Whole exome sequencing in the diagnosis of hypoglycemic syndrome caused by combined hereditary endocrine tumor and non-tumor pathology in the nuclear family

Hypoglycemic syndrome (HGS) is a symptom complex that develops due to an imbalance in the blood glucose maintenance system with the development of hypoglycemia and is stopped by the administration of glucose. One of the most relevant methods at the present stage for the diagnosis of hereditary causes of HGS is whole exome sequencing. The description of two cases in the same family (mother and daughter) is presented, when using whole exome sequencing with the study of genes responsible for HGS, it became possible to establish an accurate diagnosis of a combined hereditary pathology (multi ple endocrine neoplasia type 1 syndrome (MEN1) and maturity-onset diabetes of the young 12 (MODY12)) and to determine a clear management strategy for patients. The presented family case highlights the importance of an extended genetic examination for an accurate diagnosis of the disease; confirms the need for MEN1 gene sequencing in young patients of the risk group, even if primary hyperparathyroidism has not yet manifested in them; once again demonstrates the variability of phenotypic penetrance of hereditary diseases (in particular MEN1 and MODY12); It recalls the expediency of considering the use of in vitro fertilization with preimplantation genetic testing in order to prevent the transmission of hereditary diseases to offspring; highlights the complexities of imaging diagnostics of neuroendocrine tumors

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