Congenital generalized lipodystrophy (CGL) is a rare autosomal recessive disorder characterized by near complete absence of adipose tissue since birth and insulin resistance. The diagnosis is made on the basis of lack of body fat, muscular hypertrophy, acanthosis nigricans, hirsutism, hepatomegaly with fatty liver, hyperlipidemia and hyperglycemia with insulin resistance. We describe a 4-year-o...

Human lipodystrophies are a heterogeneous group of diseases characterized by generalized or partial fat loss. If localized, they are often associated with fat hypertrophy in other depots, varying according to the type of lipodystrophy. Lipodystrophies can be genetic, which is usually uncommon, or acquired. Genetic lipodystrophy is generally related to severe meta‐ bolic alterations including in...

Inheritance of congenital lipodystrophy is autosomal recessive, while it is autosomal dominant for familial lipodystrophy. In addition to congenital and familial lipodystrophies, this Panel has differentail diagnostics power to some rare phenotypes with overlapping symptoms. These include for example hypoinsulinemic hypoglycemia with hemihypertrophy and mandibuloacral dysplasia with lipodystrop...

Inheritance of congenital lipodystrophy is autosomal recessive, while it is autosomal dominant for familial lipodystrophy. In addition to congenital and familial lipodystrophies, this Panel has differentail diagnostics power to some rare phenotypes with overlapping symptoms. These include for example hypoinsulinemic hypoglycemia with hemihypertrophy and mandibuloacral dysplasia with lipodystrop...

Inheritance of congenital lipodystrophy is autosomal recessive, while it is autosomal dominant for familial lipodystrophy. In addition to congenital and familial lipodystrophies, this Panel has differentail diagnostics power to some rare phenotypes with overlapping symptoms. These include for example hypoinsulinemic hypoglycemia with hemihypertrophy and mandibuloacral dysplasia with lipodystrop...

OBJECTIVE To investigate whether leptin-induced improvements in glycemic control, hyperlipidemia, and insulin sensitivity in hypoleptinemic patients with generalized lipodystrophies are accompanied by reduction in intrahepatic and intramyocellular lipid (IMCL) accumulation. RESEARCH DESIGN AND METHODS We examined the effects 8-10 months of subcutaneous leptin replacement therapy on insulin se...