Denys-Drash syndrome and gonadoblastoma in a patient with Klinefelter syndrome

Clinical Dysmorphology

Volumn 20, Issue 3, 2011, Pages 131-135

  Tanteles, George A ^a   Oakley, Susan ^b   Christian, Martin ^b   O'Neill, David ^b   Suri, Mohnish ^a  

^a NOTTINGHAM CITY HOSPITAL   (United Kingdom)

^b QUEEN S MEDICAL CENTRE   (United Kingdom)

Author keywords

[No Author keywords available]

Indexed keywords

WT1 PROTEIN;

ANAMNESIS; ARTICLE; CASE REPORT; CHILD; DENYS DRASH SYNDROME; DISEASE ASSOCIATION; FEMALE; GENE MUTATION; GENETIC SCREENING; GONADECTOMY; GONADOBLASTOMA; HISTOPATHOLOGY; HUMAN; HUMAN TISSUE; KLINEFELTER SYNDROME; LABORATORY TEST; NEPHRECTOMY; NEPHROBLASTOMA; PRESCHOOL CHILD; PRIORITY JOURNAL;

BASE SEQUENCE; CHILD, PRESCHOOL; DENYS-DRASH SYNDROME; FEMALE; GONADOBLASTOMA; GONADS; HETEROZYGOTE; HUMANS; INFANT; KIDNEY; KIDNEY TRANSPLANTATION; KLINEFELTER SYNDROME; MUTATION, MISSENSE; NEPHRECTOMY; TREATMENT OUTCOME; WT1 PROTEINS;

EID: 79959271089     PISSN: 09628827     EISSN: 14735717     Source Type: Journal    
DOI: 10.1097/MCD.0b013e328346f6dc     Document Type: Article

References (29)

