{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2025,11,7]],"date-time":"2025-11-07T08:43:48Z","timestamp":1762505028205},"reference-count":23,"publisher":"The Endocrine Society","issue":"4","content-domain":{"domain":[],"crossmark-restriction":false},"short-container-title":[],"published-print":{"date-parts":[[2005,4,1]]},"abstract":"<jats:title>Abstract<\/jats:title>\n               <jats:p>Chromosome 18q deletions (18q\u2212) are survivable autosomal deletions, having an estimated incidence of one in 40,000 live births. Our long-term goals were to 1) comprehensively define the endocrine phenotype, 2) determine the natural history, and 3) identify key genes leading to particular phenotypes. This report specifically emphasizes the thyroid phenotype. Medical record review and comprehensive clinical assessment(s) were performed on 120 individuals with 18q\u2212 at the Chromosome 18 Clinical Research Center, the largest group of individuals with 18q\u2212 ever assembled. Affected subjects ranged in age from 6 wk to 32 yr at initial assessment. Due to case reports of thyroid dysfunction in 18q deletions and the well-established association between hypothyroidism and aneusomies, we undertook thyroid testing in all individuals and completed TRH studies on 50 of them. Our studies demonstrated that 12% had hypothyroidism, and the results were consistent with primary thyroidal dysfunction. Furthermore, two individuals progressed from normal to abnormal over the course of 2 yr. Based on these studies, it appears that, as is the case in other aneusomies, annual thyroid testing, using TSH as a primary screening tool, is indicated. The mechanism of the hypothyroidism is not yet known, and the genetic basis has not been delineated.<\/jats:p>","DOI":"10.1210\/jc.2004-1630","type":"journal-article","created":{"date-parts":[[2005,4,6]],"date-time":"2005-04-06T23:32:44Z","timestamp":1112830364000},"page":"2259-2263","source":"Crossref","is-referenced-by-count":13,"title":["The Spectrum of Thyroid Abnormalities in Individuals with 18q Deletions"],"prefix":"10.1210","volume":"90","author":[{"given":"Rebecca L.","family":"Schaub","sequence":"first","affiliation":[{"name":"Departments of Pediatrics (R.L.S., D.E.H., J.D.C.), San Antonio, Texas 78229;"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Daniel E.","family":"Hale","sequence":"additional","affiliation":[{"name":"Departments of Pediatrics (R.L.S., D.E.H., J.D.C.), San Antonio, Texas 78229;"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Susan R.","family":"Rose","sequence":"additional","affiliation":[{"name":"Division of Endocrinology, Cincinnati\u2019s Children\u2019s Hospital Medical Center and University of Cincinnati (S.R.R.), Cincinnati, Ohio 45229"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Robin J.","family":"Leach","sequence":"additional","affiliation":[{"name":"Cellular and Structural Biology (R.J.L.), University of Texas Health Science Center, San Antonio, Texas 78229;"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Jannine D.","family":"Cody","sequence":"additional","affiliation":[{"name":"Departments of Pediatrics (R.L.S., D.E.H., J.D.C.), San Antonio, Texas 78229;"}],"role":[{"role":"author","vocabulary":"crossref"}]}],"member":"80","reference":[{"key":"2020071616065474600_R1","first-page":"74","article-title":"The 18p\u2212, 18q\u2212 and 18r\u2212 syndromes.","volume":"5","author":"Grouchy","year":"1969","journal-title":"Birth Defects"},{"key":"2020071616065474600_R2","doi-asserted-by":"crossref","first-page":"455","DOI":"10.1002\/(SICI)1096-8628(19990827)85:5<455::AID-AJMG5>3.0.CO;2-Z","article-title":"Congenital