Sertoli cells are the most active cell population in the prepubertal testis. During infancy and childhood, male hypogonadism can be evidenced by assessing Sertoli cell function without the need for stimulation tests. Anti-Müllerian hormone (AMH) is a distinctive serum marker of the prepubertal Sertoli cell, which is high from foetal life until puberty. AMH production is stimulated by FSH and potently inhibited by androgens. Initially used only to distinguish between patients with Persistent Müllerian duct syndrome (PMDS) due to AMH gene mutations and those with AMH receptor mutations, AMH diagnostic usefulness has extended to patients with other forms of disorders of sex development (DSD) and prepubertal male hypogonadism more generally. In boys with nonpalpable gonads, AMH is undetectable in anorchid patients, but detectable in those with abdominal testes. In prepubertal males with foetal- or childhood-onset primary or central hypogonadism affecting the whole testis (Sertoli + Leydig cells), serum AMH is low. Conversely, when hypogonadism only affects Leydig cells, serum AMH is normal/high. AMH is also normal/high in patients with androgen insensitivity. In patients of pubertal age with central hypogonadism, AMH is low for Tanner stage reflecting lack of FSH stimulus , but high for age reflecting lack of testosterone inhibitory effect. FSH treatment results in serum AMH rise, whereas hCG treatment increases testosterone levels which inhibit AMH production. In summary, serum AMH determination is helpful in assessing gonadal function, without need for stimulation tests, and orientates the aetiological diagnosis of paediatric male hypogonadism. Furthermore, serum AMH is an excellent marker of FSH and androgen action in the testis.
Declaration of interest
Honoraria received from CONICET and royalties received from Beckman-Coulter and INSERM related to the AMH assay development and use.
Declaration of funding
This work was supported by the Consejo Nacional de Investigaciones Científicas y Técnicas (CONICET, Argentina) and Agencia Nacional de Promoción Científica y Tecnológica (ANPCYT, Argentina).