Case report: Tirzepatide-responsive refractory diabetes mellitus in an adult female with prader-willi syndrome.
Shuang Li, Junjie Yu, Jilin Wei et al.
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Case in brief
A woman with Prader-Willi syndrome (PWS) presented with poorly controlled diabetes mellitus, characterized by severe insulin resistance and uncontrollable hyperphagia leading to morbid obesity. Genetic testing confirmed a deletion in the 15q11.2-q13.1 region. Initial treatment with multiple glucose-lowering agents was ineffective, but switching to tirzepatide resulted in significant improvements in appetite, weight, and glycemic control.
Diagnostic / clinical pearl
Clinicians should consider genetic syndromes like Prader-Willi syndrome in patients with early-onset obesity and diabetes, as they may require tailored therapeutic approaches.
Why it matters
This case highlights the potential of novel antidiabetic agents, such as tirzepatide, in managing complex metabolic issues associated with genetic disorders like PWS.