The Metabolism of Iodotyrosines. Ii the Metabolism of Mono- And Di-Iodotyrosine Ii Certain Patients With Familial Goiter*

Stanbury, John B.; Meijer, J. W. A.; Kassenaar, A. A. H.

doi:10.1210/jcem-16-7-848

Cited by 106 publications

(21 citation statements)

References 7 publications

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“…Although Kusakabe proposed autosomal dominant inheritance (Kusakabe & Miyake, 1963), other reported cases of familial goitre due to deiodinase deficiency follow an autosomal recessive pattern (Stanbury et al, 1956;Ismail-Beigi & Rahimifar, 1977;Codoccioni et al, 1978). Primary hypothyroidism was documented by low serum T4 and T3 levels and markedly elevated levels of TSH.…”

Section: Discussionmentioning

confidence: 99%

“…In two oftheir patients however, the thyroidal "'lI uptake remained high (75% and 77%) at 24 hours, which is similar to what we observed in Case 2 in 1980. Stanbury et al (1956) showed that when "1'I-MIT and 131I-DIT were administered to patients with familial goitres due to deiodinase deficiency, the labelled precursors were excreted unchanged in the urine, demonstrating that deiodination did not occur in these subjects. The enzyme responsible for deiodinating iodotyrosines is present not only in thyroid tissue, but also in liver and kidney (Kusakabe & Miyake, 1964).…”

Section: Discussionmentioning

confidence: 99%

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Evolution of hypothyroidism in familial goitre due to deiodinase deficiency: report of a family and review of the literature

Hirsch

Shilo

Spitz

1986

Postgraduate Medical Journal

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Summary:We studied two sisters who developed large non-toxic goitres in adolescence. Deiodinase deficiency was diagnosed by a rapid thyroid uptake ofradioactive iodine (RAI) at 2 hours associated with a marked fail in thyroidal 131I by 24 hours. Serial RAI scans in the second patient documented evolution of the iodine-deficient state. Conservation of intra-thyroidal iodine stores was maintained by avid iodine uptake and failure to release organified 1311. With progressive loss of inorganic iodine, hypothyroidism developed, associated with a rise in serum TSH which further exacerbated the loss of iodine. Treatment with L-thyroxine resulted in an improvement ofthyroid function, but normalization was achieved only after small doses of Lugol's iodine were administered.These studies illustrate the variable nature and late onset of an inborn error of thyroid metabolism. This family supports an autosomal recessive mode of inheritance for deiodinase deficiency. We have documented progression from a euthyroid to hypothyroid state resulting from decompensation of iodine conservation mechanisms.

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Section: Discussionmentioning

confidence: 99%

Section: Discussionmentioning

confidence: 99%

Evolution of hypothyroidism in familial goitre due to deiodinase deficiency: report of a family and review of the literature

Hirsch

Shilo

Spitz

1986

Postgraduate Medical Journal

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“…Five defects were established. In addition to defects i � iodotyrosyl coupling (155), deiodination (156,157), conversion of iodide to organic form (158), a defect in iodine trapping or concentration was described (159). In the remaining group an abnormal serum iodoprotein is present, as evidenced by decreased extracta bility into acid butanol (160,161).…”

Section: Endocrinesmentioning

confidence: 99%

Inborn Errors of Metabolism

Larner¹

1962

Annu. Rev. Biochem.

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“…[3][4][5][6][7][8][9][10][11][12][13][14][15][16] Eight children with this disorder are presented in this report in conjunction with data from laboratory investigations of their altered iodine metabolism. Pathologic data from these and other cases are described in a subsequent publication.17 gland gradually increased in size.…”

Section: Introductionmentioning

confidence: 99%