Neonatal detection of generalized resistance to thyroid hormone
Journal Article
·
· JAMA, Journal of the American Medical Association; (United States)
- Univ. of Chicago, IL (USA)
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. The authors 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. Administration of thyroid hormone in doses eightfold to 10-fold above replacement levels 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.
- OSTI ID:
- 5509047
- Journal Information:
- JAMA, Journal of the American Medical Association; (United States), Journal Name: JAMA, Journal of the American Medical Association; (United States) Vol. 264:17; ISSN 0098-7484; ISSN JAMAA
- Country of Publication:
- United States
- Language:
- English
Similar Records
Measuring thyroxine and thyrotropin simultaneously in a dried blood sample on filter paper, to screen for neonatal hypothroidism
Risk factors for thyroid abnormalities after neck irradiation for childhood cancer
A new point mutation (C446R) in the thyroid hormone receptor-{beta} gene of a family with resistance to thyroid hormone
Journal Article
·
Thu May 01 00:00:00 EDT 1980
· Clin. Chem. (Winston-Salem, N.C.); (United States)
·
OSTI ID:6058101
Risk factors for thyroid abnormalities after neck irradiation for childhood cancer
Journal Article
·
Mon Jan 31 23:00:00 EST 1983
· Am. J. Med.; (United States)
·
OSTI ID:6253925
A new point mutation (C446R) in the thyroid hormone receptor-{beta} gene of a family with resistance to thyroid hormone
Journal Article
·
Sun May 01 00:00:00 EDT 1994
· Journal of Clinical Endocrinology and Metabolism
·
OSTI ID:450612
Related Subjects
550601* -- Medicine-- Unsealed Radionuclides in Diagnostics
62 RADIOLOGY AND NUCLEAR MEDICINE
AGE GROUPS
AMINO ACIDS
BIOASSAY
CARBOXYLIC ACIDS
CHILDREN
DIAGNOSTIC TECHNIQUES
DISEASES
HEREDITARY DISEASES
HORMONES
IMMUNOASSAY
IMMUNOLOGY
ISOTOPE APPLICATIONS
METABOLISM
MOLECULAR BIOLOGY
ORGANIC ACIDS
ORGANIC COMPOUNDS
ORGANIC HALOGEN COMPOUNDS
ORGANIC IODINE COMPOUNDS
PEPTIDE HORMONES
PROTEINS
RADIOASSAY
RADIOIMMUNOASSAY
RADIOIMMUNODETECTION
RADIOIMMUNOLOGY
SENSITIVITY
THYROID HORMONES
THYROXINE
TRACER TECHNIQUES
62 RADIOLOGY AND NUCLEAR MEDICINE
AGE GROUPS
AMINO ACIDS
BIOASSAY
CARBOXYLIC ACIDS
CHILDREN
DIAGNOSTIC TECHNIQUES
DISEASES
HEREDITARY DISEASES
HORMONES
IMMUNOASSAY
IMMUNOLOGY
ISOTOPE APPLICATIONS
METABOLISM
MOLECULAR BIOLOGY
ORGANIC ACIDS
ORGANIC COMPOUNDS
ORGANIC HALOGEN COMPOUNDS
ORGANIC IODINE COMPOUNDS
PEPTIDE HORMONES
PROTEINS
RADIOASSAY
RADIOIMMUNOASSAY
RADIOIMMUNODETECTION
RADIOIMMUNOLOGY
SENSITIVITY
THYROID HORMONES
THYROXINE
TRACER TECHNIQUES