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
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
相关论文
共 15 条
[1]  
Gole LA, 2008, SINGAP MED J, V49, P349
[2]   Ovotesticular disorder of sex development with a prostatic gland and review of literature [J].
Irkilata, H. C. ;
Basal, S. ;
Taslipinar, A. ;
Gur, A. ;
Piskin, M. M. ;
Kurt, B. ;
Tahmaz, L. ;
Bolu, E. ;
Dayanc, M. .
ANDROLOGIA, 2009, 41 (06) :387-391
[3]   TRUE HERMAPHRODITISM - GEOGRAPHICAL-DISTRIBUTION, CLINICAL FINDINGS, CHROMOSOMES AND GONADAL HISTOLOGY [J].
KROB, G ;
BRAUN, A ;
KUHNLE, U .
EUROPEAN JOURNAL OF PEDIATRICS, 1994, 153 (01) :2-10
[4]  
Lee Peter A, 2006, Pediatrics, V118, pe488
[5]   Clinical management and molecular cytogenetic characterization in a 45,X/46,X,idic(Yp) patient with severe hypospadia [J].
Marrocco, G ;
Poscente, M ;
Majore, S ;
De Bernardo, C ;
Rinaldi, R ;
Del Porto, G ;
Storniello, G ;
Grammatico, P .
JOURNAL OF PEDIATRIC SURGERY, 2003, 38 (08) :1258-1262
[6]   AMBIGUOUS GENITALIA IN A NEWBORN WITH 45,X/46,X,IDIC(Y) OVOTESTICULAR DISORDER OF SEX DEVELOPMENT [J].
Pascual, James ;
McMann, Leah P. ;
Gallagher, Thomas ;
Pinsker, Jordan E. .
ENDOCRINE PRACTICE, 2009, 15 (07) :732-736
[7]  
QUIGLEY MM, 1981, OBSTET GYNECOL, V58, P253
[8]   Pregnancy in True Hermaphrodites and All Male Offspring to Date [J].
Schultz, Brett A. H. ;
Roberts, Soldrea ;
Rodgers, Allison ;
Ataya, Khalid .
OBSTETRICS AND GYNECOLOGY, 2009, 113 (02) :534-536
[9]   TRUE HERMAPHRODITISM WITH OOGENESIS AND SPERMATOGENESIS [J].
SHANNON, R ;
NICOLAIDES, NJ .
AUSTRALIAN & NEW ZEALAND JOURNAL OF OBSTETRICS & GYNAECOLOGY, 1973, 13 (03) :184-187
[10]   Atypical true hermaphroditism with a mosaic 45,X/46,X,dic(Y) (q11.2) karyotype [J].
Shimoda, N ;
Sato, K ;
Satoh, S ;
Ogawa, O ;
Ito, S ;
Kato, T .
JOURNAL OF UROLOGY, 1998, 160 (04) :1434-1435