Summary
Thyroid function was studied in five patients with ring chromosome 18 [r(18)] syndrome and in their mothers. Three of the five patients were clinically or subclinically hypothyroid and had an elevated anti-thyroid antibody (ATA) titer. Another patient had a goiter with the histology showing Hashimoto's thyroiditis. Two mothers of the five patients had an elevated ATA titer, one of whom was subclinically hypothyroid. Our findings indicate that autoimmune thyroiditis may occur with high frequency among patients with r(18) syndrome and their mothers. Thus thyroid function tests are always recommended in patients with the syndrome and their mothers.
Similar content being viewed by others
Article PDF
References
Bühler, E.M., Bühler, U.K., and Stalder, G.R. 1964. Partial monosomy 18 and anomaly of thyroxine synthesis.Lancet i: 170–171.
Bühler, E.M. 1983. Unmasking of heterozygosity by inherited balanced translocations. Implication for prenatal diagnosis and gene mapping.Ann. Genet.,26: 133–137.
Faed, M.J.W., Whyte, R., Paterson, C.R., McCathie, M., and Robertson, J.. 1972. Deletion of the long arms of chromosome 18 (46,XX,18q-) associated with absence of IgA and hypothyroidism in an adult.J. Med. Genet. 9: 102–104.
Fialkow, P.J., Thuline, H.C., Hecht, F., and Bryant, J. 1971. Familial predisposition to thyroid disease in Down's syndrome: Controlled immunoclinical studies.Am. J. Hum. Genet. 23: 67–86.
Gluckman, P.D. 1977. Autoimmune thyroiditis in a case of 18p— syndrome.Aust. Pediatr. J. 13: 122–124.
Hasen, J. and Bartalos, M. 1975. Dyshormonogenetic goitrous hypothyroidism in a patient with short arm deletion of E18 chromosome.Hormone Res. 6: 28–35.
Hata, A., Suzuki, Y., Matsui, I., and Kuroki, Y. 1982. Ring 18 mosaicism in identical twinsHum. Genet. 62: 364–367.
Jones, K.L. and Carey, D.E. 1982. Graves disease in a patient with the del(18p) syndrome.Am. J. Med. Genet. 11: 449–452.
Kistenmacher, M.L., DiGeoge, A.M., and Punnett, H.H. 1973. The association of autoimmune disorders with 18p— syndrome.Am. J. Hum. Genet. 26: 49A.
Malpuech, G., Raynaud, E.J., Gaulme, J., and Godeneche, P. 1971. Complete deletion of the short arm of chromosome 18 and G18 translocation with dyschromy and hypothyroidism.Archs. fr. Pediatr. 28: 827.
Ruvalcaba, R.H.A. 1970. Deletion of chromosome group E and thyroid autoimmunity.J. Pediatr. 77: 343–344.
Winter, J.S.D., Ahluwalia, K., and Ray, M. 1972. Congenital hypothyroidism in association with a ring chromosome 18.J. Med. Genet. 9: 122–126.
Author information
Authors and Affiliations
Rights and permissions
About this article
Cite this article
Fukushima, Y., Fukuda, T., Kuroki, Y. et al. Predisposition to autoimmune thyroiditis in ring chromosome 18 syndrome. Jap J Human Genet 29, 127–132 (1984). https://doi.org/10.1007/BF01873533
Received:
Revised:
Published:
Issue Date:
DOI: https://doi.org/10.1007/BF01873533