Hypospadias and the androgen receptor gene: Mutation screening and CAG repeat length analysis

Koji Muroya, Isoji Sasagawa, Yasuhiro Suzuki, Teruhiro Nakada, Tomohiro Ishii, Tsutornu Ogata

Research output: Contribution to journalArticlepeer-review

36 Citations (Scopus)


We report on mutation screening and CAG repeat length analysis of the androgen receptor (AR) gene in 21 patients with hypospadias. The urethral meatus was located at the glandular region in six patients (glandular type), at the penile shaft in seven patients (penile type), and at the scrotal/perineal region in eight patients (scrotal/perineal type). Mutation screening was performed for exons 1-8 and their flanking introns (except for the CAG and GGC repeat regions at exon 1) by the heteroduplex detection method and showed no abnormal chromatograms. The CAG repeat length analysis was carried out using 50 normal boys and 50 fertile males as controls, and demonstrated no statistically significant difference in the median of CAG repeat lengths or in the frequency of long CAG repeats (≥26 or ≥28) between the controls and the patients with the three different types of hypospadias. The results suggest that AR gene abnormalities do not constitute a major factor in the development of hypospadias.

Original languageEnglish
Pages (from-to)409-413
Number of pages5
JournalMolecular Human Reproduction
Issue number5
Publication statusPublished - 2001 May


  • Androgen receptor
  • CAG repeat length
  • Hypospadias
  • Mutation screening

ASJC Scopus subject areas

  • General Medicine


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