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Phenotypic gender differences in subjects with familial partial lipodystrophy (Dunnigan variety) due to a nuclear lamin A/C R482W mutation.
Horm Metab Res. 2003 Jan; 35(1):29-35.HM

Abstract

Phenotypic features appeared after puberty in female, but not male subjects with familial partial lipodystrophy (FPLD). We have studied anthropometrical, clinical, and metabolic gender differences in a Spanish family with FPLD resulting from a lamin A/C gene mutation, R482W. Genetic studies were carried out on 14 members of the family. In eleven heterozygous mutation carriers (6 men, 5 women), body composition was evaluated by bioelectric impedance analysis, skin-fold measurements were taken, and lipid profiles were drawn. Moreover, plasma glucose, insulin, and leptin were determined, and insulin resistance and beta cell response were evaluated using HOMA. Ten healthy women and 10 healthy men matched for age and body mass index were used as control group. Body composition was similar in these patients to normal people. However, skin-folds of extremities were thinner in FPLD women compared with those of control subjects, but not in men. The affected women, but not men, showed hypoleptinaemia, insulin resistance, and beta-cell hyperresponse compared with unaffected women. The lipid profile was normal in the young patients, irrespective of sex. Type 2 diabetes mellitus and hypertriglyceridaemia were detected in old and overweight patients only. In conclusion, molecular diagnosis allows us to demonstrate that women with FPLD present both adipose tissue and biochemical abnormalities early in life, and this did not happen in affected men.

Authors+Show Affiliations

Servicio de Endocrinoloxía e Nutrición, Departamento de Medicina, University of Santiago de Compostela, Spain. david.araujo@ya.comNo affiliation info availableNo affiliation info availableNo affiliation info available

Pub Type(s)

Case Reports
Journal Article

Language

eng

PubMed ID

12669268

Citation

Araújo-Vilar, D, et al. "Phenotypic Gender Differences in Subjects With Familial Partial Lipodystrophy (Dunnigan Variety) Due to a Nuclear Lamin A/C R482W Mutation." Hormone and Metabolic Research = Hormon- Und Stoffwechselforschung = Hormones Et Metabolisme, vol. 35, no. 1, 2003, pp. 29-35.
Araújo-Vilar D, Loidi L, Domínguez F, et al. Phenotypic gender differences in subjects with familial partial lipodystrophy (Dunnigan variety) due to a nuclear lamin A/C R482W mutation. Horm Metab Res. 2003;35(1):29-35.
Araújo-Vilar, D., Loidi, L., Domínguez, F., & Cabezas-Cerrato, J. (2003). Phenotypic gender differences in subjects with familial partial lipodystrophy (Dunnigan variety) due to a nuclear lamin A/C R482W mutation. Hormone and Metabolic Research = Hormon- Und Stoffwechselforschung = Hormones Et Metabolisme, 35(1), 29-35.
Araújo-Vilar D, et al. Phenotypic Gender Differences in Subjects With Familial Partial Lipodystrophy (Dunnigan Variety) Due to a Nuclear Lamin A/C R482W Mutation. Horm Metab Res. 2003;35(1):29-35. PubMed PMID: 12669268.
* Article titles in AMA citation format should be in sentence-case
TY - JOUR T1 - Phenotypic gender differences in subjects with familial partial lipodystrophy (Dunnigan variety) due to a nuclear lamin A/C R482W mutation. AU - Araújo-Vilar,D, AU - Loidi,L, AU - Domínguez,F, AU - Cabezas-Cerrato,J, PY - 2003/4/2/pubmed PY - 2003/12/6/medline PY - 2003/4/2/entrez SP - 29 EP - 35 JF - Hormone and metabolic research = Hormon- und Stoffwechselforschung = Hormones et metabolisme JO - Horm Metab Res VL - 35 IS - 1 N2 - Phenotypic features appeared after puberty in female, but not male subjects with familial partial lipodystrophy (FPLD). We have studied anthropometrical, clinical, and metabolic gender differences in a Spanish family with FPLD resulting from a lamin A/C gene mutation, R482W. Genetic studies were carried out on 14 members of the family. In eleven heterozygous mutation carriers (6 men, 5 women), body composition was evaluated by bioelectric impedance analysis, skin-fold measurements were taken, and lipid profiles were drawn. Moreover, plasma glucose, insulin, and leptin were determined, and insulin resistance and beta cell response were evaluated using HOMA. Ten healthy women and 10 healthy men matched for age and body mass index were used as control group. Body composition was similar in these patients to normal people. However, skin-folds of extremities were thinner in FPLD women compared with those of control subjects, but not in men. The affected women, but not men, showed hypoleptinaemia, insulin resistance, and beta-cell hyperresponse compared with unaffected women. The lipid profile was normal in the young patients, irrespective of sex. Type 2 diabetes mellitus and hypertriglyceridaemia were detected in old and overweight patients only. In conclusion, molecular diagnosis allows us to demonstrate that women with FPLD present both adipose tissue and biochemical abnormalities early in life, and this did not happen in affected men. SN - 0018-5043 UR - https://www.unboundmedicine.com/medline/citation/12669268/Phenotypic_gender_differences_in_subjects_with_familial_partial_lipodystrophy__Dunnigan_variety__due_to_a_nuclear_lamin_A/C_R482W_mutation_ L2 - https://www.thieme-connect.com/DOI/DOI?10.1055/s-2003-38388 DB - PRIME DP - Unbound Medicine ER -