{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,6,22]],"date-time":"2026-06-22T04:49:32Z","timestamp":1782103772496,"version":"3.54.5"},"reference-count":14,"publisher":"Frontiers Media SA","license":[{"start":{"date-parts":[[2026,6,22]],"date-time":"2026-06-22T00:00:00Z","timestamp":1782086400000},"content-version":"vor","delay-in-days":0,"URL":"https:\/\/creativecommons.org\/licenses\/by\/4.0\/"}],"funder":[{"DOI":"10.13039\/501100008678","name":"Universit\u00e4t Leipzig","doi-asserted-by":"publisher","id":[{"id":"10.13039\/501100008678","id-type":"DOI","asserted-by":"publisher"}]}],"content-domain":{"domain":["frontiersin.org"],"crossmark-restriction":true},"short-container-title":["Front. Endocrinol."],"abstract":"<jats:p>\n                    Familial partial lipodystrophy (FPLD) is a rare genetic syndrome characterised by persistent, selective loss of adipose tissue and is closely associated with severe metabolic disturbances. Pregnancy in women with FPLD is associated with a high risk for both mother and foetus, while clinical experience remains very limited. Evidence from case reports and small series is essential for risk stratification, multidisciplinary management, and optimization of maternal and foetal health. Here, we report the case of a woman at 18 weeks of gestation with very severe hypertriglyceridaemia complicated by acute pancreatitis. The patient had a history of young-onset diabetes mellitus, hypertension, polycystic ovary syndrome (PCOS) and previously known hypertriglyceridaemia, accompanied by characteristic loss of gluteofemoral and lower limb adipose tissue, raising the clinical suspicion of FPLD. Molecular genetic analysis was performed using next-generation sequencing-based gene panel diagnostics. Variants were described according to Human Genome Variation Society (HGVS) nomenclature and classified according to the American College of Medical Genetics and genomics\/Association for Molecular Pathology (ACMG\/AMP) guidelines. We made the initial diagnosis of severe FPLD3 syndrome and detected a novel heterozygous c.380A&amp;gt;C, p.(Glu127Ala) variant in the peroxisome proliferator-activated receptor gamma gene (\n                    <jats:italic>PPARG<\/jats:italic>\n                    ), classified as likely pathogenic and considered causative for the patient\u00b4s phenotype. In addition, a heterozygous variant of uncertain significance c.328G&amp;gt;A, p.(Ala110Thr) in the ATP-binding cassette transporter sub-family C member 8 gene (\n                    <jats:italic>ABCC8<\/jats:italic>\n                    ), was detected. High-dose intensive insulin therapy in combination with metformin and omega-3 fatty acids resulted in a marked reduction in triglyceride levels, normalised blood glucose levels until delivery and avoided further episodes of pancreatitis. Early recognition of FPLD is crucial, particularly in high-risk settings such as pregnancy. Intensive, multidisciplinary metabolic management can stabilize severe metabolic complications and may enable favourable maternal and foetal outcomes.\n                  <\/jats:p>","DOI":"10.3389\/fendo.2026.1855679","type":"journal-article","created":{"date-parts":[[2026,6,22]],"date-time":"2026-06-22T04:35:12Z","timestamp":1782102912000},"update-policy":"https:\/\/doi.org\/10.3389\/crossmark-policy","source":"Crossref","is-referenced-by-count":0,"title":["First diagnosis of familial partial lipodystrophy syndrome type 3 during pregnancy associated with a novel heterozygous PPARG variant and a concurrent ABCC8 variant: a case report"],"prefix":"10.3389","volume":"17","author":[{"given":"Andreas","family":"Holstein","sequence":"first","affiliation":[{"name":"Department of Gastroenterology, University Hospital for Ostwestfalen-Lippe","place":["Klinikum Lippe, Detmold, Germany"]}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Ingy","family":"Jabri","sequence":"additional","affiliation":[{"name":"Department of Gynaecology and Obstetrics, University Hospital for Ostwestfalen-Lippe","place":["Klinikum Lippe, Detmold, Germany"]}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Jonas A.","family":"Linck","sequence":"additional","affiliation":[{"name":"Department of Urology and Paediatric Urology, Christliches Klinikum Paderborn","place":["Paderborn, Germany"]}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Anke","family":"T\u00f6njes","sequence":"additional","affiliation":[{"name":"Department of Medicine III, Division of Endocrinology, Nephrology and Rheumatology, University Hospital