• PMID: 21251056
• Gene Name: AMH
• Condition: Klinefelter syndrome, cryptorchidism.
• Association: 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.
• Population size: 95
• Population details: 95 47,XXY patients
• Sex: Male
• Infertility type: Male infertility
• Other associated phenotypes: Klinefelter syndrome, cryptorchidism.

Serum concentrations of Anti-Müllerian Hormone (AMH) in 95 patients with Klinefelter syndrome with or without cryptorchidism

Aksglaede L, Christiansen P, Sørensen K, Boas M, Linneberg A, Main KM, Andersson AM, Skakkebaek NE, Juul A.

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. CI - © 2011 The Author(s)/Acta Paediatrica © 2011 Foundation Acta Paediatrica. FAU - Aksglaede, Lise AU - Aksglaede L AD - University Department of Growth and Reproduction, Rigshospitalet, Copenhagen, Denmark. lise.aksglaede@rh.regionh.dk FAU - Christiansen, Peter AU - Christiansen P FAU - Sørensen, Kaspar AU - Sørensen K FAU - Boas, Malene AU - Boas M FAU - Linneberg, Allan AU - Linneberg A FAU - Main, Katharina M AU - Main KM FAU - Andersson, Anna-Maria AU - Andersson AM FAU - Skakkebaek, Niels E AU - Skakkebaek NE