Familial Syndrome Combining Deaf-Mutism, Stippled Epiphyses, Goiter and Abnormally High PBI: Possible Target Organ Refractoriness to Thyroid Hormone<sup>1</sup><sup>2</sup>

Refetoff, Samuel; T. DeWind, Loren; J. DeGroot, Leslie

doi:10.1210/jcem-27-2-279

Public

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

Published in The Journal of Clinical Endocrinology & Metabolism • Feb 1, 1967

Authors:

Samuel Refetoff

Loren T. DeWind

Leslie J. DeGroot

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 ...

Subject

Endocrinology

Internal medicine

Thyroid

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