Micropenis and the AR gene: Mutation and CAG repeat-length analysis

Tomohiro Ishii, Seiji Sato, Kenjiro Kosaki, Goro Sasaki, Koji Muroya, Tsutomu Ogata, Nobutake Matsuo

研究成果: Article査読

27 被引用数 (Scopus)


Various mutations of the AR gene and expanded CAG repeats at exon 1 of that gene have been reported in patients with hypospadias or genital ambiguity. However, the role of the AR gene has not been systemically studied in those with isolated micropenis lacking hypospadias or genital ambiguity. We studied 64 Japanese boys with isolated micropenis (age, 0-14 yr; median, 7 yr), whose stretched penile lengths were between -2.5 and -2.0 SD (borderline micropenis) in 31 patients (age, 0-13 yr; median, 8 yr) and below -2.5 SD (definite micropenis) in 33 patients (age, 0-14 yr; median, 6 yr). Mutation analysis of the AR gene was performed for exons 1-8 and their flanking introns, except for the CAG and GGC repeat regions at exon 1, by denaturing HPLC and direct sequencing, identifying a substitution of cytosine to thymine at a position -3 in the 3′ splice site of intron 1 in a patient with definite micropenis. CAG repeat length at exon 1 was determined by electrophoresis with internal size markers and direct sequencing, revealing no statistically significant difference in the distribution of CAG repeat lengths [median (range) and mean ± SE: total patients with isolated micropenis, 24 (14-34) and 23.5 ± 0.38; patients with borderline micropenis, 24 (15-29) and 23.5 ± 0.53; patients with definite micropenis, 23 (14-34) and 23.5 ± 0.56; and 100 control males, 23 (16-32) and 23.5 ± 0.29] or in the frequency of long CAG repeats (percentage of CAG repeats ≥26 and ≥28: total patients with isolated micropenis, 17.2 and 4.7%; patients with borderline micropenis, 19.4 and 6.5%; patients with definite micropenis, 15.2 and 3.0%; and 100 control males, 21.0 and 10.0%). These results suggest that an AR gene mutation is rare and that CAG repeat length is not expanded in children with isolated micropenis.

ジャーナルJournal of Clinical Endocrinology and Metabolism
出版ステータスPublished - 2001

ASJC Scopus subject areas

  • 内分泌学、糖尿病および代謝内科学
  • 生化学
  • 内分泌学
  • 臨床生化学
  • 生化学、医学


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