A Novel Mutation in the D-Box of the Androgen Receptor Gene (S597R) in Two Unrelated Individuals Is Associated with both Normal Phenotype and Severe PAIS

@article{Giwercman2004ANM,
  title={A Novel Mutation in the D-Box of the Androgen Receptor Gene (S597R) in Two Unrelated Individuals Is Associated with both Normal Phenotype and Severe PAIS},
  author={Y. Giwercman and S. Ivarsson and J. Richthoff and K. B. Lundin and A. Giwercman},
  journal={Hormone Research in Paediatrics},
  year={2004},
  volume={61},
  pages={58 - 62}
}
  • Y. Giwercman, S. Ivarsson, +2 authors A. Giwercman
  • Published 2004
  • Biology, Medicine
  • Hormone Research in Paediatrics
    • Background: An absent or dysfunctional androgen receptor (AR) in 46,XY individuals is the most common cause of various degrees of undermasculinization. Therefore, we routinely perform sequencing of the AR gene in all cases with suspected androgen insensitivity. Methods: In a newborn 46,XY male diagnosed with partial androgen insensitivity syndrome and a phenotypically normal man, who in childhood had bilateral cryptorchidism, the AR was directly sequenced. Seven additional men with… CONTINUE READING
    View on PubMed
    doi.org
    15 Citations
    Highly Influential Citations
    1
    Background Citations
    9
    Methods Citations
    1
    15 Citations
    Citation Type

    Citation Type

    Identification of two additional novel mutations in the AR gene associated with severe forms of androgen insensitivity syndrome
    Functional Analysis of Novel Androgen Receptor Mutations in a Unique Cohort of Indonesian Patients with a Disorder of Sex Development
    • 6
    • PDF
    Partial androgen insensitivity with phenotypic variation caused by androgen receptor mutations that disrupt activation function 2 and the NH2- and carboxyl-terminal interaction
    • 55
    Molecular biology of androgen insensitivity
    • 63
    The impact of genetic, environmental and life-style factors on male reproductive function
    • PDF
    Identification of gene variants in 130 Han Chinese patients with hypospadias by targeted next‐generation sequencing
    • 1
    Androgen Physiology: Receptor and Metabolic Disorders
    • 11
    Androgen receptor‐related diseases: what do we know?
    • 20
    • PDF
    Determinants of Receptor- and Tissue-Specific Actions in Androgen Signaling.
    • 72
    • PDF
    Androgen receptor and miR-206 regulation in prostate cancer
    • 4

    References

    SHOWING 1-10 OF 22 REFERENCES
    Response to Treatment in Patients with Partial Androgen Insensitivity due to Mutations in the DNA-Binding Domain of the Androgen Receptor
    • 32
    Phenotypic diversity and testosterone-induced normalization of mutant L712F androgen receptor function in a kindred with androgen insensitivity.
    • 57
    • PDF
    Functional analysis of six androgen receptor mutations identified in patients with partial androgen insensitivity syndrome.
    • 67
    Deletion of the steroid-binding domain of the human androgen receptor gene in one family with complete androgen insensitivity syndrome: evidence for further genetic heterogeneity in this syndrome.
    • 189
    • PDF
    Androgen receptor defects : Historical, clinical, and molecular perspectives
    • 1,057
    Preserved male fertility despite decreased androgen sensitivity caused by a mutation in the ligand-binding domain of the androgen receptor gene.
    • 55
    • PDF
    Screening for mutations in candidate genes for hypospadias
    • 59
    Androgen resistance associated with a qualitative abnormality of the androgen receptor and responsive to high dose androgen therapy.
    • 76
    A mutation in the DNA-binding domain of the androgen receptor gene causes complete testicular feminization in a patient with receptor-positive androgen resistance.
    • 75
    • PDF
    Substitution of valine-865 by methionine or leucine in the human androgen receptor causes complete or partial androgen insensitivity, respectively with distinct androgen receptor phenotypes.
    • 72
    • PDF