title: Clinical and laboratory data of a large series of patients with congenital generalized lipodystrophy.
abstract: BACKGROUND
  Berardinelli-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.
  
  
  METHODS
  This 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.
  
  
  RESULTS
  There 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.
  
  
  CONCLUSIONS
  We 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.
authors.affiliation: Departamento de Medicina Clínica, Hospital Universitário Onofre Lopes (HUOL)/UFRN, Av. Nilo Peçanha, 620 - Petrópolis, Natal, RN 59012-300 Brazil ; Health Graduate Program, Natal, Brazil.
authors.forename: Josivan G
authors.identifier: 0000-0002-1627-7018
authors.initials: JG
authors.lastname: Lima
authors.affiliation: Departamento de Medicina Clínica, Hospital Universitário Onofre Lopes (HUOL)/UFRN, Av. Nilo Peçanha, 620 - Petrópolis, Natal, RN 59012-300 Brazil.
authors.forename: Lucia Helena C
authors.initials: LH
authors.lastname: Nobrega
authors.affiliation: Departamento de Medicina Clínica, Hospital Universitário Onofre Lopes (HUOL)/UFRN, Av. Nilo Peçanha, 620 - Petrópolis, Natal, RN 59012-300 Brazil.
authors.forename: Natalia Nobrega
authors.initials: NN
authors.lastname: de Lima
authors.affiliation: Departamento de Análises Clínicas e Toxicológicas, UFRN, Natal, Brazil.
authors.forename: Maria Goretti
authors.initials: MG
authors.lastname: do Nascimento Santos
authors.affiliation: Departamento de Medicina Clínica, Hospital Universitário Onofre Lopes (HUOL)/UFRN, Av. Nilo Peçanha, 620 - Petrópolis, Natal, RN 59012-300 Brazil.
authors.forename: Maria F P
authors.initials: MF
authors.lastname: Baracho
authors.affiliation: Instituto de Medicina Tropical do Rio Grande do Norte, Natal, Brazil ; Departamento de Bioquímica, Centro de Biociências, Universidade Federal do Rio Grande do Norte, Natal, RN Brazil ; Institute of Science and Technology of Tropical Diseases, INCT-DT, Salvador, Brazil.
authors.forename: Selma Maria Bezerra
authors.initials: SM
authors.lastname: Jeronimo
keywords: Berardinelli-Seip; Diabetes; Insulin resistance; Lipodystrophy