Serum concentrations of Anti-Müllerian Hormone (AMH) in 95 patients with Klinefelter syndrome with or without cryptorchidism
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Serum concentrations of Anti-Müllerian Hormone (AMH) in 95 patients with Klinefelter syndrome with or without cryptorchidism. / Aksglaede, Lise; Christiansen, Peter; Sørensen, Kaspar; Boas, Malene; Linneberg, Allan; Main, Katharina M; Andersson, Anna-Maria; Skakkebaek, Niels E; Juul, Anders.
In: Acta Paediatrica, Vol. 100, No. 6, 2011, p. 839-845.Research output: Contribution to journal › Journal article › Research › peer-review
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TY - JOUR
T1 - Serum concentrations of Anti-Müllerian Hormone (AMH) in 95 patients with Klinefelter syndrome with or without cryptorchidism
AU - Aksglaede, Lise
AU - Christiansen, Peter
AU - Sørensen, Kaspar
AU - Boas, Malene
AU - Linneberg, Allan
AU - Main, Katharina M
AU - Andersson, Anna-Maria
AU - Skakkebaek, Niels E
AU - Juul, Anders
N1 - © 2011 The Author(s)/Acta Paediatrica © 2011 Foundation Acta Paediatrica.
PY - 2011
Y1 - 2011
N2 - 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.
AB - 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.
U2 - 10.1111/j.1651-2227.2011.02148.x
DO - 10.1111/j.1651-2227.2011.02148.x
M3 - Journal article
C2 - 21251056
VL - 100
SP - 839
EP - 845
JO - Acta Paediatrica
JF - Acta Paediatrica
SN - 0803-5253
IS - 6
ER -
ID: 34047583