Leipzig","place":["Leipzig, Germany"]},{"name":"Leipzig Center of Metabolism (LeiCeM), Leipzig University","place":["Leipzig, Germany"]}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"David J. F.","family":"Holstein","sequence":"additional","affiliation":[{"name":"Department of Vascular and Endovascular Surgery, Evangelisches Diakonissenkrankenhaus Leipzig","place":["Leipzig, Germany"]}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Peter","family":"Kovacs","sequence":"additional","affiliation":[{"name":"Department of Medicine III, Division of Endocrinology, Nephrology and Rheumatology, University Hospital Leipzig","place":["Leipzig, Germany"]}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Luise","family":"Pirlich","sequence":"additional","affiliation":[{"name":"Department of Medicine III, Division of Endocrinology, Nephrology and Rheumatology, University Hospital Leipzig","place":["Leipzig, Germany"]},{"name":"Leipzig Center of Metabolism (LeiCeM), Leipzig University","place":["Leipzig, Germany"]}],"role":[{"vocabulary":"crossref","role":"author"}]}],"member":"1965","published-online":{"date-parts":[[2026,6,22]]},"reference":[{"key":"B1","doi-asserted-by":"publisher","DOI":"10.3389\/fendo.2024.1394102","article-title":"Familial partial lipodystrophy resulting from loss-of-function PPAR\u03b3 pathogenic variants: phenotypic, clinical, and genetic features","volume":"15","author":"Soares","year":"2024","journal-title":"Front Endocrinol (Lausanne)"},{"key":"B2","doi-asserted-by":"publisher","DOI":"10.1186\/s13098-025-01733-5","article-title":"Brazilian expert consensus on the diagnosis, classification, screening for complications and treatment of familial partial lipodystrophy","volume":"17","author":"Valerio","year":"2025","journal-title":"Diabetol Metab Syndr"},{"key":"B3","doi-asserted-by":"publisher","DOI":"10.3390\/ijms241512045","article-title":"Familial partial lipodystrophy: clinical features, genetics and treatment in a Greek referral center","volume":"24","author":"Kountouri","year":"2023","journal-title":"Int J Mol Sci"},{"key":"B4","doi-asserted-by":"publisher","DOI":"10.1210\/jc.2016-2466","article-title":"The\u00a0diagnosis and management of lipodystrophy syndromes: a multi-society practice guideline","volume":"101","author":"Brown","year":"2016","journal-title":"J Clin Endocrinol Metab"},{"key":"B5","doi-asserted-by":"publisher","DOI":"10.4158\/EP11229.OR","article-title":"Clinical effects of long-term metreleptin treatment in patients with lipodystrophy","volume":"17","author":"Chan","year":"2011","journal-title":"Endocr Pract"},{"key":"B6","doi-asserted-by":"publisher","first-page":"190","DOI":"10.1210\/er.2015-1116","article-title":"Monogenic diabetes: what it teaches us on the common forms\u00a0of\u00a0type 1 and type 2 diabetes","volume":"37","author":"Yang","year":"2016","journal-title":"Endocr 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Med"},{"key":"B10","doi-asserted-by":"publisher","DOI":"10.1016\/j.diabet.2012.02.012","article-title":"Vascular placental\u00a0abnormalities and newborn death in a pregnant diabetic woman with familial partial lipodystrophy type 3: a possible role for peroxisome proliferator-activated receptor \u03b3","volume":"38","author":"Castell","year":"2012","journal-title":"Diabetes Metab"},{"key":"B11","doi-asserted-by":"publisher","DOI":"10.1093\/ejendo\/lvad023","article-title":"Perinatal, metabolic, and reproductive features in PPARG-related lipodystrophy","volume":"188","author":"Gosseaume","year":"2023","journal-title":"Eur J Endocrinol"},{"key":"B12","doi-asserted-by":"publisher","DOI":"10.1210\/jc.2007-2521","article-title":"Fertility and obstetrical complications in women with LMNA-related familial partial lipodystrophy","volume":"93","author":"Vantyghem","year":"2008","journal-title":"J Clin Endocrinol Metab"},{"key":"B13","doi-asserted-by":"publisher","DOI":"10.3389\/fendo.2024.1359025","article-title":"Gestational and neonatal outcomes of women with partial Dunnigan lipodystrophy","volume":"15","author":"Valerio","year":"2024","journal-title":"Front Endocrinol (Lausanne)"},{"key":"B14","doi-asserted-by":"publisher","DOI":"10.14341\/DM13333","article-title":"A clinical case of pregnancy of a patient with a combination of two orphan diseases: familial partial lipodystrophy type 4 and HNF1A-MODY on the background of therapy with recombinant human methionyl leptin","volume":"28","author":"Frolkova","year":"2025","journal-title":"Diabetes mellitus"}],"container-title":["Frontiers in 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