| HOME | HELP | FEEDBACK | SUBSCRIPTIONS | ARCHIVE | SEARCH | TABLE OF CONTENTS |
Other Original Articles |
Department of Pediatrics, Keio University School of Medicine, Tokyo 160-8582, Japan
Address all correspondence and requests for reprints to: Tomohiro Ishii, M.D., Department of Pediatrics, Keio University School of Medicine, 35 Shinanomachi, Shinjuku-ku, Tokyo 160-8582, Japan. E-mail: tomishii{at}mac.com
Abstract
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.
This article has been cited by other articles:
 |
|
 |
|
  M. Watanabe, R. Yoshida, K. Ueoka, K. Aoki, I. Sasagawa, T. Hasegawa, K. Sueoka, N. Kamatani, Y. Yoshimura, and T. Ogata Haplotype analysis of the estrogen receptor 1 gene in male genital and reproductive abnormalities Hum. Reprod., May 1, 2007; 22(5): 1279 - 1284. [Abstract] [Full Text] [PDF]
|
|
|
|
 |
|
 E. Rajpert-De Meyts Developmental model for the pathogenesis of testicular carcinoma in situ: genetic and environmental aspects Hum. Reprod. Update, May 1, 2006; 12(3): 303 - 323. [Abstract] [Full Text] [PDF]
|
|
|
|
 |
|
 G. Sasaki, T. Ogata, T. Ishii, K. Kosaki, S. Sato, K. Homma, T. Takahashi, T. Hasegawa, and N. Matsuo Micropenis and the 5{alpha}-Reductase-2 (SRD5A2) Gene: Mutation and V89L Polymorphism Analysis in 81 Japanese Patients J. Clin. Endocrinol. Metab., July 1, 2003; 88(7): 3431 - 3436. [Abstract] [Full Text] [PDF]
|
|
|
|
 |
|
 E. Moncke-Buchner, S. Reich, M. Mucke, M. Reuter, W. Messer, E. E. Wanker, and D. H. Kruger Counting CAG repeats in the Huntington's disease gene by restriction endonuclease EcoP15I cleavage Nucleic Acids Res., August 15, 2002; 30(16): e83 - e83. [Abstract] [Full Text] [PDF]
|
|
|
|
|
|
K. Kosaki, T. Suzuki, K. Muroya, T. Hasegawa, S. Sato, N. Matsuo, R. Kosaki, T. Nagai, Y. Hasegawa, and T. Ogata PTPN11 (Protein-Tyrosine Phosphatase, Nonreceptor-Type 11) Mutations in Seven Japanese Patients with Noonan Syndrome J. Clin. Endocrinol. Metab., August 1, 2002; 87(8): 3529 - 3533. [Abstract] [Full Text] [PDF]
|
|
| HOME | HELP | FEEDBACK | SUBSCRIPTIONS | ARCHIVE | SEARCH | TABLE OF CONTENTS |
| Endocrinology | Endocrine Reviews | J. Clin. End. & Metab. |
| Molecular Endocrinology | Recent Prog. Horm. Res. | All Endocrine Journals |
