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Review
. 2024 Mar 4:15:1361032.
doi: 10.3389/fendo.2024.1361032. eCollection 2024.

Anti-Müllerian hormone, testicular descent and cryptorchidism

Rodolfo A Rey  1   2   3 , Romina P Grinspon  1
Affiliations
Review

Anti-Müllerian hormone, testicular descent and cryptorchidism

Rodolfo A Rey et al. Front Endocrinol (Lausanne). .

Abstract

Anti-Müllerian hormone (AMH) is a Sertoli cell-secreted glycoprotein involved in male fetal sex differentiation: it provokes the regression of Müllerian ducts, which otherwise give rise to the Fallopian tubes, the uterus and the upper part of the vagina. In the first trimester of fetal life, AMH is expressed independently of gonadotropins, whereas from the second trimester onwards AMH testicular production is stimulated by FSH and oestrogens; at puberty, AMH expression is inhibited by androgens. AMH has also been suggested to participate in testicular descent during fetal life, but its role remains unclear. Serum AMH is a well-recognized biomarker of testicular function from birth to the first stages of puberty. Especially in boys with nonpalpable gonads, serum AMH is the most useful marker of the existence of testicular tissue. In boys with cryptorchidism, serum AMH levels reflect the mass of functional Sertoli cells: they are lower in patients with bilateral than in those with unilateral cryptorchidism. Interestingly, serum AMH increases after testis relocation to the scrotum, suggesting that the ectopic position result in testicular dysfunction, which may be at least partially reversible. In boys with cryptorchidism associated with micropenis, low AMH and FSH are indicative of central hypogonadism, and serum AMH is a good marker of effective FSH treatment. In patients with cryptorchidism in the context of disorders of sex development, low serum AMH is suggestive of gonadal dysgenesis, whereas normal or high AMH is found in patients with isolated androgen synthesis defects or with androgen insensitivity. In syndromic disorders, assessment of serum AMH has shown that Sertoli cell function is preserved in boys with Klinefelter syndrome until mid-puberty, while it is affected in patients with Noonan, Prader-Willi or Down syndromes.

Keywords: AMH; androgens; anti-Müllerian hormone; cryptorchidism; testicular descent; testis.

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Conflict of interest statement

Until 2020, RR received royalties for the development of an AMH ELISA kit and both authors received honoraria for technology services using the AMH ELISA. The author(s) declared that they were an editorial board member of Frontiers, at the time of submission. This had no impact on the peer review process and the final decision.

Figures

Figure 1
Figure 1
(A) AMH involvement in male fetal sex differentiation. (B) Regulation of testicular AMH production by FSH. (C) Serum AMH levels in boys with nonpalpable gonads; the shaded area represents normal levels. (D) PMDS: persistent Müllerian duct syndrome. α, β and γ, subunits of the Gs protein involved in FSH receptor signalling; AC, adenylyl cyclase; AP2, GATA4, IκB, NFκB, SF1 and SOX9, transcription factors involved in AMH expression regulation; AR, androgen receptor; cAMP, cyclic adenosine monophosphate; P, phosphorylated proteins; PKA, protein kinase A; prolif, proliferation. Modified with permission from: Rey and Grinspon (2) © 2010 Elsevier Ltd. (part A), Lasala et al. (3) © 2011 American Physiological Society (part B), and Josso et al. (4) © 2013 Hindawi Publishing Corporation (part C). Data in part C were obtained from Grinspon et al. (5) and Grinspon et al. (6).
Figure 2
Figure 2
Hormones involved in male sex differentiation, including testicular descent during fetal life.
Figure 3
Figure 3
Predictive values of serum AMH and testosterone (T) post-hCG in boys with nonpalpable gonads for the existence of functional testicular tissue. Data from: Lee et al. (96). N.D., non-detectable.
Figure 4
Figure 4
Levels of serum AMH, expressed in standard deviation scores (SDS), in boys with unilateral or bilateral cryptorchidism (A), and in boys with unilateral or bilateral cryptorchidism born pre-term or full-term (B). Modified with permission, from Grinspon et al. (6).
Figure 5
Figure 5
Levels of serum AMH, expressed in standard deviation scores (SDS), in boys before and after orchiopexy Modified with permission, from Grinspon et al. (6).
Figure 6
Figure 6
Levels of serum AMH in boys with disorders of sex development. The shaded area represents normal levels. AIS, androgen insensitivity syndrome. Modified with permission, from Rey et al. (121). © 1999 The Endocrine Society.
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References

    1. Jost A. Problems of fetal endocrinology: the gonadal and hypophyseal hormones. Recent Prog Hormone Res. (1953) 8:379–418.
    1. Rey RA, Grinspon RP. Normal male sexual differentiation and aetiology of disorders of sex development. Best Pract Res Clin Endocrinol Metab. (2011) 25:221–38. doi: 10.1016/j.beem.2010.08.013 - DOI - PubMed
    1. Lasala C, Schteingart HF, Arouche N, Bedecarrás P, Grinspon RP, Picard JY, et al. . SOX9 and SF1 are involved in cyclic AMP-mediated upregulation of anti-Mullerian gene expression in the testicular prepubertal Sertoli cell line SMAT1. Am J Physiol Endocrinol Metab. (2011) 301:E539–547. doi: 10.1152/ajpendo.00187.2011 - DOI - PubMed
    1. Josso N, Rey RA, Picard JY. Anti-müllerian hormone: a valuable addition to the toolbox of the pediatric endocrinologist. Int J Endocrinol. (2013) 2013:674105. doi: 10.1155/2013/674105 - DOI - PMC - PubMed
    1. Grinspon RP, Ropelato MG, Bedecarrás P, Loreti N, Ballerini MG, Gottlieb S, et al. . Gonadotrophin secretion pattern in anorchid boys from birth to pubertal age: pathophysiological aspects and diagnostic usefulness. Clin Endocrinol (Oxf). (2012) 76:698–705. doi: 10.1111/j.1365-2265.2011.04297.x - DOI - PubMed

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