A case of agonadism associated with Y-chromosome rearrangement: Cytogenetic and molecular studies

Journal of Andrology

Volumn 30, Issue 6, 2009, Pages 650-654

  Cui, Ying Xia ^a   Shi, Yi Chao ^a   Liu, Qi ^a   Xia, Xin Yi ^a   Lu, Hong Yong ^a   Shao, Hai Feng ^a   Jia, Li ^a   Yao, Bing ^a   Ge, Yi Feng ^a   Li, Xiao Jun ^a   Huang, Yu Feng ^a  

^a MEDICAL SCHOOL OF NANJING UNIVERSITY   (China)

Author keywords

Expression analysis; Rearranged Y chromosome; SHOX gene; SRY gene; XY agonadism

Indexed keywords

ANDROGEN; CHORIONIC GONADOTROPIN; GROWTH HORMONE; MICROSATELLITE DNA;

ADOLESCENT; ARTICLE; BREAST DEVELOPMENT; CASE REPORT; CHROMOSOME REARRANGEMENT; CYTOGENETICS; EMBRYO DEVELOPMENT; EMBRYONIC STRUCTURES; FEMALE; FEMALE GENITAL SYSTEM; FLUORESCENCE IN SITU HYBRIDIZATION; GENE EXPRESSION; GENE SEQUENCE; GENETIC TRANSCRIPTION; GONAD; GONADAL AGENESIS; GROWTH HORMONE BLOOD LEVEL; HORMONE RELEASE; HUMAN; HYPERGONADOTROPIC HYPOGONADISM; KARYOTYPE 46,XY; LAPAROTOMY; MENTAL DEVELOPMENT; PHENOTYPE; PRIMARY AMENORRHEA; PRIORITY JOURNAL; SHORT STATURE; STIMULUS RESPONSE; UTERINE TUBE; UTERUS; Y CHROMOSOME;

ADOLESCENT; BODY HEIGHT; CHROMOSOMES, HUMAN, Y; FEMALE; GENE DUPLICATION; GENE EXPRESSION PROFILING; GONADAL DYSGENESIS, 46,XY; HOMEODOMAIN PROTEINS; HUMANS; IN SITU HYBRIDIZATION, FLUORESCENCE; NUCLEAR PROTEINS; SEX CHROMOSOME ABERRATIONS; SOXB1 TRANSCRIPTION FACTORS; UBIQUITIN THIOLESTERASE;

EID: 71949114944     PISSN: 01963635     EISSN: None     Source Type: Journal    
DOI: 10.2164/jandrol.108.006353     Document Type: Article

References (16)

1. Bertini V, Canale D, Bicocchi MP, Simi P, Valetto A. Mosaic ring Y chromosome in two normal healthy men with azoospermia. Fertil Steril. 2005;84:1744. (Pubitemid 41785675)
2. Bullejos M, Koopman P. Delayed Sry and Sox9 expression in developing mouse gonads underlies B6-Y(DOM) sex reversal. Dev Biol. 2005;278:473-481. (Pubitemid 40175043)
3. Capel B, Rasberry C, Dyson J, Bishop CE, Simpson E, Vivian N, Lovell-Badge R, Rastan S, Cattanach BM. Deletion of Y chromosome sequences located outside the testis determining region can cause XY female sex reversal. Nat Genet. 1993;5:301-307. (Pubitemid 23330397)
4. Foresta C, Ferlin A, Moro E. Deletion and expression analysis of AZFa genes on the human Y chromosome revealed a major role for DBY in male infertility. Hum Mol Genet. 2000;9:1161-1169. (Pubitemid 30248601)
5. Gimelli G, Giorda R, Beri S, Gimelli S, Zuffardi O. A 46,X,inv(Y) young woman with gonadal dysgenesis and gonadoblastoma: cytogenetics, molecular, and methylation studies. Am J Med Genet A. 2006;140:40-45. (Pubitemid 43054033)
6. Hsu LY. Phenotype/karyotype correlations of Y chromosome aneuploidy with emphasis on structural aberrations in postnatally diagnosed cases. Am J Med Genet. 1994;53:108-140.
7. Kennerknecht I, Sorgo W, Oberhoffer R, Teller WM, Mattfeldt T, Negri G, Vogel W. Familial occurrence of agonadism and multiple internal malformations in phenotypically normal girls with 46,XY and 46,XX karyotypes, respectively: a new autosomal recessive syndrome. Am J Med Genet. 1993;47:1166-1170. (Pubitemid 23340176)
8. Koopman P, Münsterberg A, Capel B, Vivian N, Lovell-Badge R. Expression of a candidate sex-determining gene during mouse testis differentiation. Nature. 1990;348:450-452. (Pubitemid 120015087)
9. Leka SK, Kitsiou-Tzeli S, Kalpini-Mavrou A, Kanavakis E. Short stature and dysmorphology associated with defects in the SHOX gene. Hormones. 2006;5:107-118.
10. Munns CJ, Haase HR, Crowther LM, Hayes MT, Blaschke R, Rappold G, Glass IA, Batch JA. Expression of SHOX in human fetal and childhood growth plate. J Clin Endocrinol Metab. 2004;89:4130-4135. (Pubitemid 39071523)
11. Rao E, Blaschke RJ, Marchini A, Niesler B, Burnett M, Rappold GA. The Leri-Weill and Turner syndrome homeobox gene SHOX encodes a cell-type specific transcriptional activator. Hum Mol Genet. 2001;10:3083-3091. (Pubitemid 34083494)
12. Rao E, Weiss B, Fukami M, Rump A, Niesler B, Mertz A, Muroya K, Binder G, Kirsch S, Winkelmann M, Nordsiek G, Heinrich U, Breuning MH, Ranke MB, Rosenthal A, Ogata T, Rappold GA. Pseudoautosomal deletions encompassing a novel homeobox gene cause growth failure in idiopathic short stature and Turner syndrome. Nat Genet. 1997;16:54-63. (Pubitemid 27198156)
13. Rappold G, Blum WF, Shavrikova EP, Crowe BJ, Roeth R, Quigley CA, Ross JL, Niesler B. Genotypes and phenotypes in children with short stature: clinical indicators of SHOX haploinsufficiency. J Med Genet. 2007;44:306-313. (Pubitemid 46732624)
14. Sarto GE, Opitz JM. The XY gonadal agenesis syndrome. J Med Genet. 1973;10:288-293.
15. Siffroi JP, Le Bourhis C, Krausz C, Barbaux S, Quintana-Murci L, Kanafani S, Rouba H, Bujan L, Bourrouillou G, Seifer I. Sex chromosome mosaicism in males carrying Y chromosome long arm deletions. Hum Reprod. 2000;15:2559-2562. (Pubitemid 32000512)
16. Zenteno JC, Jiménez AL, Canto P, Valdéz H, Méndez JP, Kofman-Alfaro S. Clinical expression and SRY gene analysis in XY subjects lacking gonadal tissue. Am J Med Genet. 2001;99:244-247.