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Endocrine Abstracts (2013) 32 P812 | DOI: 10.1530/endoabs.32.P812

Federal University of Rio Grande do Norte, Natal, Rio Grande do Norte, Brazil.


Metabolic liver dysfunction can be a causative factor for morbity and mortality in Berardinelli–Seip syndrome patients. We evaluated hepatic function in 29 Berardinelli–Seip patients. Diabetes mellitus (DM) was present in 23 of them. We analyzed biochemical parameters including AST, ALT, GGT, ALP levels and liver non invasive imaging aspects. The liver was graded as normal, mild, moderate, or severe hepatic steatosis.

Results: We could not find significant correlation of DM diagnosis and dysfunction hepatic and steatosis. However we observed that time of diagnosis in these Berardinelli–Seip individuals showed relation to degrees of steatosis (P=0.004). It seems that the duration of clinical disease is more important than DM diagnosis regarding steatosis severity in these individuals.

Metabolic liver dysfunction can be a causative factor for morbity and mortality in Berardinelli–Seip syndrome patients. We evaluated hepatic function in 29 Berardinelli–Seip patients. Diabetes mellitus (DM) was present in 23 of them. We analyzed biochemical parameters including AST, ALT, GGT, ALP levels and liver non invasive imaging aspects. The liver was graded as normal, mild, moderate, or severe hepatic steatosis.

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