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Endocrine Abstracts

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ea0014p84 | (1) | ECE2007

Response to metformin treatment in adolescent siblings with familial partial lipodystrophy of the dunnigan variety (FPLD) due to the R482W LMNA gene mutation

Ryan James , Kiely Patrick , Crowley Vivion , Maher Michael , O’Connor Rosemary , O’Halloran 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...
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Published by BioScientifica

Endocrine Abstracts
ISSN 1470-3947 (print) | ISSN 1479-6848 (online)
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