Inheritance of Defective Organification of Iodine in Familial Goitrous Cretinism*

Parker, Rose H.; Beierwaltes, William H.

doi:10.1210/jcem-21-1-21

Cited by 14 publications

(2 citation statements)

References 12 publications

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“…The first identified was a defect in the ability of the thyroid to convert accumulated inorganic iodide into organically bound iodine (Stanbury & Hedge, 1950), leading to a deficiency of thyroid hormone. This was expected to have caused an increased secretion of thyroid-stimulating hormone and to result in the large goitres present in recorded cases (Parker & Beierwaltes, 1961).…”

mentioning

confidence: 99%

Studies of the congenitally goitrous sheep. The iodinated compounds of serum, and circulating thyroid-stimulating hormone

Falconer¹

1966

Biochemical Journal

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1. A group of normal and congenitally goitrous Merino sheep were investigated to identify the metabolic defect present in the abnormal animals. 2. Protein-bound iodine concentrations of serum from goitrous animals (average 5.7mug./100ml.) were higher than normal (average 4.2mug./100ml.; P 0.001), but the hormonal iodine measured as butanol-extractable (131)I was low in the serum of goitrous (average 40.3% of protein-bound (131)I) compared with that of normal (84.2%; P 0.02) sheep. The non-hormonal iodine of the serum of goitrous sheep appeared to include iodotyrosines and iodinated protein. 3. Starch-gel-electrophoretic separations of sera from normal and goitrous sheep after (131)I injection (100-500muc) showed no qualitative differences in the radioactivity of protein components. No significant differences in thyroxine-binding in vitro by serum proteins of normal and goitrous sheep were observed. 4. The clearance rates of (131)I-labelled iodotyrosines (t((1/2)) 1.2-2.9hr.) and iodothyronines (t((1/2)) 33.5-47.4hr.) were similar in normal and goitrous sheep. 5. The concentration of circulating thyroid-stimulating hormone was significantly higher (P<0.01 in three sheep, P<0.05 in one sheep) in goitrous sheep. 6. The congenital goitre appears to be due to compensatory hypertrophy of the gland resulting from an inability to synthesize an adequate supply of thyroid hormone.

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mentioning

confidence: 99%

Studies of the congenitally goitrous sheep. The iodinated compounds of serum, and circulating thyroid-stimulating hormone

Falconer¹

1966

Biochemical Journal

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“…La negativita della prova del tiocianato esclude che possa trattarsi di gozzo da difetto di ossidazione (Stanbyry, 1950;1951;Parker, 1961) nel quale d'altra parte non si trova D I T circolante.…”

Section: Discussion Eunclassified

Gozzo con Ipotiroidismo dovuto a Difetto Familiare di Desiodazione delle Iodotirosine

Bigozzi

Bigazzi

Guazzelli

et al. 1967

Acta genet. med. gemellol.

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SUMMARYThe Authors describe the case of juvenile hypothyroidism with goiter caused by a congenital defect in the synthesis of the thyroid hormones. The picture of thyroid uptake curve, cromatographic separation of thyroid hormones in serum and of thyroid gland tissue, and the PBI concentration, suggest to include the case among the iodothyrosine dehalogenase defects. Such a defect, though very attenuate, has been found in the patient's mother too. From a genetic point of view, Authors suggest to consider both cases heterozygous expression of the defect; though in the daugther this defect is more accentuate.

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Lead Intoxication and the Thyroid

Sandstead¹

1969

Arch Intern Med

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Inheritance of Defective Organification of Iodine in Familial Goitrous Cretinism*

Cited by 14 publications

References 12 publications

Studies of the congenitally goitrous sheep. The iodinated compounds of serum, and circulating thyroid-stimulating hormone

Studies of the congenitally goitrous sheep. The iodinated compounds of serum, and circulating thyroid-stimulating hormone

Gozzo con Ipotiroidismo dovuto a Difetto Familiare di Desiodazione delle Iodotirosine

Lead Intoxication and the Thyroid

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