Applications of AMH in Pediatric Endocrinology.

Abstract

Anti-Müllerian hormone (AMH) is produced by Sertoli cells of the testis at high levels until puberty and by ovarian granulosa cells of primary and small growing follicles until menopausal transition. In children, serum AMH is 20-50-fold higher in boys than in girls. Due to the decrease in adult testicular production, serum AMH is only 2-5-fold higher in adult males than females. AMH is a useful marker to assess ovarian follicular reserve in girls and women in reproductive age. Conditions affecting the pool of small follicles in girls and adolescents, like Turner syndrome, galactosemia or cancer treatment, result in a decrease in circulating AMH. Conversely, serum AMH remains within the normal range in hypogonadal states where the pool of small follicles is not disrupted, like ovarian autoimmunity, FSH resistant ovaries and hypogonadotropic hypogonadism. On the other hand, serum AMH is elevated in conditions presenting with an increase follicular cell mass, like polycystic ovary syndrome or sex-cor stromal tumors. In males, serum AMH is especially useful to assess testicular function during infancy, childhood and puberty. In boys with nonpalpable gonads, AMH detection suggests the existence of intraabdominal testes whereas nondetectable serum AMH is indicative of anorchia. AMH may be low in certain categories of cryptorchid patients, but not in all of them. For instance, Klinefelter boys have normal AMH until mid-puberty. In boys with precocious puberty, AMH is low for age, and recovers normal prepubertal levels when the condition is effectively treated. Serum AMH is low in patients with hypogonadotropic hypogonadism but normal in boys with constitutional delay of puberty. Finally, serum AMH determination is helpful in the differential diagnoses of patients with disorders of sex development.