A Case Report: Treatment, follow-up, and literature review of type A insulin resistance syndrome caused by a De Novo INSR c.3328G>C mutation - Scorecard - MDSpire
Advertisement
A Case Report: Treatment, follow-up, and literature review of type A insulin resistance syndrome caused by a De Novo INSR c.3328G>C mutation
Clinical Scorecard: A Case Study: Management, Follow-Up, and Review of Literature on Type A Insulin Resistance Syndrome Due to a Novel INSR c.3328G>C Mutation
At a Glance
Category
Detail
Condition
Key Mechanisms
Caused by mutations in the insulin receptor (INSR) gene, leading to severe insulin resistance.
Target Population
Care Setting
Key Highlights
Characterized by severe insulin resistance, hyperandrogenism, and acanthosis nigricans.
Diagnosis relies on clinical evaluation and genetic confirmation.
Case presented a novel de novo INSR mutation classified as 'likely pathogenic'.
Guideline-Based Recommendations
Diagnosis
Clinical evaluation and genetic testing for INSR mutations.
Management
Individualized strategies including pharmacological therapy and medical nutrition.
Monitoring & Follow-up
Regular assessment of insulin levels and metabolic health.
Risks
Potential for precocious puberty and increased risk of metabolic and endocrine complications.
Patient & Prescribing Data
Metformin hydrochloride 0.5g tid and dietary adjustments.
