Generalized Lipodystrophy

Abstract

Findings in 5 children suffering from congenital generalized lipodystrophy with associated endocrine manifestations are described. A further 5 patients with this very rare syndrome have been reported by other authors. In addition, at least 14 cases of the acquired form of generalized lipodystrophy (lipoatrophic diabetes) have so far been reported. A survey of these conditions has been given. There are many similarities between the congenital and acquired cases of lipodystrophy, but also some dissimilarities. The congenital form may be genetically determined with an autosomal recessive mode of inheritance, affects the 2 sexes almost equally (female predominates in the acquired group) and is not so liable to lead to diabetes. The prognosis quoad vitam is probably more serious in the acquired group, gastro-intestinal hemorrhage being the most frequent cause of death: the periods of observation are, however, shorter for the congenital group. Noteworthy disturbances in lipid and carbohydrate metabolism are found both in congenital and acquired cases. In 1 of our cases an abnormal chromosome with a long heterochromatic segment was demonstrated. The corticosteroid metabolism in our 5 patients has been studied in some detail. They have a tendency towards increased excretion of 17-ketogenic and 17-ketosteroids, and show a variable and often poor or absent response to metyrapone administration. The urinary output of pregnanetriol and aldosterone was relatively high in 2 out of 3 patients studied. The pituitary growth hormone level in the plasma was found to be increased in 3 of the patients, high normal in one and average in 1. A disturbance of the hypothalamic-hypophysial system is thought to be present.