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

被引：9
|
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
相关论文
共 50 条
  • [1] Prophylactic Bilateral Gonadectomy for Ovotesticular Disorder of Sex Development in a Patient With Mosaic 45, X/46,X,idic(Y)q11.222 Karyotype
    Becker, Russell E. N.
    Akhavan, Ardavan
    UROLOGY CASE REPORTS, 2016, 5 : 13 - 16
  • [2] AMBIGUOUS GENITALIA IN A NEWBORN WITH 45,X/46,X,IDIC(Y) OVOTESTICULAR DISORDER OF SEX DEVELOPMENT
    Pascual, James
    McMann, Leah P.
    Gallagher, Thomas
    Pinsker, Jordan E.
    ENDOCRINE PRACTICE, 2009, 15 (07) : 732 - 736
  • [3] A case of ambiguous genitalia presenting with a 45,X/46,Xr(Y)(p11.2;q11.23)/47,X,idic(Y)(p11.2),idic(Y)(p11.2) karyotype
    Dundar, M
    Lowther, G
    Acar, H
    Kurtoglu, S
    Demiryilmaz, F
    Kucukaydin, M
    ANNALES DE GENETIQUE, 2001, 44 (01): : 5 - 8
  • [4] MIXED GONADAL DYSGENESIS WITH 45,X/46,X,IDIC(Y)/46,XY,IDIC(Y) KARYOTYPE
    Caglayan, A. O.
    Demiryilmaz, F.
    Kendirci, M.
    Ozyazgan, I.
    Akalin, H.
    Bittmann, S.
    GENETIC COUNSELING, 2009, 20 (02): : 173 - 179
  • [5] A range of phenotypes in three patients with a karyotype of 45,X46,X,idic(Y)(q11.2).
    Zaslav, AL
    Jacob, J
    Allan, S
    Blumenthal, D
    Fox, JE
    Papenhausen, P
    AMERICAN JOURNAL OF HUMAN GENETICS, 2000, 67 (04) : 163 - 163
  • [6] Mixed gonadal dysgenesis with 45,X/46,X,idic(Y) karyotype: A case report
    Srivastava, Priyanka
    Makroo, R. N.
    Chowdhry, Mohit
    Mishra, Manoj
    Fauzdar, Ashish
    INDIAN JOURNAL OF PATHOLOGY AND MICROBIOLOGY, 2011, 54 (03) : 655 - U268
  • [7] Evidence of a mechanism for isodicentric chromosome Y formation in a 45,X/46,X,idic(Y)(p11.31)/46,X,del(Y)(p11.31) mosaic karyotype
    Reshmi, Shalini C.
    Miller, Jennifer L.
    Deplewski, Dianne
    Close, Clare
    Henderson, Leslie J.
    Littlejohn, Elizabeth
    Schwartz, Stuart
    Waggoner, Darrel J.
    EUROPEAN JOURNAL OF MEDICAL GENETICS, 2011, 54 (02) : 161 - 164
  • [8] Discordant phenotypes and 45,X/46,X,idic(Y)
    Kelly, TE
    Franko, JB
    Rogol, A
    Golden, WL
    JOURNAL OF MEDICAL GENETICS, 1998, 35 (10) : 862 - 864
  • [9] Atypical true hermaphroditism with a mosaic 45,X/46,X,dic(Y) (q11.2) karyotype
    Shimoda, N
    Sato, K
    Satoh, S
    Ogawa, O
    Ito, S
    Kato, T
    JOURNAL OF UROLOGY, 1998, 160 (04): : 1434 - 1435
  • [10] MONOZYGOTIC TWINS OF DISCORDANT SEX BOTH WITH 45,X/46,X,IDIC(Y) MOSAICISM
    FUJIMOTO, A
    BOELTER, WD
    SPARKES, RS
    LIN, MS
    BATTERSBY, K
    AMERICAN JOURNAL OF MEDICAL GENETICS, 1991, 41 (02): : 239 - 245
12345