ESPE2016 Poster Presentations Endocrinology and Multisystemic Diseases P2 (22 abstracts)
Stanazolol Abuse: Diagnostic Dilemma in an Adolescent with Persistent Hypoglycemia
Ahmet Ucar a , Aylin Yetim b , Muharrem Battal c , Ferda Alparslan Pinarli d , Evrim Kilic e , Deniz Tuncel f , Feyza Yener Ozturk g , Reyhan Kaya a , Arzu Oral a & Ozgur Genc e
aDepartment of Pediatric Endocrinology and Diabetes, Sisli Hamidiye Etfal Education and Research Hosipital, Istanbul, Turkey; bDepartment of Adolescent Medicine, Istanbul University, School of Medicine, Istanbul, Turkey; cDepartment of General Surgery, Sisli Hamidiye Etfal Education and Research Hosipital, Istanbul, Turkey; dDepartment of Medical Genetics, Ankara Diskapi, Yildirim Bayezit Education and Research Hospital, Ankara, Turkey; eDepartment of Pediatric Radiology, Sisli Hamidiye Etfal Education and Research Hosipital, Istanbul, Turkey; fDepartment of Pathology, Sisli Hamidiye Etfal Education and Research Hosipital, Istanbul, Turkey; gDepartment of Endocrinology and Metabolism, Sisli Hamidiye Etfal Education and Research Hosipital, Istanbul, Turkey
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”.
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