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.
The SI50 titer in the serum can predict inhibitory effects on sperm migration through cervical mucus in immunologically infertile women. Evaluation of the SI50 titers in patients' sera seems to be useful for decision-making in infertile women with sperm immobilizing antibodies regarding whether they have the possibility of conceiving by timed intercourse.
Complete androgen insensitivity syndrome is caused by X chromosome linked disorder resulting in a target organ insensitivity to androgen. Two variants have been described in this syndrome. In the first, the binding of [3H] dihydrotestosterone(17\g=b\-hydroxy-5\g=a\-androstan-3-one) to the androgen receptor is undetectable (receptor-negative), whereas in the second variant normal levels of androgen receptor are detectable but the binding of [3H] dihydrotesterone to the androgen receptor is significantly thermolabile under certain conditions (receptor-positive). In receptor-negative cases, genetic disorders of the androgen receptor gene have been demonstrated. On the other hand, the genetic disorder of androgen receptor in receptor-positive cases is little known. In this study, the gene structure of androgen receptor in a receptor-positive case using a polymerase chain reaction technique is studied in the fibroblasts cultured from genital skin. The results demonstrate that the substitution of nucleotide (guanine\ar=r\cytosine) in exon G of the androgen receptor causes the replacement of an amino acid in position 820 (glycine\ar=r\alanine)which occurs in the hormone-binding domain of the androgen receptor. The substitution of nucleotide may explain the thermolability of the androgen receptor in a case with receptor-positive androgen insensitivity syndrome.
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