An unusual type of familial lipodystrophy.
A mother and her daughter with a novel type of familial partial lipodystrophy were studied. Both had atrophy of fat in the face, chest, and upper and lower limbs and abdominal obesity caused by intraabdominal fat accumulation. The mother had severe insulin resistance and impaired glucose tolerance, whereas the daughter had normal glucose tolerance and normal insulin sensitivity. Both had metabolic rates about 30% above normal levels, but normal thyroid function and plasma lipids.
Department of Endocrinology, Hvidovre Hospital, University of Copenhagen, Denmark.
K
K
Johansen
M H
MH
Rasmussen
L L
LL
Kjems
A
A
Astrup
D000005:Abdomen; D000273:Adipose Tissue / Q000473:pathology; D000328:Adult; D001284:Atrophy; D001823:Body Composition; D004734:Energy Metabolism; D005121:Extremities; D005145:Face; D005260:Female; D018149:Glucose Intolerance; D006801:Humans; D007333:Insulin Resistance; D007334:Insulin-Like Growth Factor I / Q000032:analysis; D008060:Lipodystrophy / Q000235:genetics* / Q000473:pathology / Q000503:physiopathology; D008875:Middle Aged; D009765:Obesity / Q000235:genetics / Q000473:pathology; D013909:Thorax
D007334:Insulin-Like Growth Factor I