Lipodystrophy: an uncommon cause of insulin resistance and young-onset diabetes
Abstract
Insulin resistance due to lipodystrophy syndromes is an uncommon but important cause of diabetes. It is often overlooked due to limited awareness. Standard glucose-lowering therapies often fail to achieve durable metabolic control in patients with lipodystrophy. Long-term complications include cardiovascular events, pancreatitis, kidney failure, metabolic dysfunction associated steatotic liver disease, and sepsis. We report a case of a 15-year-old boy presenting with darkening of skin and inability to gain weight. There was no family history of diabetes or similar disorders. Laboratory evaluation showed high insulin levels, glycosylated hemoglobin (HbA1c) 6.6% (SI: 49 mmol/mol) (reference range, PIK3R1) gene, leading to a genetic diagnosis of SHORT syndrome (short stature, joint hyperextensibility, ocular depression, rieger anomaly, and teething delay). This case underscores the importance of considering lipodystrophy syndromes in lean individuals with diabetes, insulin resistance, and dysmorphic features.
How strong is the evidence?
Evidence Hub reads this as a case report, done in people. Its evidence level is 5 of 5 (Very low · case / narrative / animal / in vitro / in silico). Case reports, narrative reviews, and animal, cell or computer-model studies give the weakest evidence for human health.
Read the paper
Related studies
- Metformin as an adjuvant in breast cancer treatment
- Metformin Lysosomal Targeting: A Novel Aspect to Be Investigated for Metformin Repurposing in Neurodegenerative Diseases?
- Aberrant HSF1 signaling activation underlies metformin amelioration of myocardial infarction in mice
- Metformin induces ZFP36 by mTORC1 inhibition in cervical cancer-derived cell lines
- Protein Interaction Network for Identifying Vascular Response of Metformin (Oral Antidiabetic)
- Preventing Long COVID With Metformin
Go deeper in Evidence Hub
Evidence Hub adds a study data sheet (design, sample size, evidence level, key numbers), an AI summary and a chat grounded in the paper's text.