Male infertility and androgen receptor gene mutations: clinical features and identification of seven novel mutations

@article{Ferlin2006MaleIA,
  title={Male infertility and androgen receptor gene mutations: clinical features and identification of seven novel mutations},
  author={Alberto Ferlin and Cinzia Vinanzi and Andrea Garolla and R. Selice and Daniela Zuccarello and Carla Cazzadore and Carlo Foresta},
  journal={Clinical Endocrinology},
  year={2006},
  volume={65}
}
Objective  Androgens and a functioning androgen receptor (AR) are essential for development and maintenance of the male phenotype and spermatogenesis. Consistent with this, mutations in the AR gene cause a variety of defects related to androgen insensitivity, ranging from complete feminization to phenotypic males with infertility. The aim of his study was to analyse the prevalence of AR gene mutations in male infertility and to clarify the genotype‐phenotype relation. 

Detailed functional studies on androgen receptor mild mutations demonstrate their association with male infertility

TLDR
Well‐characterized in vitro functional assays can be used for genotype–phenotype correlation; however, for mild forms of AIS, as associated with male infertility, experimental evidence is scarce or lacking and optimal in vitrofunctional tests informative about the genotype-phenotype relation have not been described.

Androgen insensitivity syndrome: clinical features and molecular defects

TLDR
This review focuses on the clinical features and molecular pathophysiology of AIS and explores the relationship of the molecular defects in the AR gene to their clinical expression.

Androgen receptor gene mutations are associated with male infertility in Northeast China: Clinical features and identification of two novel mutations

TLDR
In north‐east China, there was a higher androgen receptor gene mutation rate among these infertile men, and the mutation of p.S176R deserved more attention particularly, but hormone levels and clinical phenotypes did not help in screening patients at risk of mutations.

Genetic Aspects of Male Infertility

TLDR
It is essential to appraise the current information on genetic basis of male reproductive system disorders to find the predicted genetic perturbations yet to find their place for clinical applications.

Healthy birth after testicular extraction of sperm and ICSI from an azoospermic man with mild androgen insensitivity syndrome caused by an androgen receptor partial loss‐of‐function mutation

TLDR
The androgen receptor (AR) is essential for the development and maintenance of the male phenotype, and for spermatogenesis, and in a wide variety of androgen insensitivity syndromes.

GENETIC TESTING OF MALE INFERTILITY

TLDR
Until further gene mutations are identified, standard genetic testing of infertile men is largely limited to chromosomal karyotyping, Y chromosome analysis, and cystic fibrosis gene mutation analysis.

Effects of androgen receptor mutation on testicular histopathology of patient having complete androgen insensitivity

TLDR
It is suggested that the dysfunctioning of AR by mutation enhances AMH expression which ultimately leads to the failure in maturation of Sertoli cells.

Spermatogenesis disorder is associated with mutations in the ligand‐binding domain of an androgen receptor

TLDR
The study suggests that mutations in the AR gene would change or disturb the receptor's normal activity and it is difficult to say that they lead to a lack of spermatogenesis.
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TLDR
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TLDR
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TLDR
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