Androgen Insensitivity Syndrome Differential Diagnoses

Updated: Oct 16, 2017
  • Author: Christian A Koch, MD, PhD, FACP, FACE; Chief Editor: Robert P Hoffman, MD  more...
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DDx

Diagnostic ConsiderationsKennedy Disease

46,XY complete gonadal dysgenesis (46,XY CGD) differs from androgen insensitivity syndrome by the presence of streak gonads and functioning Müllerian structures. [28]  

There is normal production of testosterone and normal conversion to dihydrotestosterone (DHT) in androgen insensitivity syndrome, which differentiates this condition from 5-alpha reductase deficiency.   

The diagnostic criteria of Kennedy disease (spinal and bulbar muscular atrophy [SBMA]) include progressive proximal weakness, medullary involvement, asymmetrical muscle weakness, muscle atrophy, gynecomastia, and sexual dysfunction. Polymyositis and Kennedy disease have overlapping clinical manifestations which include elevated CK levels and progressive proximal weakness. Polymyositis should be suspected in the presence of subacute to chronic symmetric proximal muscle weakness, occasional bulbar signs but no facial weakness and normal motor and sensory nerve conduction studies. [29]  

 

Differential Diagnoses