Clinical_Rounds_in_Endocrinology_Volume_II_-_Pediatric_Endocrinology

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Type of lipodystrophy Remarks

Congenital Generalized

Berardinelli–Seip

syndrome

AGPAT2 and BSCL2 mutation

Some variants may be associated with short stature,

mental retardation, and cardiomyopathy

Partial

Familial partial

lipodystrophy

LMNA, PPARG, and AKT2 mutation

Loss of adipose tissue from extremities

Werner’s syndrome WRN mutation

Short stature and feature of progeria

Acquired Generalized

Lawrence syndrome Triggered by panniculitis or autoimmunity

Partial

Barraquer–Simons

syndrome

Lipoatrophy in upper half of the body and

lipohypertrophy in lower half of the body

Possibly autoimmune mediated or viral infection

Drugs Protease inhibitors

rhGH therapy

Insulin therapy

Pegvisomant

76. What is congenital generalized lipodystrophy?

Congenital generalized lipodystrophy (CGL) also called as Berardinelli–Seip

syndrome is an autosomal recessive disorder characterized by markedly reduced

subcutaneous adipose tissue. Children with CGL have voracious appetite, accel-

erated linear growth, acromegaloid facies, protuberant abdomen, and severe

acanthosis nigricans (Fig. 12.6). Affected females commonly present with

features of hyperandrogenism. The metabolic abnormalities associated with

lipodystrophy include severe insulin resistance, diabetes mellitus, hypertriglyc-

eridemia, and low HDL-C. Diabetes associated with CGL usually manifest dur-

ing peripubertal period and is refractory to therapy with insulin and other

antidiabetic drugs. There are two variants of CGL, type1 and type2. The differ-

ences between these two subtypes are summarized in the table given below.

Parameters Type1 CGL Type2 CGL

Mutations AGPAT2 gene BSCL2 gene

Metabolically active fat (subcutaneous, intra-abdominal,

intrathoracic, intermuscular, and bone marrow)

Absent Absent

Mechanical fat (scalp, orbit, palm, and sole) Preserved Absent

Cardiomyopathy Present More

common

Mental retardation Present More

common

Focal lytic lesions in long bone More

common

Present

12 Diabetes in the Young