{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2025,10,17]],"date-time":"2025-10-17T17:10:11Z","timestamp":1760721011015,"version":"build-2065373602"},"reference-count":14,"publisher":"BMJ","issue":"4","content-domain":{"domain":[],"crossmark-restriction":false},"short-container-title":["J Med Genet"],"published-print":{"date-parts":[[1988,4]]},"abstract":"<jats:p>The observation of Campbell and Price in 1979 that their Unit had diagnosed four subjects with both Klinefelter's syndrome and congenital hypothyroidism raised the suspicion of an association between the two conditions. This, and the published reports of an XX male, five XXY males, and one mosaic XY\/XXY with congenital or acquired forms of hypothyroidism, together with the higher incidence in women and the absence of sex difference among inherited congenital cases, suggested a possible sex chromosome effect in the aetiology of sporadic hypothyroidism. Various hypotheses can be tested either by examining the frequency of hypothyroidism in sex chromatin positive males or by establishing a higher frequency of sex chromatin positive males among hypothyroid cases than in normal males. We examined 57 boys with hypothyroidism for the presence of sex chromatin and found all to be negative. From this relatively small sample we can only exclude the possibility of a very large (100 fold) difference in frequency between the two populations and therefore more data are needed.<\/jats:p>","DOI":"10.1136\/jmg.25.4.247","type":"journal-article","created":{"date-parts":[[2008,11,10]],"date-time":"2008-11-10T15:11:11Z","timestamp":1226329871000},"page":"247-249","source":"Crossref","is-referenced-by-count":5,"title":["Hypothyroidism and sex chromosomes."],"prefix":"10.1136","volume":"25","author":[{"given":"C","family":"Sarri","sequence":"first","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"G B","family":"C\u00f4t\u00e9","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"C","family":"Mengreli","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"I","family":"Lambadaridis","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"S","family":"Pantelakis","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]}],"member":"239","published-online":{"date-parts":[[1988,4,1]]},"reference":[{"key":"ref_1","doi-asserted-by":"crossref","first-page":"439","DOI":"10.1136\/jmg.16.6.439","article-title":"Congenital hypothyroidism in Klinefelter's syndrome","volume":"16","author":"Campbell, W.A.; Price, W.H.","year":"1979","unstructured":"Campbell WA, Price WH. Congenital hypothyroidism in Klinefelter's syndrome. J Med Genet 1979;16:439-42.","journal-title":"J Med Genet"},{"key":"ref_2","doi-asserted-by":"crossref","first-page":"326","DOI":"10.1136\/jmg.17.4.326-a","article-title":"Congenital hypothyroidism and Klinefelter's syndrome","volume":"17","author":"Harris, F.","year":"1980","unstructured":"Harris F. Congenital hypothyroidism and Klinefelter's syndrome. J Med Genet 1980;17:326-7.","journal-title":"J Med Genet"},{"key":"ref_3","first-page":"327","article-title":"Congenital hypothyroidism and Klinefelter's syndrome","volume":"17","author":"Campbell, W.A.; Price, W.H.","year":"1980","unstructured":"Campbell WA, Price WH. Congenital hypothyroidism and Klinefelter's syndrome. J Med Genet 1980;17:327.","journal-title":"J Med Genet"},{"key":"ref_4","first-page":"395","article-title":"Syndrome de myxoedrme congenital et de Klinefelter associ6s","volume":"9","year":"1968","unstructured":"Herbeuval R, Guerci 0, Gilgenkrantz S, Macinot C, Neimann JL. Syndrome de myxoedrme congenital et de Klinefelter associ6s. Rev Fr Endocrinol Clin 1968;9:395-406.","journal-title":"Rev Fr Endocrinol Clin"},{"key":"ref_5","doi-asserted-by":"crossref","first-page":"185","DOI":"10.1007\/BF00441314","article-title":"Neonatal screening for hypothyroidism in Greece","volume":"137","author":"Mengreli, C.; Kassiou, K.; Tsagaraki, S.; Pantelakis, S.","year":"1981","unstructured":"Mengreli C, Kassiou K, Tsagaraki S, Pantelakis S. Neonatal screening for hypothyroidism in Greece. EurJ Pediatr 1981;137: 185-7.","journal-title":"EurJ Pediatr"},{"key":"ref_6","first-page":"19","article-title":"Distribution of TSH levels on dried blood spots in 188.872 Greek newborns:incidence of primary congenital hypothyroidism","volume":"261","author":"S, Mengreli C.Pitoulis