A novel heterozygous missense mutation of Trp1220Gly in the insulin receptor gene associates with type A insulin resistance syndrome: A case report
10.3760/cma.j.cn311282-20210913-00595
- VernacularTitle:1例胰岛素受体基因Trp1220Gly新发杂合错义突变A型胰岛素抵抗综合征的诊治探讨
- Author:
Yueli LI
1
;
Yanhong LI
;
Guohong WEI
;
Yu YANG
;
Wanping DENG
;
Yanbing LI
;
Zhimin HUANG
Author Information
1. 南宁市第一人民医院内分泌科 530022
- Keywords:
Insulin receptor gene;
Mutation;
Type A insulin resistance syndrome;
Treatment
- From:
Chinese Journal of Endocrinology and Metabolism
2023;39(8):704-709
- CountryChina
- Language:Chinese
-
Abstract:
We report a case of type A insulin resistance syndrome. A 16-year-old girl with BMI of 19.1 kg/m 2 presented with primary amenorrhea and hyperglycemia for two years. Baseline HbA 1C was 10.8%, along with severe hyperinsulinemia, increased total testosterone and free androgen index(FAI). Ultrasonography showed polycystic ovaries. Next generation sequencing identified a novel and de novo heterozygous missense mutation of Trp1220Gly in the insulin receptor gene. Short-term intensive insulin pump treatment was initiated, followed by insulin glargine, pioglitazone and acarbose combination regiment. Fasting blood glucose and insulin levels decreased significantly, but post-load hyperglycemia and hyperinsulinemia remained unsatisfactory. HbA 1C dropped to 7.6% at 1-year follow up. Patients with polycystic ovarian syndrome who are adolescent-onset and with lean body type should be taken into account of type A insulin resistance syndrome. Currently, there is no standardized treatment protocol, and therapy should be individualized based on the specific gene mutation of each patient.
