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Is Routine Screening of Young Asymptomatic MEN1 Patients Necessary?
Jerena Manoharan1, Friedhelm Raue2, Caroline L Lopez3
1Department of Visceral, Thoracic and Vascular Surgery, Philipps University Marburg, Baldingerstrasse, 35041, Marburg, Germany. jerena.manoharan@uk-gm.de.
Insights
Routine screening for Multiple Endocrine Neoplasia type 1 (MEN1) mutation carriers may be delayed. Clinically relevant organ manifestations in MEN1 patients rarely occur before age 16, suggesting later screening is appropriate.
Area of Science:
- Endocrinology
- Genetics
- Pediatric Oncology
Background:
- Recent guidelines suggest starting Multiple Endocrine Neoplasia type 1 (MEN1) mutation carrier screening at age 5.
- The occurrence and clinical relevance of MEN1 organ manifestations in children and adolescents (≤18 years) require evaluation.
Purpose of the Study:
- To evaluate the occurrence of clinically relevant MEN1 organ manifestations in patients aged 18 years or younger.
- To assess the age of onset for symptomatic or severe MEN1 manifestations.
Main Methods:
- Retrospective analysis of two prospective databases of 166 MEN1 patients undergoing annual screening.
- Evaluation of organ manifestations in patients ≤18 years, with follow-up until December 2015.
Main Results:
- 12% of MEN1 patients (20/166) had organ manifestations by age ≤18 years.
- The most common were mild asymptomatic primary hyperparathyroidism (pHPT) and pancreatic neuroendocrine tumors (pNETs), including insulinomas.
- Clinically relevant manifestations were observed in only 30% of patients ≤18 years, with symptomatic or severe cases rare before age 16.
Conclusions:
- Symptomatic or severe MEN1 manifestations are uncommon in patients under 16 years.
- Routine screening of asymptomatic MEN1 patients could potentially be postponed until age 16, considering psychological burden and cost-effectiveness.
Background:
Recent clinical practice guidelines recommend that routine screening of MEN1 mutation carriers should start at the age of 5 years. The occurrence of clinically relevant MEN1 organ manifestations in children (≤18 years) was evaluated.
Methods:
Two prospective collected databases of MEN1 patients (n = 166) who underwent annual screening were retrospectively analyzed for organ manifestations in MEN1 patients ≤18 years. The follow-up was based on the most recent screening examination until December 2015.
Results:
Twenty [11 females, 9 males, (12%)] of 166 MEN1 patients were diagnosed with at least one organ manifestation at age ≤18 years. The most frequent manifestation was mild asymptomatic pHPT (n = 9, 45%, age range 8-18 years). Eight (40%) young patients had pNENs (three non-functioning pNENs, five insulinomas, age range 9-18 years). All five insulinomas were diagnosed based on hypoglycemic symptoms. The other organ manifestations were asymptomatic pituitary adenomas in six patients (30%, age range 15-18 years) and a bronchial carcinoid in one 15-year-old patient. Only six (30%) patients ≤18 years had clinically relevant organ manifestations.
Conclusion:
Symptomatic or severe manifestations in MEN1 patients rarely occur below the age of 16 years. With regard to psychological burden and cost-effectiveness, routine screening of asymptomatic MEN1 patients should be postponed at least until the age of 16 years.
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