Department of pediatric endocrinology, Children's medical center, Tehran university of medical sciences, Tehran, Iran.
Ann Endocrinol (Paris). 2013 Feb;74(1):59-61. doi: 10.1016/j.ando.2012.11.008. Epub 2013 Jan 18.
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. 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.
贝伦迪尼-西普先天性脂肪营养不良（BSCL）综合征是一种常染色体隐性遗传疾病，由 AGPAT2 基因突变引起，可导致胰岛素抵抗和多种并发症。本研究报道了一例 7 岁女孩，表现为全身皮下脂肪丧失，胸肌和大腿肌肉突出，性早熟。实验室研究显示血清甘油三酯水平升高。超声显示卵巢增大，含有多个成熟卵泡。鉴于临床表现，对 AGPAT2 基因进行了测序，显示纯合子 c.514G>A 突变。因此，该患者被确诊为 BSCL。
