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 - Report - 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 Report: Management of Type A Insulin Resistance Syndrome Due to INSR Mutation
Overview
This report presents a case of a 12-year-old female with Type A insulin resistance syndrome (TAIRS) caused by a novel INSR mutation.
Background
Type A insulin resistance syndrome (TAIRS) is a rare genetic disorder characterized by severe insulin resistance and associated features such as hyperandrogenism and acanthosis nigricans. The condition often overlaps with polycystic ovary syndrome (PCOS).
Data Highlights
No numerical data or trial data provided in the source material.
Key Findings
['A 12-year-old female presented with severe hyperinsulinemia, hyperandrogenism, and acanthosis nigricans.', 'A de novo heterozygous variant in the INSR gene (c.3328G>C) was identified, classified as likely pathogenic.', 'The patient exhibited significant hirsutism with a Modified Ferriman-Gallwey score of 16.', 'Clinical features included prolonged menstrual periods and signs of virilization.']
Clinical Implications
Genetic testing is essential for adolescents presenting with atypical PCOS features.
Conclusion
This case expands the known pathogenic variant spectrum of the INSR gene and underscores the importance of genetic evaluation in diagnosing TAIRS.
