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Article

Berardinelli-Seip syndrome.

Endokrynologia Polska - 1 Jan 2026

Yordanova Savelia Gavrailova, Todorova Zdravka, Gateva Antoaneta, Karamfilova Vera, Archinkova Margarita, Kamenov Zdravko, Assyov Yavor

Abstract excerpt

Berardinelli-Seip syndrome, also known as congenital generalized lipodystrophy (CGL), is a rare genetic disorder characterized by lipoatrophy, acromegaloid features, hyperinsulinemia, hypertriglyceridemia, and hepatic steatosis. With estimated prevalence 1 in every 10,000,000 births, CGL challenges medical specialists to seek better ways for early diagnosis of the disease. Despite its rarity, the condition is...

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Identifiers

PMID: 41841805
DOI: 10.5603/ep.108324

Genes

AGPAT2
BSCL2
CAV1

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PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 7 Sept 2026.

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