ReviewFrontiers in endocrinology2026
A Case Report: Treatment, follow-up, and literature review of type A insulin resistance syndrome caused by a
Review in Frontiers in endocrinology, 2026. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Not yet cited in PubMed.
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Abstract
Background: Type A insulin resistance syndrome (TAIRS) is a rare inherited disorder caused by mutations in the insulin receptor (INSR) gene. It is characterized by severe insulin resistance, hyperandrogenism, and acanthosis nigricans. Its clinical manifestations overlap with those of polycystic ovary syndrome (PCOS), making it prone to misdiagnosis, particularly in adolescent females. Currently, the diagnosis of TAIRS relies on clinical evaluation and genetic confirmation, while long-term management strategies remain limited and challenging. Case presentation: We report a 12-year-old female proband who presented with severe hyperinsulinemia, hyperandrogenism (hirsutism), acanthosis nigricans, and polycystic ovarian changes despite a non-obese phenotype. Whole-exome sequencing identified a Conclusions: This case is attributed to a
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