Ovotesticular Disorder of Sex Development With Mosaic 45,X/46,X,idic(Y) (q11.23) Karyotype and Streak Gonad

被引：10
作者：
Tran, Christine N.
Semins, Michelle J.
Epstein, Jonathan I.
Gearhart, John P. [1 ]
机构：
[1] Johns Hopkins Univ, Sch Med, James Buchanan Brady Urol Inst, Baltimore, MD 21287 USA
来源：
UROLOGY | 2011年 / 78卷 / 05期
关键词：
TRUE HERMAPHRODITISM; AMBIGUOUS GENITALIA;
D O I：
10.1016/j.urology.2011.02.036
中图分类号：
R5 [内科学]; R69 [泌尿科学（泌尿生殖系疾病）];
学科分类号：
1002 ; 100201 ;
摘要：
An infant born at 38-weeks' gestation presented with ambiguous genitalia. Cytogenetic evaluation revealed an uncommon 45,X/46,X,idic(Y) mosaic karyotype. Pelvic ultrasonography, genitogram, and magnetic resonance imaging confirmed a long common urogenital sinus, vagina, cervix, unicornuate uterus, phallus, and bilateral intra-abdominal gonads resembling testes. The parents chose a male sex of rearing, and the infant underwent total abdominal hysterectomy, vaginectomy, bilateral gonadectomy, and first-stage hypospadias repair at 19 months of age. The histopathologic findings were consistent with ovotesticular disorder of sex development with a unique combination of testis and ovary on the left and testis and streak gonad on the right. UROLOGY 78: 1178-1181, 2011. (C) 2011 Elsevier Inc.
引用
收藏
页码：1178 / 1181
页数：4
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