• Ann Endocrinol Paris · Feb 2013

    Case Reports

    AGPAT2 gene mutation in a child with Berardinelli-Seip congenital lipodystrophy syndrome.

    • Parastoo Rostami, Maryam Nakhaeimoghadam, Faezeh-Moghimpour Bijani, Arya Sotoudeh, Ali Rabbani, Pascale Hilbert, and Nima Rezaei.
    • Department of pediatric endocrinology, Children's medical center, Tehran university of medical sciences, Tehran, Iran.
    • Ann Endocrinol Paris. 2013 Feb 1;74(1):59-61.

    AbstractBerardinelli-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. Laboratory studies revealed an elevated level of serum triglyceride. Ultrasonograph demonstrated enhanced size of ovary containing multiple mature follicles. 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.Copyright © 2012 Elsevier Masson SAS. All rights reserved.

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