin, could allow the early detection of GRTH.
AB - Generalized resistance to thyroid hormone (GRTH) is an inherited disease that is usually suspected when elevated serum thyroid hormone levels are associated with nonsuppressed thyrotropin. Often these test results are obtained because of short stature, decreased intelligence, and/or hyperactivity with learning disability noted in childhood and adolescence, or because of goiter in adulthood. We detected GRTH at birth by analysis of blood obtained during routine neonatal screening. The proposita, born to a mother with GRTH, had a thyrotropin level of 26 mU/L and a corresponding thyroxine concentration of 656 nmol/L (normal, 84 to 232 nmol/L). Administration of thyroid hormone in doses eightfold to 10-fold above replacement levels (liothyronine sodium, 21 μg/kg per day, and levothyroxine sodium, 44 μg/kg per day) were required to reduce serum thyrotropin to normal levels without induction of hypermetabolism. This case, and the retrospective finding of high thyroxine levels in five newborns subsequently diagnosed as having GRTH, suggest that measurement of thyroxine at birth, in conjunction with thyrotropin, could allow the early detection of GRTH.
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U2 - 10.1001/jama.264.17.2245
DO - 10.1001/jama.264.17.2245
M3 - Article
C2 - 2120481
AN - SCOPUS:0025094303
VL - 264
SP - 2245
EP - 2250
JO - JAMA - Journal of the American Medical Association
JF - JAMA - Journal of the American Medical Association
SN - 0002-9955
IS - 17
ER -