Camille Gosseaume, Thierry Fournier, Isabelle Jéru, Marie-Léone Vignaud, Isabelle Missotte, Françoise Archambeaud, Xavier Debussche, Céline Droumaguet, Bruno Fève, Sophie Grillot, Bruno Guerci, Sylvie Hieronimus, Yves Horsmans, Estelle Nobecourt, Catherine Pienkowski, Christine Poitou, Jean-Paul Thissen, Olivier Lascols, Séverine Degrelle, Vassilis Tsatsaris, Corinne Vigouroux, Camille Vatier
OBJECTIVE: The adipogenic PPARG-encoded PPARγ nuclear receptor also display essential placental functions. We evaluated metabolic, reproductive and perinatal features of patients with PPARG-related lipodystrophy. METHODS: Current and retrospective data were collected in patients referred to a National Rare Diseases Reference Centre. RESULTS: 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...
February 21, 2023: European Journal of Endocrinology