1. Aguirre D, Nieto K, Lazos M, Peña YR, Palma I, Kofman-Alfaro S, Queipo G (2006). Extragonadal germ cell tumors are often associated with Klinefelter syndrome. Hum Pathol 37:477-480.
2. Baird PN, Santos A, Groves N, Jadresic L, Cowell JK (1992). Constitutional mutations in the WT1 gene in patients with Denys-Drash syndrome. Hum Mol Genet 1:301-305.
3. Barbaux S, Niaudet P, Gubler MC, Grunfeld JP, Jaubert F, Kuttenn F, et al. (1997). Donor splice-site mutations in WT1 are responsible for Frasier syndrome. Nat Genet 17:467-470. (Pubitemid 27518399)
4. Barbosa AS, Hadjiathanasiou CG, Theodoridis C, Papathanasiou A, Tar A, Merksz M, et al. (1999). The same mutation affecting the splicing of WT1 gene is present on Frasier syndrome patients with or without Wilms? tumor. Hum Mutat 13:146-153. (Pubitemid 29059154)
5. Bruening W, Bardeesy N, Silverman BL, Cohn RA, Machin GA, Aronson AJ, et al. (1992). Germline intronic and exonic mutations in the Wilms? tumour gene (WT1) affecting urogenital development. Nat Genet 1:144-148.
6. Denys P, Malvaux P, Van Den Berghe H, Tanghe W, Proesmans W (1967). Association of an anatomo-pathological syndrome of male pseudohermaphroditism, Wilms? tumor, parenchymatous nephropathy and XX/XY mosaicism. Arch Fr Pediatr 24:729-739.
7. Donahoe PK, Crawford JD, Hendren WH (1979). Mixed gonadal dysgenesis, pathogenesis, and management. J Pediatr Surg 14:287-300. (Pubitemid 9166564)
8. Drash A, Sherman F, Hartmann WH, Blizzard RM (1970). A syndrome of pseudohermaphroditism,Wilms? tumor, hypertension, and degenerative renal disease. J Pediatr 76:585-593.
9. Eddy AA, Mauer SM (1985). Pseudohermaphroditism, glomerulopathy, and Wilms tumor (Drash syndrome): frequency in end-stage renal failure. J Pediatr 106:584-587. (Pubitemid 15080546)
10. Frasier SD, Bashore RA, Mosier HD (1964). Gonadoblastoma associated with pure gonadal dysgenesis in monozygous twins. J Pediatr 64:740-745.
11. Habib R, Loirat C, Gubler MC, Niaudet P, Bensman A, Levy M, Broyer M (1985). The nephropathy associated with male pseudohermaphroditism and Wilms? tumor (Drash syndrome): a distinctive glomerular lesion-report of 10 cases. Clin Nephrol 24:269-278. (Pubitemid 16186426)
12. Hastie ND (1994). The genetics of Wilms? tumor: a case of disrupted development. Annu Rev Genet 28:523-558.
13. Hersmus R, de Leeuw BH,Wolffenbuttel KP, Drop SL, Oosterhuis JW, Cools M, Looijenga LH (2008). New insights into type II germ cell tumor pathogenesis based on studies of patients with various forms of disorders of sex development (DSD). Mol Cell Endocrinol 291:1-10.
14. Hook EB (1992). Chromosome abnormalities: prevalence, risks and recurrence. In: Brock DLH, Rodeck CH, Ferguson-Smith MA, editors. Prenatal diagnosis and screening. Edinburgh: Churchill Livingstone; pp. 351-392.
15. Jacobs PA, Strong JA (1959). A case of human intersexuality having a possible XXY sex-determining mechanism. Nature 183:302-303.
16. Klinefelter HF, Reifenstein EC, Albright F (1942). Gynecomastia, aspermatogenesis without aleydigism and increased excretion of follicle-stimulating hormone. J Clin Endocrinol 2:615-627.
17. Little M,Wells C (1997). A clinical overview of WT1 gene mutations. Hum Mutat 9:209-225.
18. Manuel M, Katayama PK, Jones HWJr (1976). The age of occurrence of gonadal tumors in intersex patients with a Y chromosome. Am J Obstet Gynecol 124:293-300.
19. Meacham LR, Winn KJ, Culler FL, Parks JS (1991). Double vagina, cardiac, pulmonary, and other genital malformations with 46,XY karyotype. Am J Med Genet 41:478-481.
20. Miller RW, Fraumeni JF Jr, Manning MD (1964). Association of Wilms's tumor with aniridia, hemihypertrophy and other congenital malformations. N Engl J Med 270:922-927.
21. Motoyama O, Arai K, Kawamura T, Aikawa A, Ohara T, Iitaka K, Hasegawa A (2005). Clinical course of congenital nephrotic syndrome and Denys-Drash syndrome in Japan. Pediatr Int 47:607-611. (Pubitemid 43951538)
22. Mueller RF (1994). The Denys-Drash syndrome. J Med Genet 31:471-477.
23. Pelletier J, Bruening W, Kashtan CE, Mauer SM, Manivel JC, Striegel JE, et al. (1991). Germ line mutations in the Wilms? tumor suppressor gene are associated with abnormal urogenital development in Denys-Drash syndrome. Cell 67:437-447. (Pubitemid 121001458)
24. Riccardi VM, Sujansky E, Smith AC, Francke U (1978). Chromosomal imbalance in the Aniridia-Wilms? tumor association: 11p interstitial deletion. Pediatrics 61:604-610.
25. Soria JC, Durdux C, Chrétien Y, Sibony M, Damotte D, Housset M (1999). Malignant Leydig cell tumor of the testis associated with Klinefelter's syndrome. Anticancer Res 19:4491-4494. (Pubitemid 30042812)
26. Stump TA, Garrett RA (1954). Bilateral Wilms's tumor in a male pseudohermaphrodite. J Urol 72:1146-1152.
27. Suri M, Kelehan P, O?Neill D, Vadeyar S, Grant J, Ahmed SF, et al. (2007). WT1 mutations in Meacham syndrome suggest a coelomic mesothelial origin of the cardiac and diaphragmatic malformations. Am J Med Genet A 143A:2312-2320. (Pubitemid 47509647)
28. Wagner KD, Wagner N, Schedl A (2003). The complex life of WT1. J Cell Sci 116:1653-1658. (Pubitemid 36582152)
29. Woodward PJ, Heidenreich A, Looijenga H, Oosterhuis JW, McLeod DG, M?ller H, et al. (2004). World Health Organization Classification of Tumours. In: Eble JN, Sauter G, Epstein JI, Sesterhenn IA, editors. Pathology and genetics of tumours of the urinary system and male genital organs. Lyon, France: IARC Press; pp. 217-278.