Serum concentrations of Anti-Müllerian Hormone (AMH) in 95 patients with Klinefelter syndrome with or without cryptorchidism
Article first published online: 25 FEB 2011
© 2011 The Author(s)/Acta Pædiatrica © 2011 Foundation Acta Pædiatrica
Volume 100, Issue 6, pages 839–845, June 2011
How to Cite
Aksglaede, L., Christiansen, P., Sørensen, K., Boas, M., Linneberg, A., Main, K. M., Andersson, A.-M., Skakkebæk, N. E. and Juul, A. (2011), Serum concentrations of Anti-Müllerian Hormone (AMH) in 95 patients with Klinefelter syndrome with or without cryptorchidism. Acta Paediatrica, 100: 839–845. doi: 10.1111/j.1651-2227.2011.02148.x
- Issue published online: 27 APR 2011
- Article first published online: 25 FEB 2011
- Accepted manuscript online: 19 JAN 2011 11:02AM EST
- Received 15 September 2010; revised 22 December 2010; accepted 27 December 2010.
- Anti-Müllerian hormone;
- Klinefelter syndrome
Aim: Anti-Müllerian hormone (AMH) is produced by foetal Sertoli cells at the time of sexual differentiation and is responsible for the regression of the Müllerian ducts in the male foetus. AMH is a testis-specific marker of diagnostic value in infants with ambiguous genitalia or with bilateral cryptorchidism. However, little is known about AMH in boys and adult men with normal or abnormal gonadal function. We therefore aimed at determining circulating AMH concentrations in patients with 47,XXY Klinefelter syndrome (KS) with or without cryptorchidism.
Methods: AMH was determined in 95 47,XXY patients aged 0.2–64.5 years, of which 12 patients had a history of cryptorchidism.
Results: AMH was within the normal range in boys with Klinefelter syndrome until puberty. The pubertal decline was delayed, especially in patients with a history of cryptorchidism. AMH was below −2 SD in 85% of adult KS.
Conclusion: AMH secretion in patients with 47,XXY KS was within normal limits during mini-puberty and until puberty. Thereafter, AMH declined to subnormal levels in all patients. We hypothesize that this decline was a result of the hyalinization of seminiferous tubules in relation to puberty, rather than caused by disrupted regulatory mechanisms at the level of the pituitary–gonadal axis.