Naslov
Delayed puberty as the first manifestation of MEN 1

Autori
Marušić, Romana ; Lekić, Ivan ; Bačun, Barbara ; Turk, Tajana ; Degmečić, Dunja ; Bačun, Tatjana

Vrsta, podvrsta i kategorija rada
Sažeci sa skupova, sažetak, stručni

Izvornik
Book of Abstracts OSCON 2021 / - , 2021, 53-53

Skup
3rd International Translational Medicine Congress Of Students And Young Physicians OSCON 2021

Mjesto i datum
Osijek, Hrvatska, 19.03.2021. - 20.03.2021

Vrsta sudjelovanja
Poster

Vrsta recenzije
Domaća recenzija

Ključne riječi
genetic testing ; multiple endocrine neoplasia type 1 (MEN 1) ; pancreatic islet cell tumor ; pituitary adenoma ; primary hyperparathyroidism

Sažetak
Introduction: Multiple endocrine neoplasia type 1 (MEN 1) is a rare disorder that is inherited autosomally dominantly and is characterized by a predisposition to the tumor of the parathyroid glands, anterior pituitary gland, and pancreas. It is caused by mutations in the MEN 1 gene located on chromosome 11 and encodes the protein menin which acts as a tumor- suppressor protein. Case report: We present a 32-year-old patient who underwent surgery at the age of 20 for a pituitary tumor (15 mm prolactinoma). He was previously checked by a pediatrician from the age of 16 due to growth restriction and development during puberty. Uncle had late puberty. Several years ago, several family members of the maternal line became ill. One aunt had pancreatic cancer ; has a positive genotype MEN 1. Another aunt had lung carcinoid, cousin underwent treatment for gastritis and pancreatic and liver tumors were diagnosed ; he and three children have a positive MEN 1 genotype. The mother is being treated for suspected primary hyperparathyroidism ; mother and sister have a positive genotype MEN 1. He underwent molecular genetic analysis: genotype MEN1: c(572dupG) ; (=), p.((Glu191Glyfs*5)) ; ((Glu191=)), and there is a high probability that the variant is pathogenic. Monitoring is planned: calcium, prolactin, magnetic resonance (MR) of the pancreas (every year), MR of the selar region (every 3 years). Conclusion: MEN 1 is an inherited syndrome, so if any of the clinical features of the syndrome occur in the family, a whole family screening should be performed to allow for early diagnosis and treatment of the tumor.

Izvorni jezik
Engleski

Znanstvena područja
Temeljne medicinske znanosti, Kliničke medicinske znanosti

POVEZANOST RADA