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Severe Insulin Resistance and Diabetes Mellitus in Mandibuloacral Dysplasia
Gary R. Freidenberg, MD;
David L. Cutler, MD;
Marilyn C. Jones, MD;
Bryan Hall, MD;
Richard J. Mier, MD;
Floyd Culler, MD;
Kenneth L. Jones, MD;
Carmen Lozzio, MD;
Silvia Kaufmann, MD
Am J Dis Child. 1992;146(1):93-99.
Abstract
• Mandibuloacral dysplasia (MAD) is a syndrome with onset in midchildhood. The predominant characteristics of MAD include flexion contractures; mandibular hypoplasia; loss of body fat; atrophic, speckled skin; and progressive osteolysis of the clavicles. We studied three males with MAD. Each had lipodystrophy of the extremities, with sparing of the face and neck. All had moderate hyperlipidemia. In response to oral glucose, each had a diabetic response, with peak insulin levels between 2870 and 22 960 pmol/L. Insulin-stimulated glucose disposal was determined in two patients with MAD. At an insulin infusion rate of 120 mU/m2 per minute, glucose disposal was less than 25% of that measured at similar levels of insulinemia in nondiabetic control subjects, indicating marked insulin resistance in patients with MAD. The insulin resistance occurred without obesity, excessive levels of counterregulatory hormones, or anti-insulin-receptor antibodies. We suggest that MAD is a previously undescribed form of lipodystrophic insulinresistant diabetes mellitus.
(AJDC. 1992;146:93-99)
Author Affiliations
From the Departments of Pediatrics (Drs Freidenberg, M. Jones, K. Jones, and Kaufmann) and Medicine (Dr Cutler), University of California, San Diego; the Department of Pediatrics, University of Kentucky, Louisville (Drs Hall and Mier); the Department of Pediatrics, University of Tennessee, Knoxville (Dr Lozzio); and the Department of Pediatrics, Emory University, Atlanta, Ga (Dr Culler).
Footnotes
Accepted for publication October 7, 1991.
Presented in part at the Endocrine Society Meetings, Seattle, Wash, June 21, 1989.
Reprint requests to Indiana University, James Whitcomb Riley Children's Hospital, A-593, 702 Barnhill Dr, Indianapolis, IN 46202 (Dr Freidenberg).
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