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Niepomniszcze H, Medeiros-Neto GA, Refetoff S, et al. Familial goitre with partial iodine organification defect, lack of thyroglobulin, and high levels of thyroid peroxidase. Clin Endocrinol (Oxf). 1977;6(1):27-39doi: 10.1111/j.1365-2265.1977.tb01993.x.
Niepomniszcze, H., Medeiros-Neto, G. A., Refetoff, S., Degroot, L. J., & Fang, V. S. (1977). Familial goitre with partial iodine organification defect, lack of thyroglobulin, and high levels of thyroid peroxidase. Clinical endocrinology, 6(1), 27-39. https://doi.org/10.1111/j.1365-2265.1977.tb01993.x
Niepomniszcze, H, et al. "Familial goitre with partial iodine organification defect, lack of thyroglobulin, and high levels of thyroid peroxidase." Clinical endocrinology vol. 6,1 (1977): 27-39. doi: https://doi.org/10.1111/j.1365-2265.1977.tb01993.x
Niepomniszcze H, Medeiros-Neto GA, Refetoff S, Degroot LJ, Fang VS. Familial goitre with partial iodine organification defect, lack of thyroglobulin, and high levels of thyroid peroxidase. Clin Endocrinol (Oxf). 1977 Jan;6(1):27-39. doi: 10.1111/j.1365-2265.1977.tb01993.x. PMID: 844215.
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Clin Endocrinol (Oxf). 1977 Jan;6(1):27-39. doi: 10.1111/j.1365-2265.1977.tb01993.x.

Familial goitre with partial iodine organification defect, lack of thyroglobulin, and high levels of thyroid peroxidase.

Clinical endocrinology

H Niepomniszcze, G A Medeiros-Neto, S Refetoff, L J Degroot, V S Fang

PMID: 844215 DOI: 10.1111/j.1365-2265.1977.tb01993.x

Abstract

From a sibship of three sisters having congenital goitre and normal hearing, two had impairment of organification of iodine. S1 (4 years old) had goitre since birth, euthyroidism, and a negative perchlorate test. S2 (15 years old) and S3 (13 years old) were hypothyroid, and had radioiodide discharge after potassium perchlorate administration of 19.8% and 26.1%, respectively. Thyroid tissue was obtained at thyroidectomy. Peroxidase activity, in the thyroidal subcellular particles, was found to be qualitatively normal, but quantitatively increased. In the triiodide assay, the activity was: S1 6912 u, S2 2590 u, and S3 3844 u (normal values 900-1700 u). In the tyrosine-iodinase assay, the activities, expressed as nmoles of iodide incorporation per gram of tissue, were S1 1046, S2 471 (normal values 220-410). The activity of the thyroidal NADPH-cytochrome c reductase, an enzyme possibly involved in hydrogen peroxide generation, was: S1 0.084, S2 0.047, and S3 0.005 (normal values 0.018 muEq/min/mg). No thyroglobulin was detected by analytical ultracentrifugation, polyacrylamide gel electrophoresis, or double immunodiffusion in agar of the supernatant fractions. In patient S2, whose gland was labelled in vivo with 125I, 60% of the total radioactivity of the gland (pooled nodular and paranodular specimens) was in a particulate iodoprotein that was solublilized by trypsin, deoxycholate or digitonin. In the soluble fraction there were two iodoproteins: iodalbumin, and a second iodoprotein similar to the solubilized particulate iodoprotein. It is postulated that absence of the normal thyroidal receptor protein might be in some cases a cause of iodine organification defect.

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