Division of Endocrinology, Children's National Hospital, Washington DC, USA.
Department of Pediatrics, The George Washington University School of Medicine and Health Sciences, Washington, DC, USA.
J Clin Endocrinol Metab. 2022 Jan 18;107(2):309-323. doi: 10.1210/clinem/dgab687.
Anti-Mullerian hormone (AMH) was originally described in the context of sexual differentiation in the male fetus but has gained prominence now as a marker of ovarian reserve and fertility in females. In this mini-review, we offer an updated synopsis on AMH and its clinical utility in pediatric patients.
A systematic search was undertaken for studies related to the physiology of AMH, normative data, and clinical role in pediatrics. In males, AMH, secreted by Sertoli cells, is found at high levels prenatally and throughout childhood and declines with progression through puberty to overlap with levels in females. Thus, serum AMH has clinical utility as a marker of testicular tissue in males with differences in sexual development and cryptorchidism and in the evaluation of persistent Mullerian duct syndrome. In females, serum AMH has been used as a predictive marker of ovarian reserve and fertility, but prepubertal and adolescent AMH assessments need to be interpreted cautiously. AMH is also a marker of tumor burden, progression, and recurrence in germ cell tumors of the ovary.
AMH has widespread clinical diagnostic utility in pediatrics but interpretation is often challenging and should be undertaken in the context of not only age and sex but also developmental and pubertal stage of the child. Nonstandardized assays necessitate the need for assay-specific normative data. The recognition of the role of AMH beyond gonadal development and maturation may usher in novel diagnostic and therapeutic applications that would further expand its utility in pediatric care.
抗苗勒管激素（AMH）最初在男性胎儿的性分化背景下被描述，但现在作为女性卵巢储备和生育能力的标志物而备受关注。在这个小型综述中，我们提供了 AMH 的最新概述及其在儿科患者中的临床应用。
系统检索了与 AMH 生理学、正常参考值和儿科临床作用相关的研究。在男性中，由支持细胞分泌的 AMH 在胎儿期和整个儿童期都处于高水平，并随着青春期的进展而下降，与女性的水平相重叠。因此，血清 AMH 作为男性性发育和隐睾差异以及持续性苗勒管综合征评估中睾丸组织的标志物具有临床应用价值。在女性中，血清 AMH 一直被用作卵巢储备和生育能力的预测标志物，但青春期前和青少年期 AMH 的评估需要谨慎解读。AMH 也是卵巢生殖细胞肿瘤的肿瘤负荷、进展和复发的标志物。
AMH 在儿科中有广泛的临床诊断应用价值，但解释往往具有挑战性，不仅需要考虑年龄和性别，还需要考虑儿童的发育和青春期阶段。非标准化检测需要特定检测方法的正常参考值。AMH 除了在性腺发育和成熟方面的作用之外，可能会出现新的诊断和治疗应用，从而进一步扩大其在儿科护理中的应用。
