ea0014p84 | (1) | ECE2007
Ryan James
, Kiely Patrick
, Crowley Vivion
, Maher Michael
, OConnor Rosemary
, OHalloran Domhnaill
FPLD is a rare monogenic cause of insulin resistance. We document responses to treatment with metformin in 2 adolescent sisters with FPLD due to heterozygosity for R482W LMNA gene mutation.The probands, aged 14 and 16 years, presented with secondary amenorrhoea, hirsutism and progressive acanthosis nigricans. Phenotypically they showed central obesity, nuchal enlargement, and thin muscular arms. These changes occurred post-pubertally. Anthrpometri...