Centro de Investigaciones Endocrinológicas (CEDIE, CONICET), Hospital de Niños Ricardo Gutiérrez, Buenos Aires, Argentina.
Horm Res Paediatr. 2010;73(2):81-92. doi: 10.1159/000277140. Epub 2010 Feb 9.
In the prepubertal male, Sertoli cells are the most active testicular cell population. Without stimulation tests, prepubertal hypogonadism can only be evidenced if Sertoli cell function is assessed. Anti-müllerian hormone (AMH) is a distinctive marker of the prepubertal Sertoli cell. Serum AMH is high from fetal life until puberty. In postnatal life, AMH testicular production is stimulated by FSH and potently inhibited by androgens. In anorchid patients, AMH is undetectable. In prepubertal males with fetal- or childhood-onset primary or central hypogonadism affecting the whole gonad, serum AMH is low. Conversely, when hypogonadism only affects Leydig cells (i.e., LH/human chorionic gonadotrophin receptor or steroidogenic enzyme defects), 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 human chorionic gonadotrophin treatment increases testosterone levels which inhibit AMH production. In conclusion, 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.
在青春期前男性中，支持细胞是最活跃的睾丸细胞群体。如果不进行刺激试验，只有在评估支持细胞功能时才能发现青春期前性腺功能减退症。抗缪勒管激素（AMH）是青春期前支持细胞的独特标志物。从胎儿期到青春期，血清 AMH 水平较高。在出生后，AMH 的睾丸产生受 FSH 刺激，并被雄激素强烈抑制。在先天性无睾症患者中，AMH 无法检测到。在因影响整个性腺的胎儿期或儿童期原发性或中枢性性腺功能减退症而导致青春期前的男性中，血清 AMH 水平较低。相反，当性腺功能减退仅影响 Leydig 细胞（即 LH/人绒毛膜促性腺激素受体或类固醇生成酶缺陷）时，血清 AMH 正常/升高。雄激素不敏感症患者的 AMH 也正常/升高。在青春期前因中枢性性腺功能减退症就诊的患者中，AMH 水平低（反映缺乏 FSH 刺激），但按年龄计算高（反映缺乏睾酮抑制作用）。FSH 治疗可导致血清 AMH 升高，而人绒毛膜促性腺激素治疗可增加抑制 AMH 产生的睾酮水平。总之，AMH 测定有助于评估性腺功能，无需刺激试验，并指导儿童男性性腺功能减退症的病因诊断。此外，血清 AMH 是睾丸中 FSH 和雄激素作用的极佳标志物。
