Knoke I, Jakubiczka S, Lehnert H, Wieacker P
Institut für Humangenetik, Universitätsklinikum Magdeburg, Germany.
Andrologia. 1999 Jul;31(4):199-201. doi: 10.1046/j.1439-0272.1999.00278.x.
Mutations of the androgen receptor gene in genetic males cause a variety of androgen insensitivity syndromes varying from female phenotype through intersexuality to male phenotype with infertility. The identification of a missense mutation in the steroid-binding domain in an infertile male with mild features of androgen insensitivity is reported here.
遗传男性中雄激素受体基因的突变会导致多种雄激素不敏感综合征，表现从女性表型到两性畸形，再到伴有不育症的男性表型不等。本文报道了在一名具有轻度雄激素不敏感特征的不育男性中，在类固醇结合域发现一个错义突变。
