A Case of Chromosome 17q12 Deletion Syndrome with Type 2 Mayer–Rokitansky–Küster–Hauser Syndrome and Maturity-Onset Diabetes of the Young Type 5.

Lee, Rosie; Choi, Jung Eun; Mun, Eunji; Kim, Kyung hee; Choi, Sun Ah; Kim, Hae Soon

Chromosome 17q12 deletion syndrome (OMIM #614527) is a rare genetic disorder associated with a heterozygous 1.4–1.5 Mb deletion at chromosome 17q12, leading to a spectrum of clinical manifestations, including kidney abnormalities, neurodevelopmental delay, maturity-onset diabetes of the young type 5 (MODY5), and Mayer–Rokitansky–Küster–Hauser (MRKH) syndrome. We present the case of a 14-year-old Korean female diagnosed with chromosome 17q12 deletion syndrome, confirmed by chromosomal microarray analysis. The patient exhibited MODY5 with pancreatic agenesis, MRKH syndrome, dysmorphic facial features, developmental delay, kidney rotation anomaly, portal vein thrombosis with liver hypoplasia, short stature, and scoliosis. Management involved the initiation of multiple daily insulin injections for diabetes control, gynecological evaluation for MRKH syndrome, and multidisciplinary care for associated complications. This case highlights the complexity and varied organ involvement in chromosome 17q12 deletion syndrome. A comprehensive and multidisciplinary approach is crucial for the management of affected individuals, including regular monitoring, tailored interventions across various medical specialties, and providing psychosocial support.

PHYSICAL diagnosis; MAYER-Rokitansky-Kuster-Hauser syndrome; CHILD psychopathology; HUMAN abnormalities; DIABETIC retinopathy; SCOLIOSIS; CHROMOSOME abnormalities; MATURITY onset diabetes of the young; TREATMENT effectiveness; MAGNETIC resonance imaging; PEDIATRICS; KARYOTYPES; CLINICAL pathology; DEVELOPMENTAL disabilities; MICROARRAY technology; POLYURIA; GENETIC testing; DIABETES; POLYDIPSIA; ABDOMINAL radiography; HEALTH care teams

Children, 2024, Vol 11, Issue 4, p404

2227-9067

Academic Journal

10.3390/children11040404