Perinatal, metabolic, and reproductive features in PPARG-related lipodystrophy.

Camille GosseaumeThierry FournierIsabelle JéruMarie-Léone VignaudIsabelle MissotteFrançoise ArchambeaudXavier DebusscheCéline DroumaguetBruno FèveSophie GrillotBruno GuerciSylvie HieronimusYves HorsmansEstelle NobécourtCatherine PienkowskiChristine PoitouJean-Paul ThissenOlivier LascolsSéverine DegrelleVassilis Tstsaris Corinne Vigouroux Camille Vatier

Published in: European journal of endocrinology (2023)

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.

Keyphrases

pregnant women
copy number
poor prognosis
preterm birth
gene expression