{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2023,4,1]],"date-time":"2023-04-01T11:11:30Z","timestamp":1680347490802},"reference-count":11,"publisher":"Walter de Gruyter GmbH","issue":"9","content-domain":{"domain":[],"crossmark-restriction":false},"short-container-title":[],"published-print":{"date-parts":[[2022,9,27]]},"abstract":"<jats:title>Abstract<\/jats:title>\n               <jats:sec>\n                  <jats:title>Objectives<\/jats:title>\n                  <jats:p>The aetiology of short stature in cutis laxa (CL) syndromes is largely unknown. Herein, we report a case with autosomal dominant CL type 3 (ADCL3) with severe short stature and growth hormone (GH) deficiency.<\/jats:p>\n               <\/jats:sec>\n               <jats:sec>\n                  <jats:title>Case presentation<\/jats:title>\n                  <jats:p>A male patient with a genetically confirmed diagnosis of ADCL3 was referred for endocrinological evaluation of short stature at the age of 3.4 years. The examination revealed severe proportional short stature (\u22124.14 standard deviations (SD) score for height) in a patient born small for gestational age (birth weight 2080 g, \u22122.46 SD, birth length 41 cm, \u22124.22 SD). Assessment of GH reserve with two clonidine stimulation tests (0.15 mg\/m<jats:sup>2<\/jats:sup>) with peak GH values of 8.07 ng\/mL and 2.98 ng\/mL, respectively, were indicative of GH deficiency. Also, the MRI examination revealed a small size pituitary. Thus, the treatment with somatropin was started. The height deficit significantly improved (from \u22124.14 SD to \u22121.48 SD) without side effects during the follow-up of 4.5 years.<\/jats:p>\n               <\/jats:sec>\n               <jats:sec>\n                  <jats:title>Conclusions<\/jats:title>\n                  <jats:p>With this report, the GH deficiency as a possible cause of short stature in ADCL3 and the response to somatropin administration were reported for the first time in the literature.<\/jats:p>\n               <\/jats:sec>","DOI":"10.1515\/jpem-2022-0054","type":"journal-article","created":{"date-parts":[[2022,6,30]],"date-time":"2022-06-30T09:50:02Z","timestamp":1656582602000},"page":"1211-1214","source":"Crossref","is-referenced-by-count":0,"title":["The response to growth hormone treatment in a child with short stature, growth hormone deficiency and autosomal dominant cutis laxa type 3\u00a0\u2013 case report"],"prefix":"10.1515","volume":"35","author":[{"given":"Mirela E.","family":"Iancu","sequence":"first","affiliation":[{"name":"Research Department , ARTHOPE SRL , Bucharest , Romania"},{"name":"Endocrinology Department , Elias Emergency Hospital , Bucharest , Romania"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Alice I.","family":"Albu","sequence":"additional","affiliation":[{"name":"Endocrinology Department , Elias Emergency Hospital , Bucharest , Romania"},{"name":"\u2018Carol Davila\u2019 University of Medicine and Pharmacy , Bucharest , Romania"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Drago\u0219 N.","family":"Albu","sequence":"additional","affiliation":[{"name":"\u2018Carol Davila\u2019 University of Medicine and Pharmacy , Bucharest , Romania"}],"role":[{"role":"author","vocabulary":"crossref"}]}],"member":"374","published-online":{"date-parts":[[2022,7,1]]},"reference":[{"key":"2023033121130452360_j_jpem-2022-0054_ref_001","doi-asserted-by":"crossref","unstructured":"Berk, DR, Bentley, DD, Bayliss, SJ, Lind, A, Urban, Z. Cutis laxa: a review. J Am Acad Dermatol 2012;66:842.e1\u201317. https:\/\/doi.org\/10.1016\/j.jaad.2011.01.004.","DOI":"10.1016\/j.jaad.2011.01.004"},{"key":"2023033121130452360_j_jpem-2022-0054_ref_002","unstructured":"MSD Mannual Professional Version. Cutis laxa. Available from: https:\/\/www.msdmanuals.com\/professional\/pediatrics\/connective-tissue-disorders-in-children\/cutis-laxa."