Paediatric Applications of Anti-Müllerian Hormone Research

Anti-müllerian hormone (AMH), a member of the transforming growth factor family also called müllerian-inhibiting substance or factor, is produced by immature Sertoli cells and, in much smaller amounts, by postnatal granulosa cells. Its paediatric applications are essentially diagnostic. Measurement of AMH concentration in serum by an enzyme-linked immunosorbent assay does not require prior gonadal stimulation and is useful to detect the presence of testicular tissue and assess its function before puberty. The assay can easily differentiate between bilateral cryptorchidism and anorchia and discriminates between non-adrenal female pseudohermaphroditism and true hermaphroditism, although in the latter condition, the serum AMH concentration is usually low because of testicular dysgenesis. After puberty, AMH becomes low or undetectable, due to down-regulation of AMH production by testosterone. This does not occur in androgen-insensitive patients. A rare form of male pseudohermaphroditism, the persistent müllerian duct syndrome, characterized by the persistence of a uterus and tubes in otherwise normally virilized males, is due to defects in genes coding for AMH or its receptor. Measurement of serum AMH concentration discriminates between the two aetiological forms of the syndrome.