• PMID: 7962305
• Gene Name: AMH
• Condition: Androgen insensitivity
• Association: These results suggest that AMH is negatively regulated by testosterone not only at puberty, but also during the postnatal period. An elevation of serum AMH appears to be an interesting marker ofandrogen resistance or defect of androgen production in sexua
• Population size: 35
• Population details: 35 (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 dehydrogenase deficiency, and 1 with Leydig cell agenesis, 15 control patients with
• Sex: Male
• Infertility type: Male infertility
• Other associated phenotypes: Androgen insensitivity

Anti-müllerian hormone in children with androgen insensitivity

Rey R, Mebarki F, Forest MG, Mowszowicz I, Cate RL, Morel Y, Chaussain JL, Josso N.

Anti-Müllerian hormone (AMH), also called Müllerian inhibiting substance or factor, is secreted in high amounts by the immature Sertoli cell; it is negatively regulated by testosterone at puberty. In the present 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 dehydrogenase deficiency, and 1 with Leydig cell agenesis. AMH was also determined in 15 control patients with idiopathic male pseudohermaphroditism. The serum AMH concentration was elevated in all testosterone-insensitive or -deficient patients compared with control levels during the first year of life. From 1 yr of age to the onset of puberty, serum AMH levels in patients with androgen insensitivity returned to normal values, but after pubertal development began, AMH levels again rose to extremely high levels in the complete androgen insensitivity syndrome. These results suggest that AMH is negatively regulated by testosterone not only at puberty, but also during the postnatal period. An elevation of serum AMH appears to be an interesting marker of androgen resistance or defect of androgen production in sexually ambiguous male infants. FAU - Rey, R AU - Rey R AD - Unité de Recherches sur l'Endocrinologie du Développement (INSERM), Ecole Normale Supérieure, Montrouge, France. FAU - Mebarki, F AU - Mebarki F FAU - Forest, M G AU - Forest MG FAU - Mowszowicz, I AU - Mowszowicz I FAU - Cate, R L AU - Cate RL FAU - Morel, Y AU - Morel Y FAU - Chaussain, J L AU - Chaussain JL