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.

Abstract excerpt

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,...

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