Open AccessGenetic basis of Cushing’s disease in children and targeted therapeutic future perspectives
Author(s) -
Eda Yanar,
Nadezhda Makazan,
Elizaveta Orlova,
Maria Kareva
Publication year - 2020
Publication title -
problemy èndokrinologii
Language(s) - English
Resource type - Journals
SCImago Journal Rank - 0.124
H-Index - 5
eISSN - 2308-1430
pISSN - 0375-9660
DOI - 10.14341/probl12676
Subject(s) - medicine , etiology , pituitary tumors , disease , endocrine system , medical therapy , cushing's disease , germline , medical treatment , genetic disorder , pathogenesis , pediatrics , bioinformatics , intensive care medicine , hormone , gene , genetics , biology
Cushing’s disease (CD) is a multisystem disorder of a cortisol excess caused by ACTH -secreting pituitary tumor (corticotropinoma). CD in children is due to somatic or germline mutations with the late onset causing multiple endocrine tumors. If not treated, hypercortisolism leads to severe decrease in quality of life and life-threating conditions. The first-line treatment for CD is pituitary surgery, which might be followed by complications and relapse with necessity of additional surgery or initiations of second-line treatment. Recent studies of molecular basis of corticotropinoma development made it possible to employ medical therapy in CD. Understanding of corticotropinoma etiology and pathogenesis is an important part of education for pediatric endocrinologists since we need to keep in mind possibility of multisystem disorder in case of CD in children and because medical therapy might gain more important role for CD treatment in future.The most actual genetic aspects of corticotroph adenomas growth and the medical treatment opportunities are present in this review.