Dyshormonogenetic Goitrous Hypothyroidism in a Patient with Short Arm Deletion of E18 Chromosome

Abstract

A well-documented case of partial thyroidal iodide transport deficiency in a patient with E18p- is described. It is suggested that several genes regulating various steps of intrathyroidal iodide utilization are localized in this area of chromosome E18.

Predisposition to autoimmune thyroiditis in ring chromosome 18 syndrome

“…There have been six patients with 18p-syndrome associated with hypothyroidism (Biihler et al, 1964;Ruvalcava, 1970;Malpuech et aI., 1971;Kistenmacher et al, 1973;Hasen and Bartalos, 1975;Gluckman, 1977), one 18p-patient with Graves disease (Jones and Carey, 1982), one 18q-patient with hypothyroidim (Faed et al, 1972), and one r(18) patient with hypothyroidism (Winter et al, 1972). Hypothyroidism in three of these six patients with 18p-, as in our four patients, had been attributed to autoimmune thyroiditis.…”

“…Susceptibility to thyroid diseases in a patient with an abnormality of chromosome 18, especially with 18p-syndrome, has been repeatedly reported (Biihler et al, 1964;Ruvalcava, 1970;Malpuech et al, t971;Faed et al, 1972;Kistenmacher et al, 1973;Hasen and Bartalos, 1975;Gluckman, 1977;Jones and Carey, 1982). Among the chromosome 18 abnormalities, ring chromosome 18 [r(18)] syndrome is relatively rare, and there has been only a patient in which both r(18) syndrome and hypothyroidism were observed (Winter et al, 1972).…”

The role of serum thyroglobulin concentration and thyroid ultrasound imaging in the detection of iodide transport defects in infants

“…Since the first report in 1958 of a genetically de¬ termined inability to concentrate iodide in the thyroid (12)(13)(14), a total of 35 patients (our case in¬ cluded) from 21 families have been described (1,(12)(13)(14)(15)(16)(17)(18)(19)(20)(21)(22)(23)(24)(25)(26)(27)(28)(29)(30). The male-to-female ratio up till now is 0.75, just the reverse of the earlier calculated male predominance (1).…”

Graves disease in a patient with the del(18p) syndrome

“…Previous reports have described both autoimmune disease [I, 2, 31 and purported errors of hormonogenesis [4]. We report a patient with the del(l8p) syndrome and autoimmune thyroid disease with clinical and histological manifestations of Graves disease.…”

“…In addition, questions may be raised about 6 patients with abnormalities of chromosome 18 summarized by Hasen and Bartalos who were proposed as inborn errors of thyroxin biosynthesis [4]. Of these 6 patients, 3 lacked sufficient data to propose a defect.…”