Factors that influence the decision to perform a karyotype in suspected disorders of sex development: Lessons from the scottish genital anomaly network register

Sexual Development

Volumn 5, Issue 3, 2011, Pages 103-108

  Rodie, M ^a   McGowan, R ^b   Mayo, A ^c   Midgley, P ^d   Driver, C P ^e   Kinney, M ^e   Young, D ^f   Ahmed, S F ^a,g  

^a Department of Child Health ^*  (United Kingdom)

^b ROYAL HOSPITAL FOR SICK CHILDREN   (United Kingdom)

^c ROYAL ABERDEEN CHILDREN S HOSPITAL   (United Kingdom)

^d UNIVERSITY OF EDINBURGH   (United Kingdom)

^e HEALTHCARE IMPROVEMENT SCOTLAND   (United Kingdom)

^f UNIVERSITY OF STRATHCLYDE   (United Kingdom)

^g UNIVERSITY OF GLASGOW   (United Kingdom)

Author keywords

Approach; Disorder of sexual development; Intersex; Investigations

Indexed keywords

ARTICLE; DECISION MAKING; FEMALE; GENETIC SCREENING; GENETICS; HUMAN; KARYOTYPING; MALE; NEWBORN; NEWBORN SCREENING; SEX DIFFERENTIATION DISORDER;

DECISION MAKING; DISORDERS OF SEX DEVELOPMENT; FEMALE; GENETIC TESTING; HUMANS; INFANT, NEWBORN; KARYOTYPING; MALE; NEONATAL SCREENING;

EID: 79958768847     PISSN: 16615425     EISSN: 16615433     Source Type: Journal    
DOI: 10.1159/000326815     Document Type: Article

References (20)

1. Aarskog D: Clinical and cytogenetic studies in hypospadias. Acta Paediatr Scand Suppl 203: 1 (1970).
2. Ahmed SF, Rodie M: Investigation and initial management of ambiguous genitalia. Best Pract Res Clin Endocrinol Metab 24: 197-218 (2010).
3. Ahmed SF, Khwaja O, Hughes IA: The role of a clinical score in the assessment of ambiguous genitalia. BJU Int 85: 120-124 (2000). (Pubitemid 30072462)
4. Ahmed SF, Dobbie R, Finlayson AR, Gilbert J, Youngson G, et al: Prevalence of hypospadias and other genital anomalies among singleton births, 1988-1997, in Scotland. Arch Dis Child Fetal Neonatal Ed 89:F149-F151 (2004). (Pubitemid 38338813)
5. Ahmed SF, Rodie ME, Jiang J, Sinnott RO: The European disorder of sex development registry: a virtual research environment.Sex Dev 4: 192-198 (2010).
6. Arcari AJ, Bergada I, Rey RA, Gottlieb S: Predictive value of anatomical findings and karyotype analysis in the diagnosis of patients with disorders of sexual development. Sex Dev 1: 222-229 (2007). (Pubitemid 47236992)
7. Boehmer AL, Nijman RJ, Lameers BA, de Coninck SJ, Van Hemel JO, et al: Etiological studies of severe or familial hypospadias. J Urol 165: 1246-1254 (2001). (Pubitemid 32210268)
8. Chen YC, Woolley PV: Genetics studies on hypospadias in males. J Med Genet 8: 153-159 (1971).
9. Cox MJ, Copplen DE, Austin PF: The incidence of disorders of sexual differentiation and chromosomal abnormalities of cryptorchidism and hypospadias stratified by meatal location. J Urol 180: 2649-2652 (2008).
10. Duckett J: Successful hypospadias repair. Contemp Urol 4: 42 (1992).
11. Hughes IA, Houk C, Ahmed SF, Lee PA; LWPES Consensus Group; ESPE Consensus Group: Consensus statement on management of intersex disorders. Arch Dis Child 91: 554-563 (2006). (Pubitemid 44023350)
12. Kaefer M, Diamond D, Hendren WH, Vemulapalli S, Bauer SB, et al: The incidence of intersexuality in children with cryptorchidism and hypospadias: stratification based on gonadal palpability and meatal position. J Urol 162: 1003-1007 (1999). (Pubitemid 29434661)
13. Leung AK, Robson WL: Hypospadias: an update. Asian J Androl 9: 16-22 (2007). (Pubitemid 46050214)
14. McAleer IM, Kaplan GW: Is routine karyotyping necessary in the evaluation of hypospadias and cryptorchidism? J Urol 165: 2029-2032 (2001).
15. Moreno-Garcia M, Miranda EB: Chromosomal anomalies in cryptorchidism and hypospadias. J Urol 168: 2170-2172 (2002).
16. Nicolino M, Bendelac N, Jay N, Forest MG, David M: Clinical and biological assessments of the undervirilized male. BJU Int 93: 20-25 (2004). (Pubitemid 38580910)
17. Rajfer J, Walsh PC: The incidence of intersexuality in patients with hypospadias and cryptorchidism. J Urol 116: 769 (1976).
18. Rohatgi M, Menon PSN, Verma IC, Iyengar JK: The presence of intersexuality in patients with advanced hypospadias and undescended gonads. J Urol 137: 263-267 (1987). (Pubitemid 17016647)
19. Thyen U, Lanz K, Holterhus PM, Hiort O: Epidemiology and initial management of ambiguous genitalia at birth in Germany. Horm Res 66: 195-203 (2006). (Pubitemid 44413281)
20. Yamaguchi T, Kitada S, Osada Y: Chromosomal anomalies in cryptorchidism and hypospadias. Urol Int 47: 60-63 (1991).