Anti-Mullerian hormone (AMH) is a glycoprotein produced by immature Se
rtoli cells and responsible for the regression of Mullerian ducts in m
ale fetuses. The ontogeny of the hormone in early human development wa
s investigated. While no detectable AMH could be found in female fetal
serum, in males, the mean +/- S.E.M. AMH serum concentration was 40.5
+/- 3.9 ng/ml from 19 to 30 weeks (n = 13), and 28.4 +/- 6.1 ng/ml fr
om 30 weeks to term (n = 9). The latter value is significantly differe
nt from the mean AMH concentration in serum from boys aged 2 months to
2 years (43.1 +/- 3.7), suggesting that AMH production is sluggish du
ring the perinatal period. The serum AMH concentration of a 46,XX male
fetus was in the normal range for males. Using in situ hybridization,
AMH transcripts were detected in the testicular tissue of all fetuses
from 8 weeks onwards, but not in fetal ovaries nor in the yet undiffe
rentiated gonadal tissue of a 7-week-old fetus bearing male-determinin
g DNA sequences. Together, these data indicate that AMH is a reliable
marker for the presence of functional testicular tissue and, as such,
may be helpful for the diagnosis of fetal sex, particularly in the pre
sence of sex chromosome abnormalities.