We found a match
Your institution may have rights to this item. Sign in to continue.
- Title
Body Fat Distribution and Metabolic Derangements in Patients with Familial Partial Lipodystrophy Associated with Mandibuloacral Dysplasia.
- Authors
SIMHA, VINAYA; GARG, ABHIMANYU
- Abstract
Mandibuloacral dysplasia (MAD) is a rare autosomal recessive disorder that is characterized by mandibular and clavicular hypoplasia, acroosteolysis, delayed closure of cranial sutures, joint contractures, and mottled cutaneous pigmentation. It is also associated with partial lipodystrophy, but the pattern of fat loss has not been well characterized. We studied body fat distribution in two male and two female patients with MAD by anthropometry, dual energy x-ray absorptiometry, and magnetic resonance imaging. Blood glucose and insulin responses during an oral glucose tolerance test and fasting serum lipoproteins were determined. Three of the four subjects had loss of sc fat from the extremities with normal or slight excess in the neck and truncal regions (termed type A pattern). In contrast, one patient had generalized loss of sc fat involving the face, trunk, and extremities (type B pattern). All of the patients had normal glucose tolerance but had fasting and postprandial hyperinsulinemia suggestive of insulin resistance. Elevated serum triglycerides with low high-density lipoprotein cholesterol levels were noted in three subjects. We conclude that familial partial lipodystrophy associated with MAD presents with two types of body fat distribution patterns, both of which are associated with insulin resistance and its metabolic complications.
- Publication
Journal of Clinical Endocrinology & Metabolism, 2002, Vol 87, Issue 2, p776
- ISSN
0021-972X
- Publication type
Article
- DOI
10.1210/jcem.87.2.8258