anomalies and anthropometry of 42 individuals with deletions of chromosome 18q.","volume":"85","author":"Cody","year":"1999","journal-title":"Am J Med Genet"},{"key":"2020071616065474600_R3","doi-asserted-by":"crossref","first-page":"422","DOI":"10.1002\/(SICI)1096-8628(19970725)74:4<422::AID-AJMG14>3.0.CO;2-K","article-title":"Magnetic resonance imaging demonstrates incomplete myelination in 18q\u2212 syndrome: evidence for myelin basic protein haploinsufficiency.","volume":"72","author":"Gay","year":"1997","journal-title":"Am J Med Genet"},{"key":"2020071616065474600_R4","first-page":"179","article-title":"The 18q\u2212 phenotype: based on a comprehensive clinical assessment of 90 individuals.","author":"Cody","year":"2002"},{"key":"2020071616065474600_R5","article-title":"Identification of a phenotype associated with loss of the DCC gene on chromosome 18. Am J Hum Genet 65(Suppl):A50","author":"Leach","year":"1999"},{"key":"2020071616065474600_R6","doi-asserted-by":"crossref","first-page":"155","DOI":"10.1002\/ajmg.1320030207","article-title":"Syndrome association with the deletion of the long arm of chromosome 18 [del(18q)].","volume":"3","author":"Wilson","year":"1979","journal-title":"Am J Med Genet"},{"key":"2020071616065474600_R7","doi-asserted-by":"crossref","first-page":"7","DOI":"10.1002\/(SICI)1096-8628(19970303)69:1<7::AID-AJMG2>3.0.CO;2-P","article-title":"Growth hormone deficiency associated in the 18q deletion syndrome.","volume":"69","author":"Ghidoni","year":"1997","journal-title":"Am J Med Genet"},{"key":"2020071616065474600_R8","first-page":"4450","article-title":"The spectrum of growth abnormalities in children with 18q deletions.","volume":"85","author":"Hale","year":"2000","journal-title":"J Clin Endocrinol Metab"},{"key":"2020071616065474600_R9","doi-asserted-by":"crossref","first-page":"1990","DOI":"10.1001\/archinte.1989.00390090058012","article-title":"Thyroid dysfunction in individuals with Down syndrome.","volume":"149","author":"Friedman","year":"1989","journal-title":"Arch Intern Med"},{"key":"2020071616065474600_R10","doi-asserted-by":"crossref","first-page":"453","DOI":"10.1210\/jcem-44-3-453","article-title":"Thyroid function in adults with Down\u2019s syndrome.","volume":"44","author":"Murdoch","year":"1977","journal-title":"J Clin Endocrinol Metab"},{"key":"2020071616065474600_R11","doi-asserted-by":"crossref","first-page":"909","DOI":"10.1111\/j.1651-2227.1995.tb13791.x","article-title":"Frequency, clinical and laboratory features of thyroiditis in girls with Turner\u2019s syndrome.","volume":"84","author":"Radetti","year":"1995","journal-title":"Acta Paediatr"},{"key":"2020071616065474600_R12","doi-asserted-by":"crossref","first-page":"673","DOI":"10.1111\/j.1365-2265.1994.tb01835.x","article-title":"Turner\u2019s syndrome with X-isochromosome and Hashimoto\u2019s thyroiditis.","volume":"41","author":"Kerdanet","year":"1994","journal-title":"Clin Endocrinol (Oxf)"},{"key":"2020071616065474600_R13","doi-asserted-by":"crossref","first-page":"892","DOI":"10.1067\/mpd.2001.119448","article-title":"Graves\u2019 disease in patients with 22q11.2 deletion.","volume":"139","author":"Kawame","year":"2001","journal-title":"J Pediatr"},{"key":"2020071616065474600_R14","doi-asserted-by":"crossref","first-page":"34","DOI":"10.1007\/s004310050762","article-title":"Clinical characteristics of children with hypoparathyroidism due to 22q11.2 microdeletion.","volume":"157","author":"Adachi","year":"1998","journal-title":"Eur J Pediatr"},{"key":"2020071616065474600_R15","doi-asserted-by":"crossref","first-page":"1086","DOI":"10.1210\/jcem-68-6-1086","article-title":"Circadian