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Journal of Clinical Endocrinology & Metabolism, Vol 80, 3442-3446, Copyright © 1995 by Endocrine Society

ARTICLES

An unusual type of familial lipodystrophy

K Johansen, MH Rasmussen, LL Kjems and A Astrup
Department of Endocrinology, Hvidovre Hospital, University of Copenhagen, Denmark.

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.


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