Itoh Naoki, Tsukamoto Taiji
Department of Urology, Sapporo Medical University School of Medicine.
Nihon Rinsho. 2004 Feb;62(2):305-8.
XX 'pure' gonadal dysgenesis is a disease related to Turner's syndrome. Patients of this disease are characterized by normal female external genitalia, bilateral streak gonads, amenorrhea and sexual infantilism. Recently, it has been reported that point mutations of the FSH receptor gene may be one of cause of this disease. The relationship between criminal behavior and XYY syndrome is still controversial. Increased incidence of disomic sperm in 47,XYY males has been reported by fluorescent in situ hybridization(FISH). Genetic counseling should be done when they undergo intracytoplasmic sperm injection.
XX型“纯”性腺发育不全是一种与特纳综合征相关的疾病。该疾病患者的特征为女性外生殖器正常、双侧条索状性腺、闭经和性幼稚。最近有报道称，促卵泡激素受体基因的点突变可能是该病的病因之一。犯罪行为与XYY综合征之间的关系仍存在争议。荧光原位杂交（FISH）报告显示，47,XYY男性的二体精子发生率增加。当他们接受胞浆内单精子注射时，应进行遗传咨询。
