Abstract Search

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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ea0070oc4.7 | Pituitary and Neuroendocrinology | ECE2020

Fluid restriction results in a modest rise in plasma sodium concentration in chronic hyponatraemia due to SIAD; results of a prospective randomised controlled trial

Garrahy Aoife , Galloway Iona , Hannon Anne Marie , Dineen Rosemary , O’Kelly Patrick , Tormey William , O’Reilly Michael , Williams David , Sherlock Mark , Thompson Chris

Fluid restriction (FR) is the recommended first-line treatment for chronic hyponatraemia due to syndrome of inappropriate antidiuresis (SIAD) in expert guidelines, despite the lack of prospective data to support its efficacy. We aimed to test the hypothesis that FR was more effective than no treatment. 46 patients with chronic SIAD were randomised to either fluid restriction (1 litre/day, FR) or no specific hyponatraemia treatment (NoTx) for one month. Inclusion criteria were ...

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Endocrine Abstracts

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

Fluid restriction results in a modest rise in plasma sodium concentration in chronic hyponatraemia due to SIAD; results of a prospective randomised controlled trial

BiosciAbstracts