Pediatric patient with maturity‑onset diabetes of the young type 5 and 17q12 deletion syndrome: A case report

Maturity-onset diabetes of the young type 5 (MODY5), a rare disease, is often misdiagnosed as type 2 diabetes, leading to delays in diagnosis. 17q12 deletion syndrome is a rare chromosomal abnormality, the signs and symptoms of which can vary widely among different patients, including those with MODY5. The present study reports the case of a 9-year-old patient with chromosomal 17q12 deletion syndrome identified by the <i>de novo</i> deletion of the 1.49 Mb segment in the 17q12 band of the HNF1B gene by genetic analysis. The patient presented with MODY5, a short stature and hypertransaminasemia as clinical features. The risk of inheritance of 17q12 deletion syndrome is ~50%, and genetic counseling is recommended for all patients who are suspected to have or are diagnosed with 17q12 deletion syndrome.