Abstract
A family is presented in which at least five members in three generations suffered a characteristic syndrome of generalised lipoatrophy, sparing the head and neck, and muscle hypertrophy variably associated with high plasma insulin and lipid levels and insulin resistant diabetes. This pedigree contains the first documented affected male with the syndrome. The diagnosis is of practical importance since close medical supervision of asymptomatic gene carriers is likely to improve their prognosis. The findings in this family have relevance also to the study of insulin and lipid metabolism.
Full text
PDF
Images in this article
Selected References
These references are in PubMed. This may not be the complete list of references from this article.
- Davidson M. B., Young R. T. Metabolic studies in familial partial lipodystrophy of the lower trunk and extremities. Diabetologia. 1975 Dec;11(6):561–568. doi: 10.1007/BF01222107. [DOI] [PubMed] [Google Scholar]
- Dunnigan M. G., Cochrane M. A., Kelly A., Scott J. W. Familial lipoatrophic diabetes with dominant transmission. A new syndrome. Q J Med. 1974 Jan;43(169):33–48. [PubMed] [Google Scholar]
- Köbberling J., Willms B., Kattermann R., Creutzfeldt W. Lipodystrophy of the extremities. A dominantly inherited syndrome associated with lipatrophic diabetes. Humangenetik. 1975 Sep 10;29(2):111–120. doi: 10.1007/BF00430347. [DOI] [PubMed] [Google Scholar]
- Wettke-Schäfer R., Kantner G. X-linked dominant inherited diseases with lethality in hemizygous males. Hum Genet. 1983;64(1):1–23. doi: 10.1007/BF00289472. [DOI] [PubMed] [Google Scholar]