Novel (60%) and recurrent (40%) androgen receptor gene mutations in a series of 59 patients with a 46,XY disorder of sex development.

@article{Aud2010NovelA,
  title={Novel (60%) and recurrent (40%) androgen receptor gene mutations in a series of 59 patients with a 46,XY disorder of sex development.},
  author={L. Aud{\'i} and M. Fern{\'a}ndez-Cancio and A. Carrascosa and P. Andaluz and N. Tor{\'a}n and C. Piro and E. Vilar{\'o} and E. Vicens-Calvet and M. Gussiny{\'e} and M. A. Albisu and D. Yeste and M. Clemente and I. Hern{\'a}ndez de la Calle and M. del Campo and T. Vendrell and A. Blanco and J. Mart{\'i}nez-Mora and M. Granada and I. Salinas and J. Forn and J. Calaf and O. Angerri and M. J. Mart{\'i}nez-Sopena and J. del Valle and E. Garcia and R. Gracia-Bouthelier and P. Lapunzina and E. Mayayo and J. Labarta and G. Lledo and J. S{\'a}nchez del Pozo and J. Arroyo and A. P{\'e}rez-Ayt{\'e}s and M. Beneyto and A. Segura and V. Borr{\'a}s and E. Gabau and M. Caimar{\'i} and A. Rodr{\'i}guez and M. J. Mart{\'i}nez-Aedo and M. Carrera and L. Casta{\~n}o and M. Andrade and J. A. Berm{\'u}dez de la Vega},
  journal={The Journal of clinical endocrinology and metabolism},
  year={2010},
  volume={95 4},
  pages={
          1876-88
        }
}
BACKGROUND Androgen receptor (AR) gene mutations are the most frequent cause of 46,XY disorders of sex development (DSD) and are associated with a variety of phenotypes, ranging from phenotypic women [complete androgen insensitivity syndrome (CAIS)] to milder degrees of undervirilization (partial form or PAIS) or men with only infertility (mild form or MAIS). OBJECTIVE The aim of the study was to characterize the contribution of the AR gene to the molecular cause of 46,XY DSD in a series of… Expand
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107 Citations

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Different types of androgen receptor mutations in patients with complete androgen insensitivity syndrome.
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Three novel and two known androgen receptor gene mutations associated with androgen insensitivity syndrome in sex-reversed XY female patients
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Functional and Structural Study of the Amino Acid Substitution in a Novel Familial Androgen Receptor Mutation (W752G) Responsible for Complete Androgen Insensitivity Syndrome
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Novel mutations of the SRD5A2 and AR genes in Thai patients with 46, XY disorders of sex development
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Molecular investigation of mutations in androgen receptor and 5‐alpha‐reductase‐2 genes in 46,XY Disorders of Sex Development with normal testicular development
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Identification of two additional novel mutations in the AR gene associated with severe forms of androgen insensitivity syndrome
Screening for mutations in 17β-hydroxysteroid dehydrogenase and androgen receptor in women presenting with partially virilised 46,XY disorders of sex development.
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Mutational analysis of the androgen receptor (NR3C4) gene in patients with 46,XY DSD.
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Phenotypic and biochemical characteristics and molecular basis in 36 Chinese patients with androgen receptor variants
AR and SRD5A2 gene mutations in a series of 51 Turkish 46,XY DSD children with a clinical diagnosis of androgen insensitivity
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