Results Of them, 2 patients with severe hyposp adias (one with perineal hypospadias and bilateral cryptorchidism, one with penoscrotal hypospadias) were found exon 8 androgen receptor gene mutation.

• 结果1例会阴型尿道下裂合并双隐睾、1例阴茎阴囊型尿道下裂患儿检出雄激素受体基因第8外显子突变，未发现第2外显子存在基因突变。