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By Sean Kehoe, Lyn Chitty, Tessa Homfray

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4. 5. 6. 7. 8. 9. 10. 11. 12. 13. 14. Hughes IA, Houk C, Ahmed SF, Lee PA. LWPES Consensus Group; ESPE Consensus Group. Consensus statement on management of intersex disorders. Arch Dis Child 2006;91:554–63. Lee PA, Houk CP, Ahmed SF, Hughes IA. Writing Group for the International Intersex Consensus Conference Participants. Consensus statement on management of intersex disorders. International Intersex Consensus Conference. Pediatrics 2006;118:753–7. Achermann JC, Hughes IA. Disorders of sex development.

18 Their myotonia often deteriorates during pregnancy and they are prone to obstetric complications including prolonged labour, placenta praevia and postpartum haemorrhage. 19 Ovarian stimulation Although the method of pituitary downregulation, ovarian stimulation, oocyte collection and embryo transfer will differ from centre to centre, broadly similar protocols exist. 1). 28–32 It is used in some centres to assess maternal genotype but this is of no value where the autosomal dominant single-gene condition or chromosome rearrangement is paternally inherited.

Eur J Pediatr 1994;153:2–10. Mendonca BB, Domenice S, Arnhold IJ, Costa EM. 46,XY disorders of sex development (DSD). Clin Endocrinol 2009;70:173–87. Lin L, Philibert P, Ferraz-de-Souza B, Kelberman D, Homfray T, Albanese A, et al. Heterozygous missense mutations in steroidogenic factor 1 (SF1/Ad4BP, NR5A1) are associated with 46,XY disorders of sex development with normal adrenal function. J Clin Endocrinol Metab 2007;92:991–9. Speiser PW, White PC. Congenital adrenal hyperplasia. N Engl J Med 2003;349:776–88.

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