AACE endocrinology and diabetes · 2026
A Rare Monogenic Metabolic Syndrome From a DYRK1B Variant: Management Challenges and Insights.
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Giri Somdatta, Roy Ayan, Kumar Dutta Atanu, Patra Shinjan, Tahaseen Shaik Mohammad
Аннотация
BACKGROUND: Metabolic syndrome is typically polygenic; however, rare monogenic forms such as DYRK1B-associated abdominal obesity-metabolic syndrome 3 (AOMS 3) exist. We report a case with an AOMS 3-like phenotype and highlight novel features and treatment response.
CASE REPORT: A 21-year-old woman with metabolic syndrome was initially misdiagnosed as polycystic ovarian syndrome. She had abdominal obesity, hyperglycemia, hypertriglyceridemia, and hyperandrogenism. Genetic analysis revealed a heterozygous DYRK1B c.755G>A (p.R252H) variant. She lacked prominent adipogenesis. Due to inadequate control with conventional oral antidiabetic therapy, sodium glucose co-transporter 2 (SGLT2) inhibitor was initiated, leading to metabolic improvement over 6 months.
DISCUSSION: This case expands the phenotypic spectrum of DYRK1B-associated AOMS 3 by demonstrating hyperandrogenism, severe hypertriglyceridemia, and absence of marked adipogenesis. It also suggests a potential therapeutic role of SGLT2 inhibitors in such patients.
CONCLUSION: DYRK1B variants should be considered in young patients with atypical metabolic syndrome. SGLT2 inhibitors may provide benefit when conventional therapy is inadequate.
CASE REPORT: A 21-year-old woman with metabolic syndrome was initially misdiagnosed as polycystic ovarian syndrome. She had abdominal obesity, hyperglycemia, hypertriglyceridemia, and hyperandrogenism. Genetic analysis revealed a heterozygous DYRK1B c.755G>A (p.R252H) variant. She lacked prominent adipogenesis. Due to inadequate control with conventional oral antidiabetic therapy, sodium glucose co-transporter 2 (SGLT2) inhibitor was initiated, leading to metabolic improvement over 6 months.
DISCUSSION: This case expands the phenotypic spectrum of DYRK1B-associated AOMS 3 by demonstrating hyperandrogenism, severe hypertriglyceridemia, and absence of marked adipogenesis. It also suggests a potential therapeutic role of SGLT2 inhibitors in such patients.
CONCLUSION: DYRK1B variants should be considered in young patients with atypical metabolic syndrome. SGLT2 inhibitors may provide benefit when conventional therapy is inadequate.