Deletion of the long arms of chromosome 18 (46,XX,18q-) associated with absence of IgA and hypothyroidism in an adult.

Abstract

London et al (1964) recorded the case of a 28-yearold woman who had menstrual periods for 5 years and then became amenorrhoeic. He assumed thai the XX cells had to be present for the ovaries tc function regularly as indicated by normal menstruation. If there is a lack of these XX cells primary amenorrhoea will occur and if the XX cells arc 'used up' then the amenorrhoea will be secondary. Summary A case is reported of a 20-year-old woman with a 45,X complement, with dwarfism and numerous other signs of Turner's syndrome, who has been menstruating for the past five years.The question remains whether a single X-chromosome is sufficient for fertility or whether a mosaic pattern has to be suspected in the ovaries of fertile females with Turner's syndrome.

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

“…Nongoitrous hypothyroidism has been reported in one adult female with E 18q- (19). The authors clearly state that 'hypothyroidism is not a characteris tic of the syndrome'.…”

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.…”

“…IgA deficiency is frequently observed in 18p-or 18q-syndrome. A case of 18q-syndrome associated with absence of IgA and with hypothyroidism by Faed et al (1972) may have suggested a pathogenic relationship of IgA deficiency and the occurrence of hypothyroidism. However, the relationship is less likely, because all of our patients but Case 1 were not complicated with IgA deficiency.…”

“…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).…”

Familial Clustering of Selective IgA Deficiency

“…In Finland the deficiency occurs with a frequency of 1:400 in healthy persons [13] who may nevertheless have some other serological abnormalities too [14]. On the other hand, IgA deficiency may be connected with various disease states [3] and chromosomal defects [7,17].…”