Get 20M+ Full-Text Papers For Less Than $1.50/day. Start a 7-Day Trial for You or Your Team.

Learn More →

Familial Lipoatrophic Diabetes with Dominant TransmissionA NEW SYNDROME

Familial Lipoatrophic Diabetes with Dominant TransmissionA NEW SYNDROME Abstract Several members of two families were found to have an unusual form of lipoatrophy extending over three generations. The propositus of the first family, a girl of 19 years, showed symmetrical lipoatrophy of the trunk and limbs with a rounded, full face, tubero-eruptive xanthomata, acanthosis nigricans, insulin-resistant diabetes and Type V hyperlipidaemia. Her mother and maternal aunt showed symmetrical lipoatrophy, sparing the face, and diabetes mellitus. The latter also exhibited acanthosis nigricans and Type V hyperlipidaemia. The grandmother and maternal great-aunt of the propositus were said to have had a similar form of lipoatrophy, but were not known to be diabetic. The propositus of the second family, a woman of 49 years, also showed symmetrical lipoatrophy of the trunk and limbs with a rounded, Cushingoid face. Laboratory investigations revealed mild Type V hyperlipidaemia, chemical diabetes, and high plasma insulin levels. The mother, grandmother, and three second cousins of the propositus were reported to have been similarly affected by lipoatrophy, but were not known to be diabetic. The syndrome of lipoatrophy, diabetes, and hyperlipidaemia found in the two families appears clinically and genetically distinct from those of acquired lipoatrophic diabetes, congenital total lipodystrophy, and progressive partial lipodystrophy and has not been hitherto described. Thepattern of inheritance is consistent with autosomal dominant transmission with variable expressivity. The geographical origins of the lipoatrophic trait in the nearby towns of Dingwall and Inverness suggest a common genetic source for the syndrome in the north of Scotland. This content is only available as a PDF. Author notes 1Part of the material in this paper was presented to the Medical and Scientific Section of the British Diabetic Association in York, April 1972. 2Present address: Biochemistry Department, Glasgow Royal Maternity Hospital. © Oxford University Press http://www.deepdyve.com/assets/images/DeepDyve-Logo-lg.png QJM: An International Journal of Medicine Oxford University Press

Familial Lipoatrophic Diabetes with Dominant TransmissionA NEW SYNDROME

Download PDF
16 pages

Loading next page...
 
/lp/oxford-university-press/familial-lipoatrophic-diabetes-with-dominant-transmissiona-new-XqZ00ELomU

References (0)

References for this paper are not available at this time. We will be adding them shortly, thank you for your patience.

Publisher
Oxford University Press
Copyright
© Oxford University Press
ISSN
1460-2725
eISSN
1460-2393
DOI
10.1093/oxfordjournals.qjmed.a067376
Publisher site
See Article on Publisher Site

Abstract

Abstract Several members of two families were found to have an unusual form of lipoatrophy extending over three generations. The propositus of the first family, a girl of 19 years, showed symmetrical lipoatrophy of the trunk and limbs with a rounded, full face, tubero-eruptive xanthomata, acanthosis nigricans, insulin-resistant diabetes and Type V hyperlipidaemia. Her mother and maternal aunt showed symmetrical lipoatrophy, sparing the face, and diabetes mellitus. The latter also exhibited acanthosis nigricans and Type V hyperlipidaemia. The grandmother and maternal great-aunt of the propositus were said to have had a similar form of lipoatrophy, but were not known to be diabetic. The propositus of the second family, a woman of 49 years, also showed symmetrical lipoatrophy of the trunk and limbs with a rounded, Cushingoid face. Laboratory investigations revealed mild Type V hyperlipidaemia, chemical diabetes, and high plasma insulin levels. The mother, grandmother, and three second cousins of the propositus were reported to have been similarly affected by lipoatrophy, but were not known to be diabetic. The syndrome of lipoatrophy, diabetes, and hyperlipidaemia found in the two families appears clinically and genetically distinct from those of acquired lipoatrophic diabetes, congenital total lipodystrophy, and progressive partial lipodystrophy and has not been hitherto described. Thepattern of inheritance is consistent with autosomal dominant transmission with variable expressivity. The geographical origins of the lipoatrophic trait in the nearby towns of Dingwall and Inverness suggest a common genetic source for the syndrome in the north of Scotland. This content is only available as a PDF. Author notes 1Part of the material in this paper was presented to the Medical and Scientific Section of the British Diabetic Association in York, April 1972. 2Present address: Biochemistry Department, Glasgow Royal Maternity Hospital. © Oxford University Press

Journal

QJM: An International Journal of Medicine – Oxford University Press

Published: Jan 1, 1974

There are no references for this article.