{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,6,22]],"date-time":"2026-06-22T13:35:48Z","timestamp":1782135348338,"version":"3.54.5"},"reference-count":40,"publisher":"Oxford University Press (OUP)","issue":"3","license":[{"start":{"date-parts":[[2023,2,21]],"date-time":"2023-02-21T00:00:00Z","timestamp":1676937600000},"content-version":"vor","delay-in-days":0,"URL":"https:\/\/academic.oup.com\/pages\/standard-publication-reuse-rights"}],"funder":[{"name":"French Ministry of Solidarity and Health"},{"name":"Assistance-Publique H\u00f4pitaux de Paris"},{"DOI":"10.13039\/501100019125","name":"Sorbonne University","doi-asserted-by":"crossref","id":[{"id":"10.13039\/501100019125","id-type":"DOI","asserted-by":"crossref"}]},{"DOI":"10.13039\/501100001677","name":"Inserm","doi-asserted-by":"crossref","id":[{"id":"10.13039\/501100001677","id-type":"DOI","asserted-by":"crossref"}]},{"name":"ICAN"},{"name":"Fondation pour la Recherche M\u00e9dicale, France"}],"content-domain":{"domain":[],"crossmark-restriction":false},"short-container-title":[],"published-print":{"date-parts":[[2023,3,2]]},"abstract":"<jats:title>Abstract<\/jats:title><jats:sec><jats:title>Objective<\/jats:title><jats:p>The adipogenic PPARG-encoded PPAR\u03b3 nuclear receptor also displays essential placental functions. We evaluated the metabolic, reproductive, and perinatal features of patients with PPARG-related lipodystrophy.<\/jats:p><\/jats:sec><jats:sec><jats:title>Methods<\/jats:title><jats:p>Current and retrospective data were collected in patients referred to a National Rare Diseases Reference Centre.<\/jats:p><\/jats:sec><jats:sec><jats:title>Results<\/jats:title><jats:p>26 patients from 15 unrelated families were studied (18 women, median age 43 years). They carried monoallelic PPARG variants except a homozygous patient with congenital generalized lipodystrophy. Among heterozygous patients aged 16 or more (n = 24), 92% had diabetes, 96% partial lipodystrophy (median age at diagnosis 24 and 37 years), 78% hypertriglyceridaemia, 71% liver steatosis, and 58% hypertension. The mean BMI was 26 \u00b1 5.0\u2005kg\/m2. Women (n = 16) were frequently affected by acute pancreatitis (n = 6) and\/or polycystic ovary syndrome (n = 12). Eleven women obtained one or several pregnancies, all complicated by diabetes (n = 8), hypertension (n = 4), and\/or hypertriglyceridaemia (n = 10). We analysed perinatal data of patients according to the presence (n = 8) or absence (n = 9) of a maternal dysmetabolic environment. The median gestational age at birth was low in both groups (37 and 36 weeks of amenorrhea, respectively). As expected, the birth weight was higher in patients exposed to a foetal dysmetabolic environment of maternal origin. In contrast, 85.7% of non-exposed patients, in whom the variant is, or is very likely to be, paternally-inherited, were small for gestational age.<\/jats:p><\/jats:sec><jats:sec><jats:title>Conclusions<\/jats:title><jats:p>Lipodystrophy-related PPARG variants induce early metabolic complications. Our results suggest that placental expression of PPARG pathogenic variants carried by affected foetuses could impair prenatal growth and parturition. This justifies careful pregnancy monitoring in affected families.<\/jats:p><\/jats:sec>","DOI":"10.1093\/ejendo\/lvad023","type":"journal-article","created":{"date-parts":[[2023,2,21]],"date-time":"2023-02-21T18:18:53Z","timestamp":1677003533000},"page":"273-281","source":"Crossref","is-referenced-by-count":17,"title":["Perinatal, metabolic, and reproductive features in<i>PPARG<\/i>-related lipodystrophy"],"prefix":"10.1093","volume":"188","author":[{"given":"Camille","family":"Gosseaume","sequence":"first","affiliation":[{"name":"Sorbonne University, Inserm U938, Saint-Antoine Research Centre, Institute of Cardiometabolism and Nutrition , Paris 75012 , France"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Thierry","family":"Fournier","sequence":"additional","affiliation":[{"name":"Universit\u00e9 Paris Cit\u00e9, Inserm, 3PHM, Pathophysiology and Pharmacotoxicology of the Human Placenta, Pre & Post Natal Microbiota , Paris, F-75006 , 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