{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,5,18]],"date-time":"2026-05-18T05:21:54Z","timestamp":1779081714613,"version":"3.51.4"},"reference-count":28,"publisher":"Wiley","issue":"8","license":[{"start":{"date-parts":[[2025,2,21]],"date-time":"2025-02-21T00:00:00Z","timestamp":1740096000000},"content-version":"vor","delay-in-days":0,"URL":"http:\/\/creativecommons.org\/licenses\/by-nc\/4.0\/"},{"start":{"date-parts":[[2025,2,21]],"date-time":"2025-02-21T00:00:00Z","timestamp":1740096000000},"content-version":"tdm","delay-in-days":0,"URL":"http:\/\/doi.wiley.com\/10.1002\/tdm_license_1.1"}],"content-domain":{"domain":["onlinelibrary.wiley.com"],"crossmark-restriction":true},"short-container-title":["Acta Paediatrica"],"published-print":{"date-parts":[[2025,8]]},"abstract":"<jats:title>ABSTRACT<\/jats:title>\n                  <jats:sec>\n                    <jats:title>Aim<\/jats:title>\n                    <jats:p>To assess the prevalence of endocrine disorders and investigate growth patterns in single large\u2010scale mitochondrial DNA deletion syndromes (SLSMDs).<\/jats:p>\n                  <\/jats:sec>\n                  <jats:sec>\n                    <jats:title>Methods<\/jats:title>\n                    <jats:p>A retrospective study of all children with SLSMD who attended Sheba Medical Center, Israel, from February 2017 to September 2024.<\/jats:p>\n                  <\/jats:sec>\n                  <jats:sec>\n                    <jats:title>Results<\/jats:title>\n                    <jats:p>\n                      The cohort included 18 individuals (9 males). The mean age at diagnosis was 4\u2009\u00b1\u20093.8\u2009years and the mean age at analysis was 12\u2009\u00b1\u20095.2\u2009years. All patients exhibited at least one endocrine disorder within 5\u2009years post\u2010diagnosis. The most common were short stature (94%), hypoparathyroidism (83%), diabetes (33%), and delayed puberty (30%). A median of seven height measurements per individual produced 159 data points, which enabled generating unique growth charts. The mean puberty height\u2010SDS was significantly lower than that of the general population (\u22123.71\u2009\u00b1\u20091.17,\n                      <jats:italic>p<\/jats:italic>\n                      \u2009&lt;\u20090.001). The mean Childhood and puberty height\u2010SDS were significantly reduced compared to the preschool period (\u22122.13\u2009\u00b1\u20091.13 vs. \u22123.35\u2009\u00b1\u20091.04,\n                      <jats:italic>p<\/jats:italic>\n                      \u2009=\u20090.01; \u22122.06\u2009\u00b1\u20091.03 vs. \u22123.71\u2009\u00b1\u20091.17,\n                      <jats:italic>p<\/jats:italic>\n                      \u2009=\u20090.007). The mean delta in height\u2010SDS from their parents and the mean insulin\u2010like growth factor 1\u2010SDS were lower than in the general population (2.36\u2009\u00b1\u20091.28,\n                      <jats:italic>p<\/jats:italic>\n                      \u2009=\u20090.0001 and\u2009\u2212\u20091.53\u2009\u00b1\u20090.98,\n                      <jats:italic>p<\/jats:italic>\n                      \u2009&lt;\u20090.0001, respectively).\n                    <\/jats:p>\n                  <\/jats:sec>\n                  <jats:sec>\n                    <jats:title>Conclusion<\/jats:title>\n                    <jats:p>All patients with SLSMD presented with endocrine disorders. Growth during childhood and adolescence was slower. Patients with SLSMD are predisposed to endocrine complications and should undergo timely and routine evaluations.<\/jats:p>\n                  <\/jats:sec>","DOI":"10.1111\/apa.70040","type":"journal-article","created":{"date-parts":[[2025,2,22]],"date-time":"2025-02-22T00:44:12Z","timestamp":1740185052000},"page":"1857-1867","update-policy":"https:\/\/doi.org\/10.1002\/crossmark_policy","source":"Crossref","is-referenced-by-count":2,"title":["Endocrine Abnormalities and Growth Pattern in Single Large\u2010Scale Mitochondrial\n                    <scp>DNA<\/scp>\n                    Deletion Syndromes"],"prefix":"10.1111","volume":"114","author":[{"ORCID":"https:\/\/orcid.org\/0000-0002-2539-0645","authenticated-orcid":false,"given":"Ayman","family":"Daka","sequence":"first","affiliation":[{"name":"Pediatric Ward Edmond and Lily Safra Children's Hospital, Sheba Medical Center  Tel HaShomer Israel"},{"name":"Faculty of Medical and Health Sciences Tel\u2010Aviv University  Tel\u2010Aviv Israel"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Einat","family":"Lahav","sequence":"additional","affiliation":[{"name":"Faculty of Medical and Health Sciences Tel\u2010Aviv University  Tel\u2010Aviv Israel"},{"name":"Pediatric Nephrology Unit Edmond and Lily Safra Children's Hospital, Sheba Medical Center  Tel HaShomer Israel"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Omer Bar","family":"Yosef","sequence":"additional","affiliation":[{"name":"Faculty of Medical and Health Sciences Tel\u2010Aviv University  Tel\u2010Aviv Israel"},{"name":"Pediatric Neurology Unit Edmond and Lily Safra Children's Hospital Sheba Medical Center  Tel HaShomer Israel"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Yoav","family":"Bolkier","sequence":"additional","affiliation":[{"name":"Faculty of Medical and Health Sciences Tel\u2010Aviv University  Tel\u2010Aviv Israel"},{"name":"Pediatric Cardiology Unit Edmond and Lily Safra Children's Hospital Sheba Medical Center  Tel HaShomer Israel"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"ORCID":"https:\/\/orcid.org\/0000-0002-8603-4230","authenticated-orcid":false,"given":"Yael","family":"Levy\u2010Shraga","sequence":"additional","affiliation":[{"name":"Faculty of Medical and Health Sciences Tel\u2010Aviv University  Tel\u2010Aviv Israel"},{"name":"Pediatric Endocrinology and Diabetes Unit Edmond and Lily Safra Children's Hospital Sheba Medical Center  Tel HaShomer Israel"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Yair","family":"Anikster","sequence":"additional","affiliation":[{"name":"Faculty of Medical and Health Sciences Tel\u2010Aviv University  Tel\u2010Aviv Israel"},{"name":"Pediatric Metabolic Disease Unit Edmond and Lily Safra Children's Hospital, Sheba Medical Center  Tel HaShomer Israel"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Elad","family":"Jacoby","sequence":"additional","affiliation":[{"name":"Faculty of Medical and Health Sciences Tel\u2010Aviv University  Tel\u2010Aviv Israel"},{"name":"Division of Pediatric Hematology, Oncology and BMT Edmond and Lily Safra Children's Hospital Sheba Medical Center  Tel HaShomer Israel"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"ORCID":"https:\/\/orcid.org\/0000-0002-2474-3250","authenticated-orcid":false,"given":"Noah","family":"Gruber","sequence":"additional","affiliation":[{"name":"Pediatric Ward Edmond and Lily Safra Children's Hospital, Sheba Medical Center  Tel HaShomer Israel"},{"name":"Faculty of Medical and Health Sciences Tel\u2010Aviv University  Tel\u2010Aviv Israel"},{"name":"Pediatric Endocrinology and Diabetes Unit Edmond and Lily Safra Children's Hospital Sheba Medical Center  Tel HaShomer 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