Atypical genitalia in neonates

References

Key articles

Lee PA, Nordenström A, Houk CP, et al. Global disorders of sex development update since 2006: perceptions, approach and care. Horm Res Paediatr. 2016 Jan 28;85(3):158-80.Full text  Abstract

Cools M, Nordenström A, Robeva R, et al. Caring for individuals with a difference of sex development (DSD): a Consensus Statement. Nat Rev Endocrinol. 2018 Jul;14(7):415-29.Full text  Abstract

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

1. Lee PA, Nordenström A, Houk CP, et al. Global disorders of sex development update since 2006: perceptions, approach and care. Horm Res Paediatr. 2016 Jan 28;85(3):158-80.Full text  Abstract

2. Cools M, Nordenström A, Robeva R, et al. Caring for individuals with a difference of sex development (DSD): a Consensus Statement. Nat Rev Endocrinol. 2018 Jul;14(7):415-29.Full text  Abstract

3. Blackless M, Charuvastra A, Derryck A, et al. How sexually dimorphic are we?: review and synthesis. Am J Hum Biol. 2000 Mar;12(2):151-166. Abstract

4. 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

5. 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

6. Moreno-Garcia M, Miranda EB. Chromosomal anomalies in cryptorchidism and hypospadias. J Urol. 2002 Nov;168(5):2170-2; discussion 2172.Full text  Abstract

7. Ahmed SF, Achermann J, Alderson J, et al. Society for Endocrinology UK Guidance on the initial evaluation of a suspected difference or disorder of sex development (Revised 2021). Clin Endocrinol (Oxf). 2021 Dec;95(6):818-40.Full text  Abstract

8. Morel Y, Rey R, Teinturier C, et al. Aetiological diagnosis of male sex ambiguity: a collaborative study. Eur J Pediatr. 2002 Jan;161(1):49-59. Abstract

9. Siklar Z, Berberoglu M, Adiyaman P, et al. Disorders of gonadal development: a broad clinical, cytogenetic and histopathologic spectrum. Pediatr Endocrinol Rev. 2007 Mar;4(3):210-7. Abstract

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

11. Giwercman YL, Svensson J. Androgen insensitivity syndrome [article in Norwegian]. Tidsskr Nor Laegeforen. 2008 Feb 28;128(5):581-5. Abstract

12. Grumbach MM. A window of opportunity: the diagnosis of gonadotropin deficiency in the male infant. J Clin Endocrinol Metab. 2005 May;90(5):3122-7.Full text  Abstract

13. Iovane A, Aumas C, de Roux N. New insights in the genetics of isolated hypogonadotropic hypogonadism. Eur J Endocrinol. 2004 Nov;151 Suppl 3:U83-8. Abstract

14. MacGillivray MH, Mazur T. Intersex. Adv Pediatr. 2005;52:295-319. Abstract

15. Heland S, Hewitt JK, McGillivray G, et al. Preventing female virilisation in congenital adrenal hyperplasia: the controversial role of antenatal dexamethasone. Aust N Z J Obstet Gynaecol. 2016 Jun;56(3):225-32. Abstract

16. Hirvikoski T, Nordenström A, Wedell A, et al. Prenatal dexamethasone treatment of children at risk for congenital adrenal hyperplasia: the Swedish experience and standpoint. J Clin Endocrinol Metab. 2012 Jun;97(6):1881-3.Full text  Abstract

17. Parisi MA, Ramsdell LA, Burns MW, et al. A gender assessment team: experience with 250 patients over a period of 25 years. Genet Med. 2007 Jun;9(6):348-57. Abstract

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. Jul 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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