Radhakrishna U, Shah V C, Chinoy N J
Department of Zoology, School of Sciences, Gujarat University, Ahmedabad, India.
Jinrui Idengaku Zasshi. 1991 Sep;36(3):251-5. doi: 10.1007/BF01910543.
A 5-year-old male with ambiguous external genitalia, hypospadias and microphallus without an urethral orifice was referred for cytogenetic studies. Exploratory laparotomy revealed presence of an infantile uterus and unilateral gonadal dysgenesis with both testes and fallopian tube on the right side. The metaphase cells from peripheral blood culture showed both 45,X/46,X inverted Y (p11.2q11.23) cell-lines (98:2). The inverted Y was found to be of paternal origin. Maternal chromosomal pattern was normal 46,XX. The presence of a fallopian tube next to testis suggest absence of secretion of anti-Mullerian hormone by Sertoli cells. The absence of Wolffian duct derivatives suggest insufficient secretion of testosterone by Leydig cells.
一名5岁男性，外生殖器模糊、患有尿道下裂和小阴茎且无尿道口，被转诊进行细胞遗传学研究。剖腹探查发现有幼稚子宫，右侧存在单侧性腺发育不全，同时有睾丸和输卵管。外周血培养的中期细胞显示出45,X/46,X倒位Y（p11.2q11.23）两种细胞系（98:2）。发现倒位Y来自父方。母亲的染色体模式正常，为46,XX。睾丸旁存在输卵管提示支持细胞缺乏抗苗勒管激素分泌。中肾管衍生物的缺失提示睾丸间质细胞睾酮分泌不足。
