{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2025,12,23]],"date-time":"2025-12-23T12:25:10Z","timestamp":1766492710113,"version":"3.40.5"},"reference-count":15,"publisher":"Walter de Gruyter GmbH","issue":"12","content-domain":{"domain":[],"crossmark-restriction":false},"short-container-title":[],"published-print":{"date-parts":[[2024,12,17]]},"abstract":"<jats:title>Abstract<\/jats:title>\n               <jats:sec id=\"j_jpem-2024-0244_abs_001\">\n                  <jats:title>Objectives<\/jats:title>\n                  <jats:p>To present the clinical journey and management of a 15-year-old female with SHORT syndrome, highlighting the diagnostic challenges and the novel genetic mutation identified.<\/jats:p>\n               <\/jats:sec>\n               <jats:sec id=\"j_jpem-2024-0244_abs_002\">\n                  <jats:title>Case presentation<\/jats:title>\n                  <jats:p>A 15-year-old Filipino female was initially seen in a dermatology clinic at 9 years old for axillary skin darkening, indicative of acanthosis nigricans. Early evaluations revealed elevated blood glucose levels, resulting in a pediatric diabetes diagnosis without the usual hyperglycemic symptoms. Her medical history was notable for premature birth, intrauterine growth restriction, a cardiac murmur from patent ductus arteriosus and a bicuspid aortic valve, delayed teething, and distinct dysmorphic features. Genetic testing identified a novel <jats:italic>PIK3R1<\/jats:italic> gene mutation. Treatment with metformin significantly improved her glycemic control and lipid profiles. The patient also displayed delayed puberty and polycystic ovary syndrome-like symptoms, but growth hormone deficiency was excluded. Endocrine evaluation for her short stature and lipodystrophy confirmed the presence of the <jats:italic>PIK3R1<\/jats:italic> mutation.<\/jats:p>\n               <\/jats:sec>\n               <jats:sec id=\"j_jpem-2024-0244_abs_003\">\n                  <jats:title>Conclusions<\/jats:title>\n                  <jats:p>This case highlights the importance of thorough endocrine and genetic evaluations in patients with complex clinical presentations like SHORT syndrome. The identification of a novel <jats:italic>PIK3R1<\/jats:italic> gene mutation expands the\u00a0understanding of the genetic basis of this syndrome and\u00a0underscores the need for individualized treatment approaches.<\/jats:p>\n               <\/jats:sec>","DOI":"10.1515\/jpem-2024-0244","type":"journal-article","created":{"date-parts":[[2024,9,11]],"date-time":"2024-09-11T07:34:43Z","timestamp":1726040083000},"page":"1096-1099","source":"Crossref","is-referenced-by-count":1,"title":["Novel <i>PIK3R1<\/i> gene mutation associated with SHORT syndrome: a case report of a 15-year-old female"],"prefix":"10.1515","volume":"37","author":[{"given":"Amani","family":"Osman","sequence":"first","affiliation":[{"name":"432720 Imperial College London Diabetes Centre , Abu Dhabi , United Arab Emirates"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"ORCID":"https:\/\/orcid.org\/0000-0002-5605-4839","authenticated-orcid":false,"given":"Amr","family":"Morsi","sequence":"additional","affiliation":[{"name":"432720 Imperial College London Diabetes Centre , Abu Dhabi , United Arab Emirates"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Sherif","family":"El-Refee","sequence":"additional","affiliation":[{"name":"432720 Imperial College London Diabetes Centre , Abu Dhabi , United Arab Emirates"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Sara","family":"Suliman","sequence":"additional","affiliation":[{"name":"432720 Imperial College London Diabetes Centre , Abu Dhabi , United Arab Emirates"}],"role":[{"role":"author","vocabulary":"crossref"}]}],"member":"374","published-online":{"date-parts":[[2024,9,12]]},"reference":[{"key":"2024120212075765301_j_jpem-2024-0244_ref_001","doi-asserted-by":"crossref","unstructured":"Ogawa, W, Araki, E, Ishigaki, Y, Hirota, Y, Maegawa, H, Yamauchi, T, et al.. 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