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Endocrine Abstracts (2021) 73 AEP648 | DOI: 10.1530/endoabs.73.AEP648

1Bichat Hospital, Department of Diabetology Endocrinology and Nutrition, Paris, France; 2Necker Hospital, Nephrology department, Paris, France; 3Bichat Hospital, Otorinolaryngology Department, Paris, France

Leucinosis also called Maple syrup urine disease (MSUD) is a rare inherited disorder of branched-chain amino acid metabolism classically characterized by poor feeding, lethargy, vomiting and a maple syrup odor in urine with an evolution to encephalopathy and central respiratory failure if untreated. When diagnosed at birth, treatment is based on nutrition therapy aiming at rapidly reducing of toxic metabolites through dietary restriction, shifting towards and preventing or minimizing endogenous protein catabolism. Any state of catabolism can cause leucinosis’ decompensation: intercurrent infectious disease, fever, anorexia, vomiting, surgery, excess protein instake. We report a case of MSUD decompensated by hyperthyroidism with complex management. A 20 years old woman had a family history of leucinosis and a diagnosis of MSUD at birth. At 13, an hyperthyroidism caused by Graves’ disease was diagnosed. She was treated by carbimazole for 7 years with relapses when decreasing treatment. Between September and October 2020, she experienced 3 successive hospitalizations for middle to major leucinosis decompensations due to thyrotoxicosis occurring despite an increase to maximal doses of carbimazole and use of ursodeoxycholic acid. Therapeutical options were limited by formal contraindication to use corticoid, poor experience with radioactive iodine therapy and difficulties to organize surgery with strict metabolic conditions. However, after a multidisciplinary discussion, surgery was chosen as a radical treatment due to the major risk of new decompensation. Leucinosis is a very rare disease and its association to hyperthyroidism was never reported before.

Volume 73

European Congress of Endocrinology 2021

22 May 2021 - 26 May 2021

European Society of Endocrinology 

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