{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,5,4]],"date-time":"2026-05-04T05:30:47Z","timestamp":1777872647087,"version":"3.51.4"},"reference-count":32,"publisher":"Walter de Gruyter GmbH","issue":"9","funder":[{"name":"Endocrine Society of India","award":["WTIE2017005"],"award-info":[{"award-number":["WTIE2017005"]}]}],"content-domain":{"domain":[],"crossmark-restriction":false},"short-container-title":[],"published-print":{"date-parts":[[2020,9,25]]},"abstract":"Abstract<\/jats:title>\n \n Objectives<\/jats:title>\n To evaluate if the parental origin of X-chromosome has an impact on the phenotype and biochemical profile in Turner syndrome (TS). Result of the previous studies have been equivocal and could be attributable to the multicentric study design with different experts examining heterogeneous TS population of various ethnic background.<\/jats:p>\n <\/jats:sec>\n \n Methods<\/jats:title>\n A cross-sectional single center study from Northern India. Fifty nine diagnosed subjects of TS and their parents participated in the study. Parental origin of intact X-chromosome was determined using 12 highly polymorphic short tandem repeats (STR) on X-chromosome. For the evaluation of parent-of-origin effects, typical phenotypic traits including congenital malformations, anthropometry, body composition by dual energy X-ray absorptiometry (DXA) and biochemical profile were compared. Clinical stigmata of TS in all subjects were examined by a single expert.<\/jats:p>\n <\/jats:sec>\n \n Results<\/jats:title>\n \n The intact X-chromosome was of maternal origin (X\n m<\/jats:sup>\n ) in 49.1% subjects while 50.9% had paternal origin (X\n p<\/jats:sup>\n ). Skeletal anomalies were more common in X\n m<\/jats:sup>\n group, out of which prevalence of short neck and short fourth metatarsal reached statistical significance (p=0.04 and 0.01 respectively). A strong correlation was observed between subject\u2019s baseline height standard deviation score (Ht SDS) and paternal height (r=0.593, p<0.001), maternal height (r=0.564, p<0.001) and mid-parental height (MPH) (r=0.372, p=0.047) in X\n p<\/jats:sup>\n group. This effect was not seen in X\n m<\/jats:sup>\n subjects whose baseline Ht SDS showed no significant correlation with maternal height, paternal height or MPH. No differences were detected between the groups with regard to biochemical profile or body composition.\n <\/jats:p>\n <\/jats:sec>\n \n Conclusions<\/jats:title>\n \n We speculate that the differences in skeletal anomalies and height correlations between X\n m<\/jats:sup>\n and X\n p<\/jats:sup>\n groups could be due to the modifying effect of epigenetic signature on short stature homeobox (\n SHO<\/jats:italic>\n X) gene of X\n m<\/jats:sup>\n .\n SHO<\/jats:italic>\n X gene is not modified on X\n p<\/jats:sup>\n thereby explaining the paucity of skeletal changes and height correlations in X\n p<\/jats:sup>\n subjects.\n <\/jats:p>\n <\/jats:sec>","DOI":"10.1515\/jpem-2020-0104","type":"journal-article","created":{"date-parts":[[2020,9,15]],"date-time":"2020-09-15T07:46:06Z","timestamp":1600155966000},"page":"1155-1163","source":"Crossref","is-referenced-by-count":7,"title":["Impact of parental origin of X-chromosome on clinical and biochemical profile in Turner syndrome"],"prefix":"10.1515","volume":"33","author":[{"given":"Rakhi","family":"Malhotra","sequence":"first","affiliation":[{"name":"Department of Endocrinology and Metabolism , All India Institute of Medical Sciences , New Delhi , India"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Rashmi","family":"Shukla","sequence":"additional","affiliation":[{"name":"Division of Genetics, Department of Pediatrics , All India Institute of Medical Sciences , New Delhi , India"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Madhulika","family":"Kabra","sequence":"additional","affiliation":[{"name":"Division of Genetics, Department of Pediatrics , All India Institute of Medical Sciences , New Delhi , India"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Yashdeep","family":"Gupta","sequence":"additional","affiliation":[{"name":"Department of Endocrinology and Metabolism , All India Institute of Medical Sciences , New Delhi , India"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Viveka P.","family":"Jyotsna","sequence":"additional","affiliation":[{"name":"Department of Endocrinology and Metabolism , All India Institute of Medical Sciences , New Delhi , India"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Rajesh","family":"Khadgawat","sequence":"additional","affiliation":[{"name":"Department of Endocrinology and Metabolism , All India Institute of Medical Sciences , New Delhi , India"}],"role":[{"role":"author","vocabulary":"crossref"}]}],"member":"374","published-online":{"date-parts":[[2020,8,19]]},"reference":[{"key":"2026043017431567906_j_jpem-2020-0104_ref_001_w2aab3b7c21b1b6b1ab2b2b1Aa","doi-asserted-by":"crossref","unstructured":"Nielsen, J, Wohlert, M. Chromosome abnormalities found among 34,910 newborn children: results from a 13-year incidence study in Arhus, Denmark. Hum Genet 1991;87:81\u20133. https:\/\/doi.org\/10.1007\/bf01213097.","DOI":"10.1007\/BF01213097"},{"key":"2026043017431567906_j_jpem-2020-0104_ref_002_w2aab3b7c21b1b6b1ab2b2b2Aa","doi-asserted-by":"crossref","unstructured":"Gravholt, CH, Andersen, NH, Conway, GS, Dekkers, OM, Geffner, ME, Klein, KO, et al. Clinical practice guidelines for the care of girls and women with Turner syndrome: proceedings from the 2016 Cincinnati International Turner Syndrome Meeting. Eur J Endocrinol 2017;177:G1\u2013G70. https:\/\/doi.org\/10.1530\/eje-17-0430.","DOI":"10.1530\/EJE-17-0430"},{"key":"2026043017431567906_j_jpem-2020-0104_ref_003_w2aab3b7c21b1b6b1ab2b2b3Aa","doi-asserted-by":"crossref","unstructured":"Palmer, CG, Reichmann, A. Chromosomal and clinical findings in110 females with Turner syndrome. 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Skeletal features and growth patterns in 14 patients with haploinsufficiency of SHOX:implications for the development of Turner syndrome. J Clin Endocrinol Metab 1999;84:4613\u201321. https:\/\/doi.org\/10.1210\/jcem.84.12.6289.","DOI":"10.1210\/jcem.84.12.6289"},{"key":"2026043017431567906_j_jpem-2020-0104_ref_019_w2aab3b7c21b1b6b1ab2b2c19Aa","unstructured":"Hook, EB. Exclusion of chromosomal mosaicism: tables of 90%,95% and 99% confidence limits and comments on use. Am J Hum Genet 1977;29:94\u20137. PMID: 835578."},{"key":"2026043017431567906_j_jpem-2020-0104_ref_020_w2aab3b7c21b1b6b1ab2b2c20Aa","doi-asserted-by":"crossref","unstructured":"Wolff, DJ, Van Dyke, DL, Powell, CM. Laboratory guideline for Turner syndrome. 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