Background: Multiple endocrine neoplasia (MEN)1 is a rare autosomal dominant disorder with primary hyperparathyroidism, enteropancreatic neuroendocrine tumors and anterior pituitary adenomas.
Patient: A16-yr-old male was referred to our center due to recurrent seizures. Family history was significant for maternal death due to metastatic adenocarcinoma of the lung,paternal history of low-grade liposarcomas and nephrolitiasis. Physical examination was normal, with a well-built, muscular adolescent. Biochemical tests revealed venous glucose: 24 mg/dl, cortisol: 18 μg/dl, growthhormone: 13 ng/ml, insulin: 8 μU/ml, Cpeptide: 1.34 ng/ml; consistent with hyperinsulinism.Anti-insulin antibodies were negative.Serum liver enzymes and creatine kinase levels were high. Extensive work-up for inborn errors of metabolism was normal. Thin-slice pancreas CT and MRI were normal. On further questioning, the patient admitted receiving stanazolol to strengthen his muscles. Liver enzymes andCK levels subsided back to normal ranges within 2 weeks after cessation of stanozolol. Hypoglycemia did not recur on 200 mg diazoxide/day. Biochemical evaluation also revealed primary hyperparathyroidism. Parathyroid scintigraphy revealed an adenoma in the inferior right parathyroid gland. Upper gastrointestinal endoscopic ultrasound revealed two lesions in the corpus and tail of the pancreas. Serum prolactin levels and pituitary MRI were normal. DNA sequence analysis of menin gene revealed a novel pW183S heterozygous deletion. The same mutation was found in his father and his14-year-old brother, who had asymptomatic primary hyperparathyroidism. Distal pancreatectomy revealed two adenomatous masses (1.1 cm and 1.4 cm):an insulinoma and a non-secretory adenoma.
Conclusions: Our case emphasizes the need to question drug abuse in adolescents presenting to clinics. This is the first pediatric case of MEN1 with two synchronous pancreatic adenomas.The genetic confirmation of diagnosis of MEN1 is mandatory to assess other family members for the presence of the mutation, to monitor regularly for potential endocrine problems and to avoid unnecessary work-up due to phenocopy.
10 - 12 Sep 2016
European Society for Paediatric Endocrinology