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 de novo 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.