title: Bone Density in Patients With Berardinelli-Seip Congenital Lipodystrophy Is Higher in Trabecular Sites and in Type 2 Patients.
abstract: Berardinelli-Seip congenital lipodystrophy (BSCL) is a rare autosomal recessive syndrome characterized by a difficulty storing lipid in adipocytes, low body fat, hypoleptinemia, and hyperinsulinemia. We report here laboratory, bone mineral density (BMD), and bone mineral content findings of 21 patients (24.1 ± 8.4 yr old, 14 females, 18 diabetics, 5.3% total body fat) with BSCL. The mean leptin was very low (0.91 ± 0.42 ng/mL), and the mean values of the Z-scores for all studied sites were positive, except for the 33% radius (Z-score -0.5 standard deviation [SD]). Twelve patients (57.1%) had a BMD Z-score higher than +2.5 SD in at least 1 site. There was no significant difference in the Z-scores between males and females. None of type 1 (AGPAT2) patients had Z-scores higher than +2.5 SD, and these patients had a smaller Z-score of BMD total body (0.26 SD vs 1.90 SD, p = 0.022) and of bone mineral content (1.59 SD vs 3.3 SD, p = 0.032) than type 2 (seipin) patients. Insulin, as well as HOMAIR(homeostasis model assessment), correlated positively with the BMD of all sites, except for the 33% radius. Z-Scores on this site (33% radius) were the smallest of all. More than half of our patients with BSCL have BMD Z-scores higher than +2.5 SD on at least 1 site, and this increase is more pronounced in the trabecular sites and in type 2 patients.
authors.affiliation: Departamento de Medicina Clínica, Hospital Universitário Onofre Lopes (HUOL), Natal, RN, Brazil; Health Graduate Program, Centro de Ciencias da Saúde, UFRN, Natal, RN, Brazil. Electronic address: josivanlima@gmail.com.
authors.forename: Josivan G
authors.initials: JG
authors.lastname: Lima
authors.affiliation: Departamento de Medicina Clínica, Hospital Universitário Onofre Lopes (HUOL), Natal, RN, Brazil.
authors.forename: Lucia Helena C
authors.initials: LHC
authors.lastname: Nobrega
authors.affiliation: Departamento de Medicina Clínica, Hospital Universitário Onofre Lopes (HUOL), Natal, RN, Brazil.
authors.forename: Natalia N
authors.initials: NN
authors.lastname: Lima
authors.affiliation: Departamento de Medicina Clínica, Hospital Universitário Onofre Lopes (HUOL), Natal, RN, Brazil.
authors.forename: Marcel C F
authors.initials: MCF
authors.lastname: Dos Santos
authors.affiliation: Departamento de Medicina Clínica, Hospital Universitário Onofre Lopes (HUOL), Natal, RN, Brazil.
authors.forename: Maria de Fatima P
authors.initials: MFP
authors.lastname: Baracho
authors.affiliation: Division of Endocrinology and Diabetes, University of Pernambuco Medical School, Recife, Brazil.
authors.forename: Francisco
authors.initials: F
authors.lastname: Bandeira
authors.affiliation: Instituto de Medicina Tropical do Rio Grande do Norte, Natal, RN, Brazil.
authors.forename: Leonardo
authors.initials: L
authors.lastname: Capistrano
authors.affiliation: Instituto de Medicina Tropical do Rio Grande do Norte, Natal, RN, Brazil.
authors.forename: Francisco Paulo
authors.initials: FP
authors.lastname: Freire Neto
authors.affiliation: Instituto de Medicina Tropical do Rio Grande do Norte, Natal, RN, 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), Natal, RN, Brazil.
authors.forename: Selma Maria B
authors.initials: SMB
authors.lastname: Jeronimo
mesh_terms: D000217:Acyltransferases / Q000235:genetics; D000293:Adolescent; D000328:Adult; D015519:Bone Density; D000071556:Cancellous Bone / Q000000981:diagnostic imaging* / Q000503:physiopathology; D005260:Female; D005270:Femur Head / Q000000981:diagnostic imaging; D005272:Femur Neck / Q000000981:diagnostic imaging; D044388:GTP-Binding Protein gamma Subunits / Q000235:genetics; D006706:Homeostasis; D006801:Humans; D007328:Insulin / Q000097:blood*; D007333:Insulin Resistance; D020738:Leptin / Q000097:blood*; D052497:Lipodystrophy, Congenital Generalized / Q000000981:diagnostic imaging* / Q000235:genetics / Q000503:physiopathology*; D008159:Lumbar Vertebrae / Q000000981:diagnostic imaging; D008297:Male; D011884:Radius / Q000000981:diagnostic imaging; D055815:Young Adult
chemical_list: C432679:BSCL2 protein, human; D044388:GTP-Binding Protein gamma Subunits; D007328:Insulin; D020738:Leptin; D000217:Acyltransferases; C018764:2-acylglycerophosphate acyltransferase
keywords: Bone mass; density; insulin; leptin; lipodystrophy