ESPE2024 Poster Category 3 Growth and Syndromes (34 abstracts)
WGS confirms the diagnosis of MEN1 syndrome in a suspected pediatric MEN1 case from Qatar, a case report.
Tara Al-Barazenji 1 , Idris Mohammed 2 , Shiga Chirayath 2 & Mashael Al-Shafai 1
1Department of Biomedical Sciences, College of Health Sciences, QU Health, Qatar University, Doha, Qatar. 2Division of Endocrinology, Department of Pediatric Medicine, Sidra Medicine, Doha, Qatar
Herein, we report the case of a 15-year-old Indian boy who initially presented for short stature and obesity. Based on in-depth clinical assessment, the pediatric endocrinology team conducted investigations along with genetic tests. Clinical investigations revealed parathyroid adenoma, pituitary macroadenoma (prolactinoma), and pancreatic neuroendocrine tumor adenoma. The phenotype was directing us towards the MEN syndromes, apart from polydactyly which is atypical for MEN syndromes. Whole genome Sequencing (WGS) revealed a novel 16-basepair deletion resulting in a frameshift in the MEN1 gene (c.1338_1353delGCAGTCCCTAGGCCGT, p.Gln447LeufsTer11) occurring de Novo. With the help of WGS, the patient was diagnosed with MEN1 syndrome and underwent subtotal parathyroidectomy weeks after the genetic test report was available. The case report is the first of its kind from Qatar and it highlights the speed of diagnosis and management enabled by the facilitated access to WGS.
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