Resolución de las alteraciones metabólicas y endocrinológicas asociadas a la lipodistrofia congénita tras el tratamiento con leptina

Congenital lipodystrophy is an uncommon entity characterized by the absence of subcutaneous adipose tissue and elevated insulin resistance. We report the case of a woman with congenital lipodystrophy and leptin deficiency (a hormone produced by adipose tissue, which, among other functions, plays a role in the regulation of food intake and intermediate metabolism). Notable among the patient's physical alterations were acromegalic features, acanthosis nigricans, and enlarged liver. Associated metabolic and endocrinological features were hyperglycemia, despite treatment with high-dose insulin, hypertriglyceridemia, low high-density lipoprotein cholesterol, amenorrhea, and steatohepatitis. The patient was enrolled in a clinical trial that administered leptin and showed complete remission of the metabolic and endocrinological alterations. The present report discusses the possible physiopathological mechanisms involved. We also discuss which findings could be exclusively due to leptin deficiency and which findings were probably due to the hyperinsulinism associated with congenital lipodystrophy, since both alterations are closely linked.