{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,3,19]],"date-time":"2026-03-19T19:11:41Z","timestamp":1773947501449,"version":"3.50.1"},"reference-count":20,"publisher":"Korean Society of Pediatric Endocrinology","issue":"4","license":[{"start":{"date-parts":[[2021,10,14]],"date-time":"2021-10-14T00:00:00Z","timestamp":1634169600000},"content-version":"tdm","delay-in-days":0,"URL":"http:\/\/creativecommons.org\/licenses\/by-nc\/4.0\/"}],"content-domain":{"domain":["e-apem.org"],"crossmark-restriction":true},"short-container-title":["Ann Pediatr Endocrinol Metab"],"published-print":{"date-parts":[[2021,12,31]]},"abstract":"<jats:p>Severe hypertriglyceridemia (HTG) (&gt;885 mg\/dL) can be caused by familial partial lipodystrophy type 3 (FPLD3), an autosomal dominant disorder caused by loss of function of the peroxisome proliferator-activated receptor gamma (PPARG), characterized by abnormal distribution of fat and metabolic derangements. This case reports a 16-year-old female (body mass index, 23.5 kg\/m2) hospitalized twice for pancreatitis (triglycerides [TG] level &gt;2,200 mg\/dL). Her treatment management included bowel rest, insulin infusion, and plasmapheresis. A low-fat diet with 10 g of fat daily and 160 mg of fenofibrate daily decreased fasting TG to 411 mg\/dL (range, 0\u2013149 mg\/dL). The patient had a normal leptin level. Panel testing of genes that impact TG metabolism revealed a known pathogenic variant in the PPARG gene (c.452A&gt;G p.Tyr151Cys). A second variant detected in this gene, c.1003G&gt;C (p.Val335Leu), is considered benign. Her glycosylated hemoglobin of 6.6% and 2-hour oral glucose tolerance test confirmed type 2 diabetes mellitus (T2DM). This study reports the earliest detection of T2DM in an adolescent with a pathogenic variant of PPARG. PPARG-related FPLD3 should be considered in lean children that present with severe HTG and insulin resistance, and subsequent treatment with proliferator-activated receptor gamma agonists, specifically thiazolidinediones, should be considered.<\/jats:p>","DOI":"10.6065\/apem.2142056.028","type":"journal-article","created":{"date-parts":[[2021,10,14]],"date-time":"2021-10-14T14:00:23Z","timestamp":1634220023000},"page":"284-289","update-policy":"https:\/\/doi.org\/10.6065\/crossmark_policy","source":"Crossref","is-referenced-by-count":5,"title":["Genotype - phenotype correlation in an adolescent girl with pathogenic PPARy genetic variation that caused severe hypertriglyceridemia and early onset type 2 diabetes"],"prefix":"10.6065","volume":"26","author":[{"given":"Ana","family":"Gutierrez Alvarez","sequence":"first","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Naomi","family":"Yachelevich","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Brenda","family":"Kohn","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"ORCID":"https:\/\/orcid.org\/0000-0002-6065-8328","authenticated-orcid":true,"given":"Preneet Cheema","family":"Brar","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]}],"member":"4096","reference":[{"key":"ref1","doi-asserted-by":"publisher","DOI":"10.1038\/ng0398-292"},{"key":"ref2","doi-asserted-by":"publisher","DOI":"10.1038\/47254"},{"key":"ref3","doi-asserted-by":"publisher","DOI":"10.1056\/nejmoa1007487"},{"key":"ref4","doi-asserted-by":"publisher","DOI":"10.2337\/diabetes.47.4.507"},{"key":"ref5","first-page":"2654","volume-title":"Mice lacking adiponectin show decreased hepatic insulin sensitivity and reduced responsiveness to peroxisome proliferator-activated receptor gamma agonists","author":"Nawrocki","year":"2006"},{"key":"ref6","doi-asserted-by":"publisher","DOI":"10.1007\/s00125-011-2142-4"},{"key":"ref7","doi-asserted-by":"publisher","DOI":"10.1016\/j.metabol.2017.04.010"},{"key":"ref8","first-page":"13127","volume-title":"Rare variants in <italic>PPARG<\/italic> with decreased activity in adipocyte differentiation are associated with increased risk of type 2 diabetes","author":"Majithia","year":"2014"},{"key":"ref9","doi-asserted-by":"publisher","DOI":"10.1038\/gim.2015.30"},{"key":"ref10","doi-asserted-by":"publisher","DOI":"10.1016\/j.bbalip.2019.02.002"},{"key":"ref11","doi-asserted-by":"publisher","DOI":"10.1038\/ng.3700"},{"key":"ref12","doi-asserted-by":"publisher","DOI":"10.1016\/s2213-8587(13)70191-8"},{"key":"ref13","doi-asserted-by":"publisher","DOI":"10.1111\/joim.12925"},{"key":"ref14","doi-asserted-by":"publisher","DOI":"10.1093\/qjmed\/hcs238"},{"key":"ref15","doi-asserted-by":"publisher","DOI":"10.1067\/mlc.2001.117666"},{"key":"ref16","doi-asserted-by":"publisher","DOI":"10.2337\/diacare.26.5.1350"},{"key":"ref17","first-page":"910","volume-title":"Human metabolic syndrome resulting from dominant-negative mutations in the nuclear receptor peroxisome proliferator-activated receptor-gamma","author":"Savage","year":"2003"},{"key":"ref18","first-page":"3","volume-title":"Peroxisomal proliferator activated receptor-gamma deficiency in a Canadian kindred with familial partial lipodystrophy type 3 (FPLD3)","author":"Francis","year":"2006"},{"key":"ref19","doi-asserted-by":"publisher","DOI":"10.1111\/dme.13061"},{"key":"ref20","doi-asserted-by":"publisher","DOI":"10.2337\/db17-1236"}],"container-title":["Annals of Pediatric Endocrinology &amp; 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