성분화이상을 가진 유전적 남성에서 안드로겐 수용체 결합 측정법을 이용한 안드로겐 수용체 = 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

다국어 초록 (Multilingual 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.

국문 초록 (Abstract)

목 적 : 유전적 남성에서 다이하이드로테스토스테론(DHT)에 대한 안드로겐 수용체의 결합능 검사가 외부 성기 모습의 이상을 보이는 환자에서 어느 정도 유용하게 쓰일 수 있는지 알아보기 위해 배위체-수용체 결합반응(ligand-receptor interaction) 검사를 시행하였다.방 법 : 유전적 남성 소아중에서 5명의 정상인, 5명의 요도하열(Prader 2, 3 등급), 모호한 성기(Prader 4, 5등급) 및 여성형 성기(Prader 6, 7등급, 음모 발달 있으면 6 등급)를 보이는 6명에서 귀두 포피 세포 혹은 치골부위 세포에서 섬유아세포를 배양하여 [3H] DHT에 대한 안드로겐 수용체의 최고 결합능(Bmax)과 결합친화도(Kd)를 검사하였다.