Partial androgen insensitivity caused by an androgen receptor mutation at amino acid 907 (Gly-->Arg) that results in decreased ligand binding affinity and reduced androgen receptor messenger ribonucleic acid levels.

@article{Choong1996PartialAI,
  title={Partial androgen insensitivity caused by an androgen receptor mutation at amino acid 907 (Gly-->Arg) that results in decreased ligand binding affinity and reduced androgen receptor messenger ribonucleic acid levels.},
  author={Catherine S Y Choong and Marian J. Sturm and J A Strophair and Ross K McCulloch and Wayne D Tilley and Peter J. Leedman and Dana M. Hurley},
  journal={The Journal of clinical endocrinology and metabolism},
  year={1996},
  volume={81 1},
  pages={
          236-43
        }
}
Androgen insensitivity is an X-linked disorder of sexual differentiation resulting from mutations in the androgen receptor (AR) gene. In this paper, we report the clinical phenotype and molecular analysis of two siblings with severe partial androgen insensitivity due to a novel mutation in the ligand-binding domain of the AR gene. Binding studies using cultured genital skin fibroblasts demonstrated reduced AR affinity and binding capacity. Nucleotide sequence analysis of the AR gene of both… CONTINUE READING