Prepubertal diagnosis of Klinefelter syndrome due to penoscrotal malformations: Case report and review of literature

Canadian Urological Association Journal

Volumn 9, Issue 5-6, 2015, Pages E333-E336

  Hodhod, Amr ^a   Umurangwa, Florence ^a   El Sherbiny, Mohamed ^a  

^a MONTREAL CHILDREN S HOSPITAL   (Canada)

Author keywords

[No Author keywords available]

Indexed keywords

47,XXY SYNDROME; CASE REPORT; CHORDEE; FOLLOW UP; HUMAN; HYPOSPADIAS; INFANT; KARYOTYPE; KLINEFELTER SYNDROME; MALE; MALE GENITAL SYSTEM SURGERY; OUTCOME ASSESSMENT; PENOSCROTAL MALFORMATION; PHYSICAL EXAMINATION; PLASTIC SURGERY; POSTOPERATIVE PERIOD; PREPUBERTY; REVIEW; SCROTUM DISORDER; VAGINAL DELIVERY;

EID: 84929315861     PISSN: 19116470     EISSN: 19201214     Source Type: Journal    
DOI: 10.5489/cuaj.2603     Document Type: Review

References (26)

1. Blevins CH, Wilson ME. Klinefelter's syndrome. BMJ 2012;345:e7558. http://dx.doi.org/10.1136/ bmj.e7558
2. Bojesen A, Gravholt CH. Klinefelter syndrome in clinical practice. Nature Clin Pract Urol 2007;4:192-204. http://dx.doi.org/10.1038/ncpuro0775
3. Tincani BJ, Mascagni BR, Pinto RD, et al. Klinefelter syndrome: An unusual diagnosis in pediatric patients. J Pediatria 2012;88:323-7. http://dx.doi.org/10.2223/JPED.2208
4. Pacenza N, Pasqualini T, Gottlieb S, et al. Clinical presentation of Klinefelter's syndrome: Differences according to age. Int J Endocrinol 2012;2012:324835. http://dx.doi.org/10.1155/2012/324835
5. Lee YS, Cheng AW, Ahmed SF, et al. Genital anomalies in Klinefelter's syndrome. Hormone Res 2007;68:150-5. http://dx.doi.org/10.1159/000106375
6. Forouzan P. Klinefelter's syndrome and hypospadias [in French]. J Urol Nephrol 1976;82:867-70.
7. Ebisuno S, Shinka T, Ohkawa T, et al. Klinefelter's syndrome in identical twins associated with chordee without hypospadias. J Urol 1977;118:1058-60.
8. Jackson JF, Montalvo JM. Hypospadics in Klinefelter's syndrome. J Urol 1968;100:315-6.
9. Gottlieb S, Rey RA, Malozowski S. Klinefelter syndrome and cryptorchidism. JAMA 2009;301:1436-7; author reply 1437. http://dx.doi.org/10.1001/jama.2009.443
10. Shih EM, Graham JM Jr. Review of genetic and environmental factors leading to hypospadias. Eur J Med Genet 2014;57:453-63. http://dx.doi.org/10.1016/j.ejmg.2014.03.003
11. Carothers AD, Filippi G. Klinefelter's syndrome in Sardinia and Scotland. Comparative studies of parental age and other aetiological factors in 47,XXY. Hum Genet 1988;81:71-5. http://dx.doi.org/10.1007/ BF00283733
12. Bojesen A, Juul S, Gravholt CH. Prenatal and postnatal prevalence of Klinefelter syndrome: A national registry study. J Clin Endocrinol Metabol 2003;88:622-6. http://dx.doi.org/10.1210/jc.2002-021491
13. Nissen KB, Udesen A, Garne E. Hypospadias-prevalence, birth weight and associated major congenital anomalies. Congenit Anom (Kyoto) 2015;55:37-41.http://dx.doi.org/10.1111/cga.12071
14. Brouwers MM, Feitz WF, Roelofs LA, et al. Risk factors for hypospadias. Eur J Pediatr 2007;166:671-8. http://dx.doi.org/10.1007/s00431-006-0304-z
15. Kajbafzadeh AM, Baradaran N, Esfahani SA, et al. Concurrence of Klinefelter syndrome with hypospadias and chordee in identical twins: A rare presentation. Urology 2009;73:1026-8. http://dx.doi. org/10.1016/j.urology.2008.10.030
16. Parida SK, Hall BD, Barton L, et al. Penoscrotal transposition and associated anomalies: Report of five new cases and review of the literature. Am J Med Genet 1995;59:68-75. http://dx.doi.org/10.1002/ ajmg.1320590115
17. Samango-Sprouse CA, Sadeghin T, Mitchell FL, et al. Positive effects of short course androgen therapy on the neurodevelopmental outcome in boys with 47,XXY syndrome at 36 and 72 months of age. Am J Med Genet A 2013;161A:501-8. http://dx.doi.org/10.1002/ajmga35769
18. Ross JL, Samango-Sprouse C, Lahlou N, et al. Early androgen deficiency in infants and young boys with 47,XXY Klinefelter syndrome. Hormone Res 2005;64:39-45. http://dx.doi.org/10.1159/000087313
19. Lee PA, Houk CP, Ahmed SF, et al. International Consensus Conference on Intersex organized by the Lawson Wilkins Pediatric Endocrine S, the European Society for Paediatric E. Consensus statement on management of intersex disorders. International Consensus Conference on Intersex. Pediatrics 2006;118:e488-500. http://dx.doi.org/10.1542/peds.2006-0738
20. Lamy M, de G, Frezal J, Josso N, et al. Klinefelter's syndrome and hypospadias. Presence of 2 X chromosomes. Rupture of Y chromosome and translocation of its fragments [in French]. Comptes rendus hebdomadaires des seances de l'Academie des sciences 1962;255:581-3.
21. Conen PE, Erkman B, Jeffs RD. 47/Xxy Klinefelter's Syndrome in an Infant with Abnormal Genitalia. J Urol 1964;91:595-9.
22. Rosenberg D, Picot C, Goddon R, et al. Klinefelter's syndrome and hypospadias [in French]. Pediatrie 1972;27:67-8.
23. Moriyama M, Senga Y, Satomi Y. Klinefelter's syndrome with hypospadias and bilateral cryptorchidism. Urol Internationalis 1988;43:313-4. http://dx.doi.org/10.1159/000281364
24. Fuse H, Sumiya H, Takahara M, et al. Klinefelter's syndrome with prepenile scrotum. Urology 1992;40:438-40. http://dx.doi.org/10.1016/0090-4295(92)90459-A
25. Sasagawa I, Nakada T, Hashimoto T, et al. Klinefelter's syndrome associated with unilateral cryptorchidism and chordee without hypospadia. Urol Internationalis 1992;48:428-9. http://dx.doi. org/10.1159/000282369
26. Das C, Sahana PK, Sengupta N, et al. Unusual presentation of Klinefelter syndrome. Ind J Endocrinol Metabol 2013;17:S683-4. http://dx.doi.org/10.4103/2230-8210.123567