Ann Endocrinol Paris
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Ann Endocrinol Paris · Feb 2013
Case ReportsAGPAT2 gene mutation in a child with Berardinelli-Seip congenital lipodystrophy syndrome.
Berardinelli-Seip congenital lipodystrophy (BSCL) syndrome is an autosomal recessive disorder, caused by mutation in the AGPAT2 gene, which could lead to insulin resistance and variety of complications. Herein, a 7-year old girl is presented with generalized loss of subcutaneous fat, prominent pectoral and thigh muscles and an early telarche. ⋯ Considering the clinical phenotype, AGPAT2 gene was sequenced which showed homozygote c.514G>A mutation. Therefore, the diagnosis of BSCL was confirmed in this patient.