ANTI-MULLERIAN HORMONE IN CHILDREN WITH ANDROGEN INSENSITIVITY

Anti-Mullerian hormone (AMH), also called Mullerian inhibiting substan ce or factor, is secreted in high amounts by the immature Sertoli cell ; it is negatively regulated by testosterone at puberty. In the presen t study, we measured serum AMH in 20 patients with defects of androgen synthesis or action: 9 with complete androgen insensitivity syndrome, 9 with a partial form, 1 patient with 3 beta-hydroxysteroid dehydroge nase deficiency, and 1 with Leydig cell agenesis. AMH was also determi ned in 15 control patients with idiopathic male pseudohermaphroditism. The serum AMH concentration was elevated in all testosterone-insensit ive or -deficient patients compared with control levels during the fir st year of life. From 1 yr of age to the onset of puberty, serum AMH l evels in patients with androgen insensitivity returned to normal value s, but after pubertal development began, AMH levels again rose to extr emely high levels in the complete androgen insensitivity syndrome. The se results suggest that AMH is negatively regulated by testosterone no t only at puberty, but also during the postnatal period. An elevation of serum AMH appears to be an interesting marker of androgen resistanc e or defect of androgen production in sexually ambiguous male infants.