Reflections on the diseases linked to mutations of the androgen receptor.
This review summarizes the most recent information on two pathologies linked to mutations of the androgen receptor, namely, the complete androgen insensitivity syndrome (CAIS) and the spinal and bulbar muscular atrophy (SBMA or Kennedy's disease). Data on the clinical manifestations of the two diseases are presented, together with the most relevant findings on their physiopathology and genetics.
Poletti
Angelo
A
Department of Endocrinology and Centre of Excellence on Neurodegenerative Diseases, University of Milano, Italy.
Negri-Cesi
Paola
P
Martini
Luciano
L
D013734:Androgen-Insensitivity Syndrome / Q000235:genetics* / Q000503:physiopathology; D001141:Aromatase / Q000502:physiology; D001921:Brain / Q000502:physiology; D041321:Chromosomes, Human, X / Q000235:genetics*; D005260:Female; D020022:Genetic Predisposition to Disease; D006801:Humans; D008297:Male; D009134:Muscular Atrophy, Spinal / Q000235:genetics* / Q000503:physiopathology; D009154:Mutation; D011944:Receptors, Androgen / Q000235:genetics*; D012733:Sex Differentiation / Q000235:genetics; D013739:Testosterone / Q000502:physiology
D011944:Receptors, Androgen; D013739:Testosterone; D001141:Aromatase