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Cited by 568Thyroid Disorders and TreatmentsGenomics and Rare DiseasesGrowth Hormone and Insulin-like Growth Factors

Familial Syndrome Combining Deaf-Mutism, Stippled Epiphyses, Goiter and Abnormally High PBI: Possible Target Organ Refractoriness to Thyroid Hormone12

REFETOFF, SAMUEL, DEWIND, LOREN T., DEGROOT, LESLIE J.·1967·The Journal of Clinical Endocrinology & Metabolism
DOI 10.1210/jcem-27-2-279
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Abstract

The occurrence of a bizarre familial syndrome combining deaf-mutism, stippled epiphyses, goiter and abnormally high PBI in 2 of 6 children of a consanguineous marriage is described. Mean PBI levels were 14 and 21 μg/100 ml; BEI 9 and 15 μg/100 ml; T4-by-column 11 and 14 μg/100 ml; 24-hr 131I uptake 49 and 70%; 24-hr PB13lI conversion ratios 40 and 41%; thyro-binding index 0.81 and 0.93; TBG 17 and 20 μg/100 ml; antithyroglobulin titer less than 1:16. Potassium perchlorate discharge test was normal. Iodine metabolism studied in one subject revealed thyroid iodine clearance of 24 ml/min and renal clearance of 26 ml/min. Urinary iodide excretion was 294 υg/day, and PB131I was over 70% as T4. The T4 was identified on paper chromatography in 3 solvent systems. The free thyroxine level was 4.9 mμg/100 ml. An infant of 8 weeks had a mean PBI of 19.3 μg/100 ml, TBG of 15.8 μg/100 ml, and presumably also has the syndrome. Another sib had a mean PBI of 11 μg/100 ml. Two sibs and the parents are normal. A hypothesis is advanced suggesting the possibility of inhibition of thyroid hormone transport into tissue, or end-organ resistance to the hormone in view of the eumetabolic state of the subjects in the presence of high circulating levels of blood thyroxine and normal thyroxine binding capacity.

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Crossref · 10.1210/jcem-27-2-279

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  • Dominant-negative mutations of THRB cause disruption of the HPT axis.

    “RTHβ results from dominant-negative mutations of THRB that cause disruption of the HPT axis leading to a characteristic increase in TSH along with inappropriately normal or increased circulating T4 and T3 levels [86–88].”

    From Thyroid diseases and bone health (2018) · cites this paper as [87]

  • Disruption of the HPT axis in RTHβ leads to a characteristic increase in TSH along with inappropriately normal or increased circulating T4 and T3 levels.

    “RTHβ results from dominant-negative mutations of THRB that cause disruption of the HPT axis leading to a characteristic increase in TSH along with inappropriately normal or increased circulating T4 and T3 levels [86–88].”

    From Thyroid diseases and bone health (2018) · cites this paper as [87]

  • RTHβ results from dominant-negative mutations of THRB.

    “RTHβ results from dominant-negative mutations of THRB that cause disruption of the HPT axis leading to a characteristic increase in TSH along with inappropriately normal or increased circulating T4 and T3 levels [86–88].”

    From Thyroid diseases and bone health (2018) · cites this paper as [87]

Cited by

Sorted by citations

Authors
REFETOFF, S., DEWIND, L. T., & DEGROOT, L. J.
Affiliations
Good Samaritan Hospital (US)
ORCID
REFETOFF, SAMUEL
Venue
The Journal of Clinical Endocrinology & Metabolism
Publisher
The Endocrine Society
Published
1967-02
Volume
27
Issue
2
Pages
279-294
ISSN
  • 0021-972X (ISSN-L)
  • 1945-7197
DOI
10.1210/jcem-27-2-279
OpenAlex
W1972111689
Cited by
568
References
0
Citations by year
2026: 7 · 2025: 11 · 2024: 14 · 2023: 14 · 2022: 17 · 2021: 13 · 2020: 11 · 2019: 15 · 2018: 13 · 2017: 19 · 2016: 10 · 2015: 19 · 2014: 23 · 2013: 12 · 2012: 11
FWCI
8.75
Type
journal article
Language
en
Open access
closed
Locations
  • The Journal of Clinical Endocrinology & Metabolism (publishedVersion)
  • PubMed (publishedVersion)
Topics
  • Health Sciences › Medicine › Endocrinology, Diabetes and Metabolism › Thyroid Disorders and Treatments
  • Life Sciences › Biochemistry, Genetics and Molecular Biology › Genetics › Genomics and Rare Diseases
  • Health Sciences › Medicine › Endocrinology, Diabetes and Metabolism › Growth Hormone and Insulin-like Growth Factors
Keywords
familial syndrome, deaf-mutism, goiter, thyroid hormone resistance, thyroid hormone transport, consanguinity, thyroxine-binding capacity, iodine metabolism, urinary iodide excretion, free thyroxine, congenital hypothyroidism
MeSH terms
Child, Child, Preschool, Chondrodysplasia Punctata, Deafness, Female, Goiter, Heart Rate, Humans, Infant, Infant, Newborn, Iodine, Iodine Radioisotopes, Kinetics, Male, Reflex, Stretch, Thyroid Function Tests, Thyroid Gland, Thyroid Hormones, Thyroxine-Binding Proteins

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