QJM, Vol 90, Issue 1 27-36, Copyright © 1997 by Oxford University Press
SN Jackson, TA Howlett, PG McNally, S O'Rahilly and RC Trembath
Dunnigan-Kobberling syndrome is a form of partial lipodystrophy
characterized by sparing of the face. Despite descriptions of six families
since 1974, details of total body adipose tissue distribution and studies
of carbohydrate and fat metabolism are lacking. The mode of inheritance
also remains unclear, with most authors favouring an X- linked dominant
transmission lethal in the hemizygous male. We examined 23 members of a
family, of whom at least eight had partial lipodystrophy. Auxological
evaluation and cross-sectional imaging showed absence of subcutaneous fat,
presence of adipose tissue inside the body cavities, and skeletal muscle
hypertrophy. Biochemical evaluation identified insulin resistance but
revealed inadequate suppression of non-esterified fatty acids. In this
family, male-to-male transmission supports an autosomal dominant mode of
inheritance for Dunnigan-Kobberling syndrome.
ORIGINAL PAPERS
Dunnigan-Kobberling syndrome: an autosomal dominant form of partial lipodystrophy
Department of Diabetes and Endocrinology, Leicester Royal Infirmary NHS Trust, UK.
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