By Sean Kehoe, Lyn Chitty, Tessa Homfray

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Hirvikoski T, Nordenström A, Lindholm T, Lindblad F, Ritzén EM, Wedell A, et al. Cognitive functions in children at risk for congenital adrenal hyperplasia treated prenatally with dexamethasone. J Clin Endocrinol Metab 2007;92:542–8. de Vries A, Holmes MC, Heijnis A, Seier JV, Heerden J, Louw J, et al. Prenatal dexamethasone exposure induces changes in nonhuman primate offspring cardiometabolic and hypothalamic– pituitary–adrenal axis function. J Clin Invest 2007;117:1058–67. Hirvikoski T, Nordenström A, Lindholm T, Lindblad F, Ritzén EM, Lajic S.

44. 45. 46. Avent ND, Chitty LS. Non-invasive diagnosis of fetal sex; utilisation of free fetal DNA in maternal plasma and ultrasound. Prenat Diagn 2006;26:598–603. Barbaro M, Cicognani A, Balsamo A, Lofgren A, Baldazzi L, Wedell A, et al. Gene dosage imbalances in patients with 46,XY gonadal DSD detected by an in-house-designed synthetic probe set for multiplex ligation-dependent probe amplification analysis. Clin Genet 2008;73:453–64. Mendonca BB, Billerbeck AE, de Zegher F. Nongenetic male pseudohermaphroditism and reduced prenatal growth.

G. cloacal anomalies, Robinow syndrome, Aarskog syndrome, hand-foot-genital syndrome, popliteal pterygium syndrome) 2. Persistent Müllerian duct syndrome 3. Vanishing testis syndrome 4. Isolated hypospadias 5. Congenital hypogonadotrophic hypogonadism 6. Cryptorchidism 7. Environmental influences B: Disorders of androgen synthesis or action 1. Disorders of androgen synthesis: – LH receptor mutations C: 45,X/46,XY mosaicism – Smith-Lemli-Opitz syndrome (mixed gonadal dysgenesis) – Steroidogenic acute regulatory protein – Cholesterol side-chain cleavage D: 46,XX/46,XY – 3β-hydroxysteroid dehydrogenase type 2 (chimerism) – 17α-hydroxylase/17,20-lyase – P450 oxidoreductase – 17β-hydroxysteroid dehydrogenase type 3 – 5α-reductase 2 2.

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