ANTI-MULLERIAN HORMONE IN 3 INTERSEX CONDITIONS

Anti-Mullerian hormone (AMH), secreted by embryonic testicular Sertoli cells, inhibits the development of Mullerian ducts in the male. An enzyme-linked immunoassay (ELISA) for AMH was used to investigate three intersex infants. The AMH level was correlated with each patient's degree of Mullerian duct development. Complete inhibition of Mullerian structures correlated with the normal levels of AMH in the infant with testicular feminization. Detectable levels of AMH were found in the hermaphroditic infant; however, these low levels reflected Sertoli cell inadequacy of the ovotestis, which was documented by a right rudimentary Fallopian tube and a normal uterus. In the infant with persistent Mullerian duct syndrome, (PMDS), the normal Mullerian derivatives are compatible with 1) an AMH receptor defect; 2) a biologically and immunologically abnormal AMH molecule, or 3) a functional AMH deletion. The lack of detectable AMH in this infant excluded the AMH receptor abnormality and thus directed authors' search for the specific defect to the AMH gene. Thus, this ELISA for AMH is as valuable a tool to the molecular biologist studying a precise genetic error as it is to the physician making a precise clinical diagnosis.