Genetics of Cushing’s Syndrome
作者： Laura C. Hernández-Ramírez , Constantine A. Stratakis
DOI: 10.1016/J.ECL.2018.02.007
关键词: Cyclic adenosine monophosphate 、 Corticotropic cell 、 Glucocorticoid 、 Protein kinase A 、 Genetic counseling 、 Bioinformatics 、 Carcinogenesis 、 Somatic cell 、 Medicine 、 S syndrome
摘要: The knowledge on the molecular and genetic causes of Cushing's syndrome (CS) has greatly increased in recent years. Somatic mutations leading to overactive 3',5'-cyclic adenosine monophosphate/protein kinase A wingless-type MMTV integration site family/beta-catenin pathways are main mechanisms underlying adrenocortical tumorigenesis. Corticotropinomas characterized by resistance glucocorticoid negative feedback, impaired cell cycle control overexpression sustaining ACTH secretion. Recognizing defects behind corticotroph tumorigenesis proves crucial for tailoring clinical management CS patients designing strategies counseling screening be applied routine medical practice.
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