title: Severe insulin resistance and diabetes mellitus in mandibuloacral dysplasia.
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 insulin-resistant diabetes mellitus.
authors.affiliation: Department of Pediatrics, University of California, San Diego.
authors.forename: G R
authors.initials: GR
authors.lastname: Freidenberg
authors.forename: D L
authors.initials: DL
authors.lastname: Cutler
authors.forename: M C
authors.initials: MC
authors.lastname: Jones
authors.forename: B
authors.initials: B
authors.lastname: Hall
authors.forename: R J
authors.initials: RJ
authors.lastname: Mier
authors.forename: F
authors.initials: F
authors.lastname: Culler
authors.forename: K L
authors.initials: KL
authors.lastname: Jones
authors.forename: C
authors.initials: C
authors.lastname: Lozzio
authors.forename: S
authors.initials: S
authors.lastname: Kaufmann
mesh_terms: D000015:Abnormalities, Multiple; D000293:Adolescent; D000328:Adult; D002784:Cholesterol / Q000097:blood; D002968:Clavicle / Q000002:abnormalities*; D003286:Contracture; D003920:Diabetes Mellitus / Q000097:blood / Q000209:etiology* / Q000235:genetics; D005947:Glucose / Q000378:metabolism; D006801:Humans; D007328:Insulin / Q000097:blood; D007333:Insulin Resistance / Q000235:genetics; D007596:Joints / Q000002:abnormalities*; D008060:Lipodystrophy / Q000150:complications* / Q000235:genetics / Q000378:metabolism; D008297:Male; D008334:Mandible / Q000002:abnormalities*; D010375:Pedigree; D012867:Skin / Q000473:pathology; D013577:Syndrome; D014280:Triglycerides / Q000097:blood
chemical_list: D007328:Insulin; D014280:Triglycerides; D002784:Cholesterol; D005947:Glucose