Cytogenetic analysis in congenital hypothyroidism
- 7 Downloads
In order to evaluate the possible role of genetic factors in the pathogenesis of congenital hypothyroidism (CH), we investigated the occurrence of chromosome aberrations in a consecutive series of 47 patients with CH and 208 matched healthy controls. No abnormal karyotype was found in CH patients. In 5 CH patients and in 3 healthy controls a number of heterochromatin variants was detected. Although chromosomal variants are devoid of phenotypic effects, the frequency of these variants was higher in CH patients than in the control group (10.6% vs 1.4%, p < 0.005). These findings suggest that the association of congenital hypothyroidism with chromosomal variants may reflect more than chance concurrence.
Key-wordsCongenital hypothyroidism karyotype cytogenetic survey
Unable to display preview. Download preview PDF.
- 1.Report of the newborn committee of the European Thyroid Association. Neonatal screening for congenital hypothyroidism in Europe. Acta Endocrinol. (Copenh.) 90: 5 (Suppl. 223), 1979.Google Scholar
- 10.Warkanay J., Selkirk T.K. Discordant monozygotic twins-hypothyroidism. Am. J. Dis. Child 39: 144, 1955.Google Scholar
- 15.Lubs H.A. Occurrence and significance of chromosome variants. In: Sparkes R.S., Comings D.E. Fox C.F. (Eds.), Molecular Human Cytogenetics. Academic Press, New York, 1977, p. 443.Google Scholar