A Case Report of a Chinese Familial Partial Lipodystrophic Patient with Lamin A/C Gene R482Q Mutation and Polycystic Ovary Syndrome
- *Corresponding Author:
- Benli Su
Department of Endocrinology and metabolism
The Second Hospital of Dalian Medical University
Dalian 116027, China
E-mail: [email protected]
Received date: February 04, 2017; Accepted date: February 15, 2017; Published date: February 21, 2017
Citation: Su B, Liu N, Liu J, Sun W, Zhang X, et al. (2017) A Case Report of a Chinese Familial Partial Lipodystrophic Patient with Lamin A/C Gene R482Q Mutation and Polycystic Ovary Syndrome. Diabetes Case Rep 1:117. doi: 10.4172/2572-5629.1000117
Copyright: © 2017 Su B, et al. This is an open-access article distributed under the terms of the Creative Commons Attribution License, which permits unrestricted use, distribution, and reproduction in any medium, provided the original author and source are credited.
Individuals with Familial partial lipodystrophy (FPLD), Dunnigan variety is a rare autosomal dominant disorder caused by missense mutations in Lamin gene are predisposed to insulin resistance and its complications including features of polycystic ovarian syndrome. We present a single case report about a 26-year-old Chinese woman consulted for infertility. On physical examination acanthosis nigricans and central distribution of fat were found. Her masculine type morphology, muscular appearance of the limbs and excess fat deposits in the face and neck promote us to suspect the existence of partial lipodystrophy. Biochemistry testing confirmed glucose intolerance associated with a severe insulin resistance, hypertriglyceridemia, and polycystic ovary syndrome. The detection of a heterozygous missense mutation in LAMIN A/C gene at position 482 confirmed the diagnosis of FPLD2. In conclusion, characteristic features of FPLD and mutation screening allow early diagnosis of this disorder, and facilitate appropriate clinical treatment.