Journal of Clinical Case Reports

John Cleland

Publications

• Case Report
  Partial Androgen Insensitivity Syndrome Caused by a Novel Mutation
  Author(s): Elisa Gonzalez, John Cleland, James Laurence Niki Karavitaki and Ashley B GrossmanElisa Gonzalez, John Cleland, James Laurence Niki Karavitaki and Ashley B Grossman
  
  The spectrum of androgen insensitivity syndrome (AIS) is well characterized, ranging from complete androgen insensitivity (CAIS) to varying degrees of partial and mild insensitivity (PAIS). There is evidence correlating loss of androgen receptor function caused by mutations with the clinical phenotype. We present a patient with phenotypic and biochemical evidence of partial androgen insensitivity who has a c.2746 T>C base pair substitution causing a p.Tyr916 His sequence variant in the androgen receptor that has not been previously reported. Furthermore, this mutation is in an atypical site, and the phenotype does not correspond with previous reports of complete androgen insensitivity caused by mutations in this region. This highlights potential deficiencies in our molecular understanding of this syndrome, and re-e.. Read More»
  DOI: 10.4172/2165-7920.1000511

  Abstract PDF