Correlation between genotype, phenotype and sex of rearing in 111 patients with partial androgen insensitivity syndrome

@article{Deeb2005CorrelationBG,
  title={Correlation between genotype, phenotype and sex of rearing in 111 patients with partial androgen insensitivity syndrome},
  author={A. Deeb and C. Mason and Y. Lee and I. Hughes},
  journal={Clinical Endocrinology},
  year={2005},
  volume={63}
}
  • A. Deeb, C. Mason, +1 author I. Hughes
  • Published 2005
  • Biology, Medicine
  • Clinical Endocrinology
  • Objective  Partial androgen insensitivity syndrome (PAIS) is a heterogeneous group of intersex disorders characterized by a typical perineoscrotal hypospadias/micropenis phenotype, and a normal androgen‐producing testis. Various mutations in the androgen receptor (AR) are known to cause PAIS. Phenotypic expression is widely variable and there are no agreed guidelines to determine the sex of rearing in individuals with borderline masculinization. We aimed to quantitatively assess the external… CONTINUE READING
    87 Citations
    A case of complete androgen insensitivity syndrome with a novel androgen receptor mutation
    • 5
    The Long-Term Outcome of Boys With Partial Androgen Insensitivity Syndrome and a Mutation in the Androgen Receptor Gene
    • 36
    • PDF
    Androgen insensitivity syndrome.
    • 124
    • PDF
    46,XY disorders of sex development--the undermasculinised male with disorders of androgen action.
    • 32
    • PDF

    References

    SHOWING 1-10 OF 45 REFERENCES
    Phenotypic features, androgen receptor binding, and mutational analysis in 278 clinical cases reported as androgen insensitivity syndrome.
    • 321
    • PDF
    A clinician looks at androgen resistance
    • 25
    Androgen-insensitivity syndrome as a possible coactivator disease.
    • 168
    Aetiological diagnosis of male sex ambiguity: a collaborative study
    • 113