ArticleDiabetology & metabolic syndrome2016
Clinical and laboratory data of a large series of patients with congenital generalized lipodystrophy.
Article in Diabetology & metabolic syndrome, 2016. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 30 papers.
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Who cites it
30 citing papers in PubMed, 56 citations in OpenAlex.
- Effect of metreleptin treatment in congenital generalized lipodystrophy: a retrospective analysis from the MENA region.Journal of endocrinological investigation · 2026Observational
- Pathways to improving the awareness, diagnosis and management of lipodystrophy in Brazil: an expert panel discussion.Diabetology & metabolic syndrome · 2025Review
- A Rare Case of Congenital Generalized Lipodystrophy.Cureus · 2024Article
- Impaired signaling pathways on Berardinelli-Seip congenital lipodystrophy macrophages during Leishmania infantum infection.Scientific reports · 2024Article
- Analysis of disease characteristics of a large patient cohort with congenital generalized lipodystrophy from the Middle East and North Africa.Orphanet journal of rare diseases · 2024Article
- Familial partial lipodystrophy resulting from loss-of-function PPARγ pathogenic variants: phenotypic, clinical, and genetic features.Frontiers in endocrinology · 2024Review
- Identifying congenital generalized lipodystrophy using deep learning-DEEPLIPO.Scientific reports · 2023Article
- Impaired functional exercise capacity and greater cardiovascular response to the 6-min walk test in congenital generalized lipodystrophy.BMC cardiovascular disorders · 2022Article
- Congenital generalized lipodystrophy in two siblings from Saudi Arabia: A case report.Clinical case reports · 2022Article
- DNA repair-related genes and adipogenesis: Lessons from congenital lipodystrophies.Genetics and molecular biology · 2022Article
- Bone Mineral Density in Congenital Generalized Lipodystrophy: The Role of Bone Marrow Tissue, Adipokines, and Insulin Resistance.International journal of environmental research and public health · 2021Review
- SARS-COV-2 infection outcomes in patients with congenital generalized lipodystrophy.Diabetology & metabolic syndrome · 2021Article
- Targeted massively parallel sequencing for congenital generalized lipodystrophy.Archives of endocrinology and metabolism · 2021Article
- Severe insulin resistance syndromes.The Journal of clinical investigation · 2021Review
- Misdiagnosis of Paget's Disease of Bone in a Congenital Generalized Lipodystrophy Patient: Case Report.Frontiers in endocrinology · 2021Article
- Altered acylated ghrelin response to food intake in congenital generalized lipodystrophy.PloS one · 2021Article
- Focus on progressive myoclonic epilepsy in Berardinelli-Seip syndrome.Neurological sciences : official journal of the Italian Neurological Society and of the Italian Society of Clinical Neurophysiology · 2020Article
- [Multiple subcutaneous nodules for 46 days in an infant aged 66 days].Zhongguo dang dai er ke za zhi = Chinese journal of contemporary pediatrics · 2020Article
- Novel compound heterozygous variant of BSCL2 identified by whole exome sequencing and multiplex ligation‑dependent probe amplification in an infant with congenital generalized lipodystrophy.Molecular medicine reports · 2020Article
- Leu124Serfs*26, a novelDiabetology & metabolic syndrome · 2020Article
Corrections and comments
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Authors and funding
6 authors at 2 institutions in 1 country.
Funding
No grant is acknowledged in the PubMed record.
Abstract
backgroundBerardinelli-Seip congenital lipodystrophy (BSCL) was initially described by Berardinelli in Brazil in 1954 and 5 years later by Seip in Norway. It is an autosomal recessive disease that leads to a generalized deficit of body fat, evolving with diabetes and hypertriglyceridemia. The aim of this study was to describe the clinical and laboratory characteristics of a large series of patients with BSCL.
methodsThis is a cross-sectional study of patients with BSCL. A total of 54 cases of BSCL were diagnosed, treated and followed for the past 17 years. We report clinical and laboratorial data of 44 of those patients.
resultsThere was a predominance of female patients (27 patients), and the mean age was 21.3 ± 13.7 years old. The majority of patients (30/44; 68.2 %) were diabetic, and almost half of them (14/30 patients, 46.7 %) were on insulin. The mean body mass index was 19.6 ± 3.3 and the mean body fat measured by dual-energy X-ray absorptiometry (DEXA) was 5.4 ± 0.8 %. Acanthosis nigricans, acromegaloid facies, atrophic cheeks, prognathism, phlebomegaly, and muscle hypertrophy were the most common clinical features. Only two patients had triglyceridemia lower than 150 mg/dl without the use of lipid-lowering drugs. Hyperinsulinemia was present in the majority of patients, and leptin values were very low in all patients.
conclusionsWe report one of the largest series of patients with BSCL treated at a single medical center. Earlier identification of the mutations and a better understanding of the pathophysiology can aid to better treatment and decrease complications, potentially improving life quality and expectancy.
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