variation of thyrotropin in childhood.","volume":"68","author":"Rose","year":"1989","journal-title":"J Clin Endocrinol Metab"},{"key":"2020071616065474600_R16","doi-asserted-by":"crossref","first-page":"1750","DOI":"10.1210\/jcem-70-6-1750","article-title":"Hypothyroidism and deficiency of the nocturnal thyrotropin surge in children with hypothalamic-pituitary disorders.","volume":"70","author":"Rose","year":"1990","journal-title":"J Clin Endocrinol Metab"},{"key":"2020071616065474600_R17","doi-asserted-by":"crossref","first-page":"190","DOI":"10.1210\/jcem-37-2-190","article-title":"Serum thyrotropin (TSH) in pituitary and\/or hypothalamic hypothyroidism: normal or elevated basal levels and paradoxical responses to thyrotropin-releasing hormone.","volume":"37","author":"Patel","year":"1973","journal-title":"J Clin Endocrinol Metab"},{"key":"2020071616065474600_R18","doi-asserted-by":"crossref","first-page":"177","DOI":"10.1046\/j.1442-200X.1999.4121024.x","article-title":"Anomaly of chromosome 18 complicated with diabetes mellitus and hyperthyroidism.","volume":"41","author":"Nishimura","year":"1999","journal-title":"Pediatr Int"},{"key":"2020071616065474600_R19","author":"Kaplan","year":"1982"},{"key":"2020071616065474600_R20","doi-asserted-by":"crossref","first-page":"1003","DOI":"10.1093\/hmg\/6.7.1003","article-title":"Evidence by allelic association-dependent methods for a type 1 diabetes polygene (IDDM6) on chromosome 18q21.","volume":"6","author":"Merriman","year":"1997","journal-title":"Hum Mol Genet"},{"key":"2020071616065474600_R21","doi-asserted-by":"crossref","first-page":"1710","DOI":"10.1086\/302908","article-title":"Evidence for a new Graves disease susceptibility locus at chromosome 18q21.","volume":"66","author":"Vaidya","year":"2000","journal-title":"Am J Hum Genet"},{"key":"2020071616065474600_R22","doi-asserted-by":"crossref","first-page":"5385","DOI":"10.1210\/jc.2002-020492","article-title":"The genetics of autoimmune thyroid disease.","volume":"87","author":"Vaidya","year":"2002","journal-title":"J Clin Endocrinol Metab"},{"key":"2020071616065474600_R23","doi-asserted-by":"crossref","first-page":"422","DOI":"10.1002\/(SICI)1096-8628(19970725)74:4<422::AID-AJMG14>3.0.CO;2-K","article-title":"Magnetic resonance imaging demonstrates incomplete myelination in 18q\u2212 syndrome: evidence for myelin basic protein haploinsufficiency.","volume":"74","author":"Gay","year":"1997","journal-title":"Am J Med Genet"}],"container-title":["The Journal of Clinical Endocrinology &amp; Metabolism"],"original-title":[],"language":"en","link":[{"URL":"http:\/\/academic.oup.com\/jcem\/article-pdf\/90\/4\/2259\/10775539\/jcem2259.pdf","content-type":"application\/pdf","content-version":"vor","intended-application":"syndication"},{"URL":"http:\/\/academic.oup.com\/jcem\/article-pdf\/90\/4\/2259\/10775539\/jcem2259.pdf","content-type":"unspecified","content-version":"vor","intended-application":"similarity-checking"}],"deposited":{"date-parts":[[2020,7,17]],"date-time":"2020-07-17T03:07:27Z","timestamp":1594955247000},"score":1,"resource":{"primary":{"URL":"https:\/\/academic.oup.com\/jcem\/article\/90\/4\/2259\/2836874"}},"subtitle":[],"short-title":[],"issued":{"date-parts":[[2005,4,1]]},"references-count":23,"journal-issue":{"issue":"4","published-print":{"date-parts":[[2005,4,1]]}},"URL":"https:\/\/doi.org\/10.1210\/jc.2004-1630","relation":{},"ISSN":["0021-972X","1945-7197"],"issn-type":[{"value":"0021-972X","type":"print"},{"value":"1945-7197","type":"electronic"}],"subject":[],"published":{"date-parts":[[2005,4,1]]}}}