A novel heterozygous missense mutation of Trp1220Gly in the insulin receptor gene associates with type A insulin resistance syndrome: A case report / 中华内分泌代谢杂志
Chinese Journal of Endocrinology and Metabolism
; (12): 704-709, 2023.
Article
in Chinese
| WPRIM (Western Pacific)
| ID: wpr-994379
Responsible library:
WPRO
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.
Full text:
Available
Database:
WPRIM (Western Pacific)
Language:
Chinese
Journal:
Chinese Journal of Endocrinology and Metabolism
Year:
2023
Document type:
Article