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. 2022 Jan 18;107(2):309-323.
doi: 10.1210/clinem/dgab687.

Clinical Utility of Anti-Mullerian Hormone in Pediatrics

Affiliations

Clinical Utility of Anti-Mullerian Hormone in Pediatrics

Roopa Kanakatti Shankar et al. J Clin Endocrinol Metab. .

Abstract

Context: 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.

Design and results: 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.

Conclusions: 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.

Keywords: AMH; DSD; MIS; fertility; pediatrics.

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Figures

Figure 1.
Figure 1.
Regulation of anti-Mullerian hormone (AMH) secretion and signaling. (A) Regulation of AMH secretion in males by developmental stage. (B) Regulation of AMH secretion in females and its role in ovarian follicle maturation. Abbreviation: AR, Androgen receptor.
Figure 1.
Figure 1.
Regulation of anti-Mullerian hormone (AMH) secretion and signaling. (A) Regulation of AMH secretion in males by developmental stage. (B) Regulation of AMH secretion in females and its role in ovarian follicle maturation. Abbreviation: AR, Androgen receptor.
Figure 2.
Figure 2.
Reference ranges for serum anti-Mullerian hormone (AMH). Serum AMH in 1027 males (blue circles) and 926 females (red circles) is depicted with blue and red lines depicting (median, +/−2 SD) reference ranges for males and females, respectively. Connecting grey lines represent longitudinal values in infancy. Age in years on the x-axis and serum AMH (pmol/L) measured on Immunotech (IOT) on the logarithmic y-axis. Comparative data for Diagnostic Systems Laboratory (DSL) and Gen II assays were calculated as follows: AMH (IOT) pmol/L = 2.0 × AMH (DSL) μg/L × 7.14 pmol/μg and AMH (IOT) pmol/L = 0.74 × AMH (Gen II) μg/L × 7.14 pmol/μg. This figure is reproduced from Johansen ML, et al (49). Copyright © 2013 Marie Lindhardt Johansen et al. This is an open access article distributed under the Creative Commons Attribution License http://creativecommons.org/licenses/by/3.0/ which permits unrestricted use, distribution, and reproduction in any medium, provided the original work is properly cited.

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