An unusual type of familial lipodystrophy.

Johansen, K; Rasmussen, M H; Kjems, L L; Astrup, A · J Clin Endocrinol Metab · 1995

case_report · Level V

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Abstract

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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