Evidence for a partial deletion in the androgen receptor gene in a phenotypic male with azoospermia

Akin, James W.; Behzadian, Ali; Tho, Sandra P.T.; McDonough, Paul G.

doi:10.1016/0002-9378(91)90052-s

Cited by 70 publications

(26 citation statements)

References 12 publications

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“…As androgen acts on target cells through the AR, impaired function of the AR induces abnormalities in androgen action resulting in abnormal conditions such as AIS and infertility. Many abnormalities of the AR gene have been identified in AIS (McPhaul et al, 1993;Sultan et al, 1993;Quigley et al, 1995;Gottlieb, 1997) and decreased AR binding activity has also been reported in infertile males (Aiman et al, 1979;Aiman and Griffin, 1981;Akin et al, 1991). In this study, we have shown that the incidence of infertile males with short CAG repeats is significantly higher than that of fertile males.…”

Section: Discussionsupporting

confidence: 50%

“…We have also showed that the short CAG repeats of the AR gene suppressed the function of the AR in a case of complete AIS (Komori et al, 1998). In infertile males, the decreased AR binding affinity has been previously reported in some oligozoospermic or azoospermic males (Aiman et al, 1979;Aiman and Griffin, 1981;Akin et al, 1991). Impaired spermatogenesis, such as oligozoospermia and azoospermia, has also been observed in patients with Kennedy's disease.…”

Section: Introductionmentioning

confidence: 73%

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CAG repeat length in the androgen receptor gene of infertile Japanese males with oligozoospermia

Komori

Kasumi²,

Kanazawa³

et al. 1999

Molecular Human Reproduction

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We analysed the CAG repeat length in exon 1 of the androgen receptor gene in 59 idiopathic Japanese infertile males with oligozoospermia; 36 fertile males were also analysed as controls. The number of CAG repeats in infertile males ranged from 14 to 32 (mean 21.2 ⍨ 4.2), whereas the number of CAG repeats in fertile males ranged from 16 to 31 (mean 21.4 ⍨ 3.5). Among infertile males, six possessed a short form of 14 CAG repeats and three possessed 15 CAG repeats. On the other hand, fertile males did not possess the short form of 14 or 15 CAG repeats. The incidence of infertile males with 14 and 15 CAG repeats was significantly higher (P < 0.05) than that of fertile males. Although the sample size is small, the results suggest that the reduction of CAG repeats in exon 1 of the androgen receptor is closely related to impaired spermatogenesis in infertile Japanese males.

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Section: Discussionsupporting

confidence: 50%

Section: Introductionmentioning

confidence: 73%

CAG repeat length in the androgen receptor gene of infertile Japanese males with oligozoospermia

Komori

Kasumi²,

Kanazawa³

et al. 1999

Molecular Human Reproduction

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“…However, only a few mutations of the AR gene have been reported in subfertile males. Akin et al [2] reported a deletion of the AR gene in exon 4 in males with azoospermia. Missense mutations of exons 5 and 8 have been detected in men with severe oligozoospermia [12,30].…”

Section: Male Infertilitymentioning

confidence: 99%

Androgen Receptor Gene and Male Genital Anomaly

Sasagawa¹,

Suzuki²,

Muroya³

et al. 2002

Archives of Andrology

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“…Such extensive molecular events usually result in severe functional defects of the AR being associated with a CAIS phenotype. Intriguingly, a deletion of exon 4 coding for the N-terminal part of the ligand binding domain was reported in an infertile male (76). Smaller deletions may also result in substantial structural changes of the AR due to the introduction of a frame shift into the open reading frame, initiating a premature translation termination codon further downstream (77).…”

Section: Molecular Mechanisms Of Androgen Actionmentioning

confidence: 99%

The molecular basis of male sexual differentiation

Hiort

Holterhus

2000

European Journal of Endocrinology

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Male sexual differentiation is the result of complex mechanisms involving developmental genetics and endocrinology. Formation of the bipotential gonads and subsequently the testes is dependent on a series of sex chromosome-linked and autosomal genes. The testes secrete both peptide and steroid hormones essential for the formation of internal and external genitalia. Hormone action is mediated via specific receptors, functioning as transcription regulators. Disruption of these genetic events leads to sexual dimorphism involving external and internal genitalia, and may also interfere with the development of other organs.

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Evidence for a partial deletion in the androgen receptor gene in a phenotypic male with azoospermia

Cited by 70 publications

References 12 publications

CAG repeat length in the androgen receptor gene of infertile Japanese males with oligozoospermia

CAG repeat length in the androgen receptor gene of infertile Japanese males with oligozoospermia

Androgen Receptor Gene and Male Genital Anomaly

The molecular basis of male sexual differentiation

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