},{"key":"2023033121130452360_j_jpem-2022-0054_ref_003","doi-asserted-by":"crossref","unstructured":"Sinnige, PF, van Ravenswaaij-Arts, CM, Caruso, P, Lin, AB, Boon, M, Rahikkala, E, et al.. Imaging in cutis laxa syndrome caused by a dominant negative ALDH18A1 mutation, with hypotheses for intracranial vascular tortuosity and wide perivascular spaces. Eur J Paediatr Neurol 2017;21:912\u201320. https:\/\/doi.org\/10.1016\/j.ejpn.2017.07.003.","DOI":"10.1016\/j.ejpn.2017.07.003"},{"key":"2023033121130452360_j_jpem-2022-0054_ref_004","doi-asserted-by":"crossref","unstructured":"Villar, J, Ismail, LC, Victora, CG, Ohuma, EO, Bertino, E, Altman, DG, et al.. International standards for newborn weight, length, and head circumference by gestational age and sex: the newborn cross-sectional study of the INTERGROWTH-21st project. Lancet 2014;384:857\u201368. https:\/\/doi.org\/10.1016\/s0140-6736(14)60932-6.","DOI":"10.1016\/S0140-6736(14)60932-6"},{"key":"2023033121130452360_j_jpem-2022-0054_ref_005","doi-asserted-by":"crossref","unstructured":"Pascanu, I, Pop, R, Barbu, CG, Dumitrescu, CP, Gherlan, I, Marginean, O, et al.. Development of synthetic growth charts for Romanian population. Acta Endocrinol 2016;12:309\u201318. https:\/\/doi.org\/10.4183\/aeb.2016.309.","DOI":"10.4183\/aeb.2016.309"},{"key":"2023033121130452360_j_jpem-2022-0054_ref_006","doi-asserted-by":"crossref","unstructured":"Koklu, E, Gunes, T, Ozturk, MA, Akcakus, M, Buyukkayhan, D, Kurtoglu, S. Cutis laxa associated with central hypothyroidism owing to isolated thyrotropin deficiency in a newborn. Pediatr Dermatol 2007;24:525\u20138. https:\/\/doi.org\/10.1111\/j.1525-1470.2007.00509.x.","DOI":"10.1111\/j.1525-1470.2007.00509.x"},{"key":"2023033121130452360_j_jpem-2022-0054_ref_007","doi-asserted-by":"crossref","unstructured":"Beyens, A, Boel, A, Symoens, S, Callewaert, B. Cutis laxa: a comprehensive overview of clinical characteristics and pathophysiology. Clin Genet 2021;99:53\u201366. https:\/\/doi.org\/10.1111\/cge.13865.","DOI":"10.1111\/cge.13865"},{"key":"2023033121130452360_j_jpem-2022-0054_ref_008","doi-asserted-by":"crossref","unstructured":"Andrews, A, Maharaj, A, Cottrell, E, Chatterjee, S, Shah, P, Denvir, L. Genetic characterization of short stature patients with overlapping features of growth hormone insensitivity syndromes. J Clin Endocrinol Metab 2021;106:e4716\u201333. https:\/\/doi.org\/10.1210\/clinem\/dgab437.","DOI":"10.1210\/clinem\/dgab437"},{"key":"2023033121130452360_j_jpem-2022-0054_ref_009","doi-asserted-by":"crossref","unstructured":"Ma, Y, Zhang, JY, Wang, C, Cen, W, Liu, X, Feng, WL. Clinical presentation of a patient with congenital cutis laxa and abnormal thyroid hormone levels. Case Rep Dermatol 2014;6:43\u20138. https:\/\/doi.org\/10.1159\/000360125.","DOI":"10.1159\/000360125"},{"key":"2023033121130452360_j_jpem-2022-0054_ref_010","unstructured":"Med Line Plus. ALDH18A1 gene. 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Available from: https:\/\/www.proteinatlas.org\/ENSG00000059573-ALDH18A1\/tissue."}],"container-title":["Journal of Pediatric Endocrinology and Metabolism"],"original-title":[],"language":"en","link":[{"URL":"https:\/\/www.degruyter.com\/document\/doi\/10.1515\/jpem-2022-0054\/xml","content-type":"application\/xml","content-version":"vor","intended-application":"text-mining"},{"URL":"https:\/\/www.degruyter.com\/document\/doi\/10.1515\/jpem-2022-0054\/pdf","content-type":"unspecified","content-version":"vor","intended-application":"similarity-checking"}],"deposited":{"date-parts":[[2023,4,1]],"date-time":"2023-04-01T10:50:42Z","timestamp":1680346242000},"score":1,"resource":{"primary":{"URL":"https:\/\/www.degruyter.com\/document\/doi\/10.1515\/jpem-2022-0054\/html"}},"subtitle":[],"short-title":[],"issued":{"date-parts":[[2022,7,1]]},"references-count":11,"journal-issue":{"issue":"9","published-online":{"date-parts":[[2022,8,30]]},"published-print":{"date-parts":[[2022,9,27]]}},"alternative-id":["10.1515\/jpem-2022-0054"],"URL":"https:\/\/doi.org\/10.1515\/jpem-2022-0054","relation":{},"ISSN":["0334-018X","2191-0251"],"issn-type":[{"value":"0334-018X","type":"print"},{"value":"2191-0251","type":"electronic"}],"subject":[],"published":{"date-parts":[[2022,7,1]]}}}