{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2025,9,10]],"date-time":"2025-09-10T22:29:26Z","timestamp":1757543366341,"version":"3.40.5"},"reference-count":7,"publisher":"Walter de Gruyter GmbH","issue":"4","content-domain":{"domain":[],"crossmark-restriction":false},"short-container-title":[],"published-print":{"date-parts":[[2021,4,27]]},"abstract":"<jats:title>Abstract<\/jats:title>\n               <jats:p>We present an unusual case of <jats:italic>SHOX<\/jats:italic> deficiency associated with L\u00e9ri-Weill dyschondrosteosis (LWD), Hashimoto\u2019s thyroiditis and pseudohypoparathyroidism 1B in a young woman. To our knowledge, this is the first ever report of these disorders coexisting. At the age of nine\u00a0years, the proband was diagnosed of hypothyroidism due to Hashimoto\u2019s thyroiditis, and developed biochemical abnormalities consistent with hyperphosphatemia, mild hypocalcemia and elevated parathyroid hormone without any clinical symptoms except short stature. Replacement therapy with levothyroxine, calcium and alphacalcidol was initiated. The diagnosis of pseudohypoparathyroidism 1B was confirmed at the age of 17.5 years with the demonstration of methylation alteration at the <jats:italic>GNAS<\/jats:italic> locus. At the age of 16 years, 3.5 years after her menarche, she presented clear features of LWD. A large deletion of the <jats:italic>SHOX<\/jats:italic> gene was confirmed. Family genetic tests were not doable since she was adopted. We discuss the diagnostic challenges of these coexisting rare endocrinopathies.<\/jats:p>","DOI":"10.1515\/jpem-2020-0419","type":"journal-article","created":{"date-parts":[[2020,12,22]],"date-time":"2020-12-22T10:55:47Z","timestamp":1608634547000},"page":"531-534","source":"Crossref","is-referenced-by-count":1,"title":["Coexistence of dyschondrosteosis associated to <i>SHOX<\/i> deficiency, pseudohypoparathyroidism 1B, and chronic autoimmune thyroiditis: a case report"],"prefix":"10.1515","volume":"34","author":[{"ORCID":"https:\/\/orcid.org\/0000-0003-2899-9840","authenticated-orcid":false,"given":"Fernando","family":"Marin","sequence":"first","affiliation":[{"name":"Department of Endocrinology , Hospital Universitario Quironsalud , Madrid , Spain"},{"name":"Medical Sciences School, Universidad Europea , Madrid , Spain"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Esteban","family":"Jodar","sequence":"additional","affiliation":[{"name":"Department of Endocrinology , Hospital Universitario Quironsalud , Madrid , Spain"},{"name":"Medical Sciences School, Universidad Europea , Madrid , Spain"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Jaime","family":"S\u00e1nchez del Pozo","sequence":"additional","affiliation":[{"name":"Department of Pediatrics , Hospital Universitario Quironsalud , Madrid , Spain"}],"role":[{"role":"author","vocabulary":"crossref"}]}],"member":"374","published-online":{"date-parts":[[2020,12,16]]},"reference":[{"key":"2023040101452971045_j_jpem-2020-0419_ref_001_w2aab3b7c31b1b6b1ab2b2b1Aa","doi-asserted-by":"crossref","unstructured":"Mantovani, G, Bastepe, M, Monk, D, de Sanctis, L, Thiele, S, Usardi, A, et al.. Diagnosis and management of pseudohypoparathyroidism and related disorders: first international Consensus Statement. Nat Rev Endocrinol 2018;18:476\u2013500. https:\/\/doi.org\/10.1038\/s41574-018-0042-0.","DOI":"10.1038\/s41574-018-0042-0"},{"key":"2023040101452971045_j_jpem-2020-0419_ref_002_w2aab3b7c31b1b6b1ab2b2b2Aa","doi-asserted-by":"crossref","unstructured":"Marchini, A, Ogata, T, Rappold, GA. A track record on SHOX: from basic research to complex models and therapy. Endocr Rev 2016;37:417\u201348. https:\/\/doi.org\/10.1210\/er.2016-1036.","DOI":"10.1210\/er.2016-1036"},{"key":"2023040101452971045_j_jpem-2020-0419_ref_003_w2aab3b7c31b1b6b1ab2b2b3Aa","doi-asserted-by":"crossref","unstructured":"Binder, G. Short stature due to SHOX deficiency: genotype, phenotype, and therapy. Horm Res Paediatr 2011;75:81\u20139. https:\/\/doi.org\/10.1159\/000324105.","DOI":"10.1159\/000324105"},{"key":"2023040101452971045_j_jpem-2020-0419_ref_004_w2aab3b7c31b1b6b1ab2b2b4Aa","doi-asserted-by":"crossref","unstructured":"Takatani, R, Minagawa, M, Molinaro, A, Reyes, M, Kinoshita, K, Takatani, T, et al.. Similar frequency of paternal uniparental disomy involving chromosome 20q (patUPD20q) in Japanese and Caucasian patients affected by sporadic pseudohypoparathyroidism type Ib (sporPHP1B). Bone 2015;79:15\u201320. https:\/\/doi.org\/10.1016\/j.bone.2015.05.011.","DOI":"10.1016\/j.bone.2015.05.011"},{"key":"2023040101452971045_j_jpem-2020-0419_ref_005_w2aab3b7c31b1b6b1ab2b2b5Aa","doi-asserted-by":"crossref","unstructured":"Rump, P, Jongbloed, JDH, Sikkema-Raddatz, B, Mundlos, S, Klopockiz, E, van der Luijt, RB. Madelung deformity in a girl with a novel and de novo mutation in the GNAS gene. Am J Med Genet Part A 2011;155:2566\u201370. https:\/\/doi.org\/10.1002\/ajmg.a.34218.","DOI":"10.1002\/ajmg.a.34218"},{"key":"2023040101452971045_j_jpem-2020-0419_ref_006_w2aab3b7c31b1b6b1ab2b2b6Aa","doi-asserted-by":"crossref","unstructured":"Sanchez, J, Perera, E, Jan de Beur, S, Ding, C, Dang, A, Berkovitz, GD, et al.. Madelung- like deformity in pseudohypoparathyroidism type 1b. J Clin Endocrinol Metab 2011;96:E1507\u201311. https:\/\/doi.org\/10.1210\/jc.2011-1411.","DOI":"10.1210\/jc.2011-1411"},{"key":"2023040101452971045_j_jpem-2020-0419_ref_007_w2aab3b7c31b1b6b1ab2b2b7Aa","doi-asserted-by":"crossref","unstructured":"Rappold, GA, Blum, WF, Shavrikova, EP, Crowe, BJ, Roeth, R, Quigley, CA, et al.. Genotypes and phenotypes in children with short stature: clinical indicators of SHOX haploinsufficiency. 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