Anti-Müllerian hormone as a marker of steroid and gonadotropin action in the testis ofchildren and adolescents with disorders of the gonadal axis

EDELSZTEIN N; GRINSPON RP; SCHTEINGART, H; REY RA

International Journal of Pediatric Endocrinology

BioMed Central

Lugar: London; Año: 2016

1687-9856

In pediatric patients, basal testosterone andgonadotropin levels may be uninformative in the assessment of testicularfunction. Measurement of serum anti-Müllerian hormone (AMH) has becomeincreasingly widespread since it provides information about the activity of themale gonad without the need for dynamic tests, and also reflects the action ofFSH and androgens within the testis. AMH is secreted in high amounts by Sertolicells from fetal life until the onset of puberty. Basal AMH expression is notdependent on gonadotropins or sex steroids; however, FSH further increases andtestosterone inhibits AMH production. During puberty, testosterone inducesSertoli cell maturation, and prevails over FSH on AMH regulation. Therefore,AMH production decreases. Serum AMH is undetectable in patients with congenitalor acquired anorchidism, or with complete gonadal dysgenesis. Low circulatinglevels of AMH may reflect primary testicular dysfunction, e.g. in certainpatients with cryptorchidism, monorchidism, partial gonadal dysgenesis, orcentral hypogonadism. AMH is low in boys with precocious puberty, but itincreases to prepubertal levels after successful treatment. Conversely, serumAMH remains at high, prepubertal levels in boys with constitutional delay ofpuberty. Serum AMH measurements are useful, together with testosteronedetermination, in the diagnosis of patients with ambiguous genitalia: both arelow in patients with gonadal dysgenesis, including ovotesticular disorders ofsex development, testosterone is low but AMH is in the normal male range orhigher in patients with disorders of androgen synthesis, and both hormones arenormal or high in patients with androgen insensitivity. Finally, elevation ofserum AMH above normal male prepubertal levels may be indicative of rare casesof sex-cord stromal tumors or Sertoli cell-limited disturbance in the McCuneAlbright syndrome.