Am J Hum Genet. 1977 Mar;29(2):142-8.

Partial and total iodide organification defect in different sibships in a kindred.

Perez-Cuvit E, Crigler JF Jr, Stanbury JB.

Abstract

Identical twins with goiter but without intellectual retardation and with slightly delayed bone age were found to have defective iodide organification as demonstrated by incomplete perchlorate discharge tests. They are grandnieces of a normal member of a sibship which included four children with severe retardation and complete thyroid iodide organification defect. The parents and grandparents are not consanguine. Possible explanations are considered for the problem of why the disorder is manifest completely in one sibship and only partially in the other.

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PMCID:: PMC1685251

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Familial goitre with partial iodine organification defect, lack of thyroglobulin, and high levels of thyroid peroxidase. [Clin Endocrinol (Oxf). 1977]
Familial goitre with partial iodine organification defect, lack of thyroglobulin, and high levels of thyroid peroxidase.
Niepomniszcze H, Medeiros-Neto GA, Refetoff S, Degroot LJ, Fang VS. Clin Endocrinol (Oxf). 1977 Jan; 6(1):27-39.
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Review Pendred syndrome.
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Review Defective organification of iodide causing hereditary goitrous hypothyroidism.
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