Abstract
Multiple Endocrine Neoplasia Type 1 (MEN1) is a rare inherited endocrine tumor syndrome principally affecting parathyroid glands, neuroendocrine tissues of the gastro-entero-pancreatic and thoracic tracts, and anterior pituitary, caused by germline inactivating mutations of the MEN1 tumor suppressor gene. Primary hyperparathyroidism (PHPT) is usually the first clinical manifestation of the syndrome, normally manifesting during the third decade of life. Cases of affected children and adolescents have been described by the age of 5. Clinical characteristics and therapeutic management of MEN1 in adolescents have been described mainly by case reports. Only two studies on MEN1 patient series under the age of 22 years have recently been published. Given the scarcity of data and the lack of a consistent number of targeted studies, there are currently no specific guidelines available for children and adolescents with MEN1; diagnostic and therapeutic management is, thus, usually the same as for adult patients. Here, we report our experience with 19 adolescent MEN1 patients, developing MEN1-associated PHPT before the age of 20. Fourteen of them, manifesting hypercalcemic PHPT before the age of 20 underwent parathyroidectomy before the age of 25 to control calcemia. Parathyroid surgery restored normal calcemia in all the operated patients. No post-surgical nephrolithiasis has been reported after a mean of 12.0 ± 5.8 years of follow-up. Comparison between pre-surgical and post-surgical values of bone mineral density (BMD) in 2 patients evidenced an improvement of bone mass after parathyroid adenoma ablation. Two patients (14.28%) developed permanent post-surgical hypoparathyroidism.
Highlights
Primary hyperparathyroidism (PHPT), caused by hyperplasia and/or adenomas of the parathyroids, is the most common and, in the great majority of cases, the first clinical manifestation in Multiple Endocrine Neoplasia Type 1 (MEN1), a rare endocrine inherited multiple tumor syndrome caused by germline heterozygote inactivating mutations of the MEN1 tumor suppressor gene
Parathyroid surgery is the treatment of choice for MEN1PHPT; surgical removal of abnormal gland/glands is the most effective and rapid cure for restoring normal parathyroid activity and quickly normalizing calcemia [3]
We describe our experience with MEN1 adolescent patients with PHPT, collected and followed-up through the Regional Referral Center for Inherited Endocrine Tumors of the Tuscany Region, at the “Azienda OspedalieraUniversitaria Careggi,” Florence, Italy
Summary
PHPT in MEN1 manifests principally between 20 and 30 years of age, often remaining asymptomatic for years before being casually discovered during serum biochemical screening in index cases or being recognized by yearly biochemical dosage of parathyroid hormone (PTH) and serum calcium in MEN1 mutation carriers. Since 1997, the application of the MEN1 genetic test in members of mutated pedigrees has allowed the identification of asymptomatic carriers and a constant screening program for the early recognition of MEN1-associated biochemical signs and tumors [2]. This has permitted increasingly frequent identification of PHPT cases during childhood and adolescence and treatment at a younger age. Parathyroid surgery is the treatment of choice for MEN1PHPT; surgical removal of abnormal gland/glands is the most effective and rapid cure for restoring normal parathyroid activity and quickly normalizing calcemia [3]
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