{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2025,10,16]],"date-time":"2025-10-16T07:01:30Z","timestamp":1760598090897,"version":"3.41.2"},"reference-count":10,"publisher":"Walter de Gruyter GmbH","issue":"0","content-domain":{"domain":[],"crossmark-restriction":false},"short-container-title":[],"abstract":"Abstract<\/jats:title>\n \n Objectives<\/jats:title>\n Benign Hereditary Chorea (BHC) (MIM 118700) is a rare childhood-onset movements disorder characterized by non-progressive chorea. It is usually caused by variants in the thyroid transcription factor 1 (TITF-1\/NKX2-1) gene and it is associated with thyroid dysfunction and pulmonary symptoms in the brain\u2013lung\u2013thyroid syndrome.<\/jats:p>\n <\/jats:sec>\n \n Case presentation<\/jats:title>\n We reported the clinical case of a toddler presenting with neurological symptoms (hypotonia, delayed motor milestones, and axial dystonia) and subclinical hypothyroidism in which we found a \u2018de novo<\/jats:italic>\u2019 variant in the NKX2-1 gene.<\/jats:p>\n <\/jats:sec>\n \n Conclusions<\/jats:title>\n The peculiarity of our case is that the mild alteration of thyroid-stimulating hormone (TSH) levels, hypotonia, and delayed motor milestones were associated with growth hormone deficiency.<\/jats:p>\n <\/jats:sec>","DOI":"10.1515\/jpem-2021-0402","type":"journal-article","created":{"date-parts":[[2021,10,28]],"date-time":"2021-10-28T20:44:34Z","timestamp":1635453874000},"source":"Crossref","is-referenced-by-count":1,"title":["Growth hormone deficiency in a child with benign hereditary chorea caused by a de novo<\/i> mutation of the TITF1\/NKX2-1 gene"],"prefix":"10.1515","volume":"0","author":[{"given":"Viola","family":"Trevisani","sequence":"first","affiliation":[{"name":"Department of Medical and Surgical Sciences of the Mothers, Post Graduate School of Pediatrics, Children and Adults , University of Modena and Reggio Emilia , Modena , Italy"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"ORCID":"https:\/\/orcid.org\/0000-0002-3302-6886","authenticated-orcid":false,"given":"Barbara","family":"Predieri","sequence":"additional","affiliation":[{"name":"Department of Medical and Surgical Sciences of the Mothers, Post Graduate School of Pediatrics, Children and Adults , University of Modena and Reggio Emilia , Modena , Italy"},{"name":"Department of Medical and Surgical Sciences of the Mothers, Pediatric Unit, Children and Adults , University of Modena and Reggio Emilia , Modena , Italy"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Simona Filomena","family":"Madeo","sequence":"additional","affiliation":[{"name":"Department of Medical and Surgical Sciences of the Mothers, Pediatric Unit, Children and Adults , University of Modena and Reggio Emilia , Modena , Italy"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"ORCID":"https:\/\/orcid.org\/0000-0001-9321-0952","authenticated-orcid":false,"given":"Carlo","family":"Fusco","sequence":"additional","affiliation":[{"name":"Department of Pediatrics, Child Neurology Unit and Pediatric Neurophysiology Laboratory , Azienda USL-IRCCS , Reggio Emilia , Italy"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"ORCID":"https:\/\/orcid.org\/0000-0002-7684-3982","authenticated-orcid":false,"given":"Livia","family":"Garavelli","sequence":"additional","affiliation":[{"name":"Mother and Child Health Department, Medical Genetics Unit , Azienda USL-IRCCS , Reggio Emilia , Italy"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Stefano","family":"Caraffi","sequence":"additional","affiliation":[{"name":"Mother and Child Health Department, Medical Genetics Unit , Azienda USL-IRCCS , Reggio Emilia , Italy"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"ORCID":"https:\/\/orcid.org\/0000-0003-0370-7872","authenticated-orcid":false,"given":"Lorenzo","family":"Iughetti","sequence":"additional","affiliation":[{"name":"Department of Medical and Surgical Sciences of the Mothers, Post Graduate School of Pediatrics, Children and Adults , University of Modena and Reggio Emilia , Modena , Italy"},{"name":"Department of Medical and Surgical Sciences of the Mothers, Pediatric Unit, Children and Adults , University of Modena and Reggio Emilia , Modena , Italy"}],"role":[{"role":"author","vocabulary":"crossref"}]}],"member":"374","published-online":{"date-parts":[[2021,10,28]]},"reference":[{"key":"2021110312505071091_j_jpem-2021-0402_ref_001_w2aab3b7b3b1b6b1ab2b1b1Aa","doi-asserted-by":"crossref","unstructured":"Haerer, AF, Currier, RD, Jackson, JF. Hereditary nonprogressive chorea of early onset. N Engl J Med 1967;276:1220\u20134. https:\/\/doi.org\/10.1056\/NEJM196706012762202.","DOI":"10.1056\/NEJM196706012762202"},{"key":"2021110312505071091_j_jpem-2021-0402_ref_002_w2aab3b7b3b1b6b1ab2b1b2Aa","doi-asserted-by":"crossref","unstructured":"de Vries, BB, Arts, WF, Breedveld, GJ, Hoogeboom, JJ, Niermeijer, MF, Heutink, P. Benign hereditary chorea of early onset maps to chromosome 14q. Am J Hum Genet 2000;66:136\u201342. https:\/\/doi.org\/10.1086\/302725.","DOI":"10.1086\/302725"},{"key":"2021110312505071091_j_jpem-2021-0402_ref_003_w2aab3b7b3b1b6b1ab2b1b3Aa","doi-asserted-by":"crossref","unstructured":"Breedveld, GJ, Percy, AK, MacDonald, ME, de Vries, BB, Yapijakis, C, Dure, LS, et al.. Clinical and genetic heterogeneity in benign hereditary chorea. 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Genes Dev 1996;10:60\u20139. https:\/\/doi.org\/10.1101\/gad.10.1.60.","DOI":"10.1101\/gad.10.1.60"},{"key":"2021110312505071091_j_jpem-2021-0402_ref_009_w2aab3b7b3b1b6b1ab2b1c10Aa","doi-asserted-by":"crossref","unstructured":"Glik, A, Vuillaume, I, Devos, D, Inzelberg, R. Psychosis, short stature in benign hereditary chorea: a novel thyroid transcription factor-1 mutation. 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