Atypical genitalia in neonates

References

Key articles

MacLaughlin DT, Donahoe PK. Sex determination and differentiation. N Engl J Med. 2004 Jan 22;350(4):367-78. Abstract

Lee PA, Houk CP, Ahmed SF, et al. Consensus statement on management of intersex disorders: International Consensus Conference on Intersex. Pediatrics. 2006 Aug;118(2):e488-500 Abstract

Lambert SM, Vilain EJ, Kolon TF. A practical approach to ambiguous genitalia in the newborn period. Urol Clin North Am. 2010 May;37(2):195-205. Abstract

Davies JH, Cheetham T. Recognition and assessment of atypical and ambiguous genitalia in the newborn. Arch Dis Child. 2017 Apr 25 [Epub ahead of print]. Abstract

Chavhan GB, Parra DA, Oudjhane K, et al. Imaging of ambiguous genitalia: classification and diagnostic approach. Radiographics. 2008 Nov-Dec;28(7):1891-904. Abstract

Brain CE, Creighton SM, Mushtaq I, et al. Holistic management of DSD. Best Pract Res Clin Endocrinol Metab. 2010 Apr;24(2):335-54.Full text  Abstract

Mieszczak J, Houk CP, Lee PA. Assignment of the sex of rearing in the neonate with a disorder of sex development. Curr Opin Pediatr. 2009 Aug;21(4):541-7. Abstract

Reference articles

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3. Ahmed SF, Dobbie R, Finlayson AR, et al. Prevalence of hypospadias and other genital anomalies among singleton births, 1988-1997, in Scotland. Arch Dis Child Fetal Neonatal Ed. 2004 Mar;89(2):F149-51.Full text  Abstract

4. Rodie ME, Ali SR, Jayasena A, et al. A nationwide study of the prevalence and initial management of atypical genitalia in the newborn in Scotland. Sex Dev. 2022;16(1):11-8.Full text  Abstract

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9. MacLaughlin DT, Donahoe PK. Sex determination and differentiation. N Engl J Med. 2004 Jan 22;350(4):367-78. Abstract

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13. Lee PA, Houk CP, Ahmed SF, et al. Consensus statement on management of intersex disorders: International Consensus Conference on Intersex. Pediatrics. 2006 Aug;118(2):e488-500 Abstract

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18. Guerra-Júnior G, Maciel-Guerra AT. The role of the pediatrician in the management of children with genital ambiguities. J Pediatr (Rio J). 2007 Nov;83(5 Suppl):S184-91. Abstract

19. Lambert SM, Vilain EJ, Kolon TF. A practical approach to ambiguous genitalia in the newborn period. Urol Clin North Am. 2010 May;37(2):195-205. Abstract

20. Davies JH, Cheetham T. Recognition and assessment of atypical and ambiguous genitalia in the newborn. Arch Dis Child. 2017 Apr 25 [Epub ahead of print]. Abstract

21. Ahmed SF, Achermann JC, Arlt W, et al. Society for Endocrinology UK guidance on the initial evaluation of an infant or an adolescent with a suspected disorder of sex development (revised 2015). Clin Endocrinol (Oxf). 2016 May;84(5):771-88.Full text  Abstract

22. Ahmed SF, Khwaja O, Hughes IA. The role of a clinical score in the assessment of ambiguous genitalia. BJU Int 2000 Jan;85(1):120-4.Full text  Abstract

23. van der Straaten S, Springer A, Zecic A, et al. The external genitalia score (EGS): A European Multicenter Validation Study. J Clin Endocrinol Metab. 2020 Mar 1;105(3):.Full text  Abstract

24. Tuladhar R, Davis PG, Batch J, et al. Establishment of a normal range of penile length in preterm infants. J Paediatr Child Health. 1998 Oct;34(5):471-3. Abstract

25. Ahmed SF, Bashamboo A, Lucas-Herald A, et al. Understanding the genetic aetiology in patients with XY DSD. Br Med Bull. 2013;106:67-89.Full text  Abstract

26. Chavhan GB, Parra DA, Oudjhane K, et al. Imaging of ambiguous genitalia: classification and diagnostic approach. Radiographics. 2008 Nov-Dec;28(7):1891-904. Abstract

27. European Association of Urology; European Society for Paediatric Urology. Guidelines on paediatric urology. 2019 [internet publication].Full text

28. El-Sherbiny M. Disorders of sexual differentiation: II. Diagnosis and treatment. Arab J Urol. 2013;11:27-32.Full text

29. Brain CE, Creighton SM, Mushtaq I, et al. Holistic management of DSD. Best Pract Res Clin Endocrinol Metab. 2010 Apr;24(2):335-54.Full text  Abstract

30. Mieszczak J, Houk CP, Lee PA. Assignment of the sex of rearing in the neonate with a disorder of sex development. Curr Opin Pediatr. 2009 Aug;21(4):541-7. Abstract

31. Fallat ME, Donahoe PK. Intersex genetic anomalies with malignant potential. Curr Opin Pediatr. 2006 Jun;18(3):305-11. Abstract

32. BMJ Best Practice. Congenital adrenal hyperplasia. July 2016. [internet publication].Full text

33. Palmer BW, Wisniewski AB, Schaeffer TL, et al. A model of delivering multi-disciplinary care to people with 46 XY DSD. J Pediatr Urol. 2012 Feb;8(1):7-16. Abstract

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