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Endocrine. 2018 Feb;59(2):438-448. doi: 10.1007/s12020-017-1322-5. Epub 2017 May 22.

MEN1 in children and adolescents: Data from patients of a regional referral center for hereditary endocrine tumors.

Author information

1
Department of Surgery and Translational Medicine, University of Florence, Viale Pieraccini 6, 50139, Florence, Italy.
2
Department of Surgery and Translational Medicine, University of Florence, Largo Palagi 1, 50139, Florence, Italy.
3
Department of Surgery and Translational Medicine, University of Florence, Largo Palagi 1, 50139, Florence, Italy. marialuisa.brandi@unifi.it.

Abstract

PURPOSE:

To retrospectively evaluate the age of onset of MEN1-associated lesions in a group of affected children and adolescents and to compare the clinical features of our series with the evidence derived from the literature.

METHODS:

The study population consisted of 22 Italian children and adolescents (age 6-31 years at the time of the inclusion in this study) all with a clinical and/or a genetic diagnosis of MEN1 performed before the age of 16 who have been followed-up regularly from 1998 to 2016 at the Regional Referral Center for Hereditary Endocrine Tumors. Clinical, biochemical, imaging and genetic data have been collected for each patient.

RESULTS:

Ten subjects (45.5%) have not yet presented any clinical/biochemical/radiological manifestation of MEN1 disease, whereas 12 patients (54.5%) developed at least one MEN1-associated endocrine manifestation. The second group of patients was significantly older than the first one. The most frequent manifestation was primary hyperparathyroidism (50%), followed by pituitary tumors (prolactinomas) (31.8%) and nonfunctioning pancreatic neuroendocrine tumors (9%). The earliest cases of primary hyperparathyroidism and prolactinoma were a 12-year-old girl and a 13-year-old boy, respectively.

CONCLUSIONS:

MEN1 disease seems to present with different features in children and adolescents from those in adults. Our study confirms the fundamental importance of screening for tumors in young MEN1 patients beginning in early childhood, in order to avoid diagnostic and therapeutic delays.

KEYWORDS:

Children and adolescents; Clinical diagnosis; Disease screening; Early onset; Genetic diagnosis; Multiple endocrine neoplasia type 1

PMID:
28530019
DOI:
10.1007/s12020-017-1322-5
[Indexed for MEDLINE]

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