| Study on the Frequency of Receptor Insensitivity to Androgen Using the Androgen-receptor Binding Assay in the Genetic Male Children with Abnormalities of Sexual Differentiation |
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Choong Ho Shin1, Sei Won Yang1 |
1Department of Pediatrics, College of Medicine, Seoul National University, Seoul, Korea
1Department of Pediatrics, College of Medicine, Seoul National University, Seoul, Korea |
| 성분화이상을 가진 유전적 남성에서 안드로겐 수용체 결합 측정법을 이용한 안드로겐 수용체 저항성의 빈도에 관한 연구 |
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신충호1, 양세원1 |
1서울대학교 의과대학 소아과학교실
1서울대학교 의과대학 소아과학교실 |
Correspondence:
Sei Won Yang, Email: growth@snu.ac.kr
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| Abstract |
Purpose
: The development of external genitalia in genetic male is dependent on the transcriptional
regulatory activity of dihydrotestosterone(DHT)-androgen receptor complex in the genital
skin. The abnormality of androgen receptor encompasses a wide range of phenotypes. We investigated
the androgen receptor binding capacity of genetic males with ambiguous genitalia(grade
was determined by Prader grade) for the availability as screening test.
Methods
: The binding capacity of the androgen receptor was assessed in fibroblasts established
from foreskin or pubic area skin of genetic male [normal control(n=5); Prader grade 2, 3(P23; n=
5); Prader grade 4, 5, 6(P456; n=4), Prader grade 7(P7; n=2)].
Results
: There was no significant difference in averages of Bmax(maximum binding capacity)
and Kd(equilibrium dissociation constant) of [3H]DHT to the androgen receptor between those of
controls and P23. In P456, Bmax was decreased in two patients and Kd was increased in one patient.
Bmax and Kd were normal in one patient. In P7, specific binding was not documented and
compatible with androgen insensitivity syndrome.
Conclusion
: In genetic male with complete female phenotype without pubic hair(P7), the binding
study may be useful as a diagnostic tool. But in genetic male with hypospadia(P23) or incomplete
female phenotype(P456), the binding study is not useful as a diagnostic test. |
| Key Words:
Androgen receptor, Hypospadia, Androgen insensitivity syndrome |
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