S.Pantelakis","year":"1983","unstructured":"Mengreli C. Pitoulis S. Pantelakis S. Distribution of TSH levels on dried blood spots in 188.872 Greek newborns:incidence of primary congenital hypothyroidism. Acta Endocrinol 1983;suppl 261:19-20.","journal-title":"Acta Endocrinol"},{"key":"ref_7","first-page":"21","article-title":"Forty eight cases of primary congenital hypothyroidism diagnosed with the neonatal screening programme","volume":"261","year":"1983","unstructured":"Pantelakis S, Lambadaridis 1, Mengreli C. Forty eight cases of primary congenital hypothyroidism diagnosed with the neonatal screening programme. Acta Endocrinol 1983;suppl 261:21-2.","journal-title":"Acta Endocrinol"},{"key":"ref_8","first-page":"105","article-title":"Heteromorphic X chromosomes in 46. XX males: evidence for the involvement of X-Y interchange. Hum Genet 1979; 49: 11-31. de la Chapelle A. The etiology of XX men","volume":"58","author":"Evans, H.J.; Buckton, K.E.; Carothers, Spowart G.; A.D.","year":"1981","unstructured":"Evans HJ, Buckton KE, Spowart G. Carothers AD. Heteromorphic X chromosomes in 46.XX males: evidence for the involvement of X-Y interchange. Hum Genet 1979;49:11-31. de la Chapelle A. The etiology of XX men. Humn Genet 1981;58:105-16.","journal-title":"Humn Genet"},{"key":"ref_9","doi-asserted-by":"crossref","first-page":"19","DOI":"10.1007\/BF03004619","article-title":"Coexisting Klinefelter's syndrome and primary hypothyroidism with an enlarged pituitary fossa","volume":"141","author":"Drury, M.I.; Sweeney, O.'Loughlin S.; E.C.","year":"1972","unstructured":"Drury MI, O'Loughlin S. Sweeney EC. Coexisting Klinefelter's syndrome and primary hypothyroidism with an enlarged pituitary fossa. Irish J Med Sci 1972;141:19-24.","journal-title":"Irish J Med Sci"},{"key":"ref_10","first-page":"857","article-title":"Co-existing Klinefelter's syndrome, sublingual thyroid and hypothyroidism","volume":"23","author":"Park, H.M.","year":"1982","unstructured":"Park HM. Co-existing Klinefelter's syndrome, sublingual thyroid and hypothyroidism. J Nucl Med 1982;23:857-8.","journal-title":"J Nucl Med"},{"key":"ref_11","doi-asserted-by":"crossref","first-page":"87","DOI":"10.1136\/adc.45.239.87","article-title":"Sex chromatin and chromosome abnormalities among 10,412 liveborn babies","volume":"45","author":"Doxiadis, S.A.","year":"1970","unstructured":"Doxiadis SA. Sex chromatin and chromosome abnormalities among 10,412 liveborn babies. Arch Dis Child 1970;45:87-92.","journal-title":"Arch Dis Child"},{"key":"ref_12","first-page":"675","article-title":"The incidence and etiology of sex chromosome abnormalities in man","volume":"i:","author":"Jacobs, P.A.","year":"1980","unstructured":"Jacobs PA. The incidence and etiology of sex chromosome abnormalities in man. In: Robinson A, Lubs HA, eds. Sex chromosome aneuploidy: prospective studies on children. New York: The National Foundation-March of Dimes. Birth Defects: Original Articles Series 1979;15:3-14. '' Hulse JA, Grant DB, Clayton BE, et al. Population screening for congenital hypothyroidism. 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Types of primary congenital hypothyroidism in Greece. 24th Panhellenic Pediatric Meeting, Chania, Crete, Greece, 21-22 June 1986 (in Greek).","journal-title":"J Pediatr; Types of primary congenital hypothyroidism in Greece. 24th Panhellenic Pediatric Meeting, Chania"}],"container-title":["Journal of Medical Genetics"],"original-title":[],"language":"en","link":[{"URL":"https:\/\/syndication.highwire.org\/content\/doi\/10.1136\/jmg.25.4.247","content-type":"unspecified","content-version":"vor","intended-application":"similarity-checking"}],"deposited":{"date-parts":[[2025,10,17]],"date-time":"2025-10-17T16:54:38Z","timestamp":1760720078000},"score":1,"resource":{"primary":{"URL":"https:\/\/jmg.bmj.com\/lookup\/doi\/10.1136\/jmg.25.4.247"}},"subtitle":[],"short-title":[],"issued":{"date-parts":[[1988,4]]},"references-count":14,"journal-issue":{"issue":"4","published-online":{"date-parts":[[1988,4,1]]},"published-print":{"date-parts":[[1988,4]]}},"alternative-id":["10.1136\/jmg.25.4.247"],"URL":"https:\/\/doi.org\/10.1136\/jmg.25.4.247","relation":{},"ISSN":["0022-2593","1468-6244"],"issn-type":[{"type":"print","value":"0022-2593"},{"type":"electronic","value":"1468-6244"}],"subject":[],"published":{"date-parts":[[1988,4]]}}}