A de novo MEN1 gene mutation in a 4-year-old boy with hypoglycemia: A case report and literature review

Novel de novo MEN1 variant (c.583G>T, p.E195*) confirmed pathogenic by functional studies, early presentation at age 4 with hypoglycemia

A 4-year-old boy presenting with severe hypoglycemia is diagnosed with a novel de novo MEN1 variant (c.583G>T, p.E195). MEN1 is responsible for multiple endocrine neoplasia type 1, combining parathyroid, pituitary, and enteropancreatic tumors. Variant pathogenicity is confirmed by functional studies. This very early pediatric presentation (age 4) is unusual for MEN1 and illustrates the need to consider MEN1* in unexplained neonatal or pediatric hypoglycemia.

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MEN1 rarely presents before adolescence, and this 4-year-old case with a de novo variant is clinically important: it broadens the age-at-presentation spectrum and argues for including MEN1 in the diagnostic panel for unexplained pediatric hypoglycemia, particularly in the absence of family history.

Clinical impact: 2/3 · Evidence strength: 2/3 · Novelty: 2/2 · Sample size: 0/1 · Publication status: 1/1 → Total: 7/10