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


CONCLUSIONS
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.
University Department of Growth and Reproduction, Rigshospitalet, Copenhagen, Denmark. lise.aksglaede@rh.regionh.dk
Lise
L
Aksglaede
Peter
P
Christiansen
Kaspar
K
Sørensen
Malene
M
Boas
Allan
A
Linneberg
Katharina M
KM
Main
Anna-Maria
AM
Andersson
Niels E
NE
Skakkebaek
Anders
A
Juul
D000293:Adolescent; D000328:Adult; D000368:Aged; D054304:Anti-Mullerian Hormone / Q000097:blood*; D016022:Case-Control Studies; D002648:Child; D002675:Child, Preschool; D003456:Cryptorchidism / Q000097:blood* / Q000150:complications; D005640:Follicle Stimulating Hormone / Q000097:blood; D006801:Humans; D007223:Infant; D007713:Klinefelter Syndrome / Q000097:blood* / Q000150:complications; D007986:Luteinizing Hormone / Q000097:blood; D008297:Male; D008875:Middle Aged; D011627:Puberty / Q000097:blood; D013739:Testosterone / Q000097:blood / Q000627:therapeutic use; D055815:Young Adult
D013739:Testosterone; D054304:Anti-Mullerian Hormone; D007986:Luteinizing Hormone; D005640:Follicle Stimulating Hormone