Anti-Müllerian hormone, testicular descent and cryptorchidism

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...

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Main Authors: Rodolfo A. Rey, Romina P. Grinspon
Format: Article
Language:English
Published: Frontiers Media S.A. 2024-03-01
Series:Frontiers in Endocrinology
Subjects:
Online Access:https://www.frontiersin.org/articles/10.3389/fendo.2024.1361032/full
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author Rodolfo A. Rey
Rodolfo A. Rey
Rodolfo A. Rey
Romina P. Grinspon
author_facet Rodolfo A. Rey
Rodolfo A. Rey
Rodolfo A. Rey
Romina P. Grinspon
author_sort Rodolfo A. Rey
collection DOAJ
description 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.
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spelling doaj.art-a659135c2c3c47b6876c439a1fdb2f982024-03-04T04:48:55ZengFrontiers Media S.A.Frontiers in Endocrinology1664-23922024-03-011510.3389/fendo.2024.13610321361032Anti-Müllerian hormone, testicular descent and cryptorchidismRodolfo A. Rey0Rodolfo A. Rey1Rodolfo A. Rey2Romina P. Grinspon3Centro de Investigaciones Endocrinológicas “Dr. César Bergadá” (CEDIE), CONICET – FEI – División de Endocrinología, Hospital de Niños Ricardo Gutiérrez, Buenos Aires, ArgentinaUniversidad de Buenos Aires, Facultad de Medicina, Departamento de Biología Celular, Histología, Embriología y Genética, Buenos Aires, ArgentinaInstituto de Investigaciones Biomédicas, Santa Fe, ArgentinaCentro de Investigaciones Endocrinológicas “Dr. César Bergadá” (CEDIE), CONICET – FEI – División de Endocrinología, Hospital de Niños Ricardo Gutiérrez, Buenos Aires, ArgentinaAnti-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.https://www.frontiersin.org/articles/10.3389/fendo.2024.1361032/fullandrogenscryptorchidismAMHanti-Müllerian hormonetestistesticular descent
spellingShingle Rodolfo A. Rey
Rodolfo A. Rey
Rodolfo A. Rey
Romina P. Grinspon
Anti-Müllerian hormone, testicular descent and cryptorchidism
Frontiers in Endocrinology
androgens
cryptorchidism
AMH
anti-Müllerian hormone
testis
testicular descent
title Anti-Müllerian hormone, testicular descent and cryptorchidism
title_full Anti-Müllerian hormone, testicular descent and cryptorchidism
title_fullStr Anti-Müllerian hormone, testicular descent and cryptorchidism
title_full_unstemmed Anti-Müllerian hormone, testicular descent and cryptorchidism
title_short Anti-Müllerian hormone, testicular descent and cryptorchidism
title_sort anti mullerian hormone testicular descent and cryptorchidism
topic androgens
cryptorchidism
AMH
anti-Müllerian hormone
testis
testicular descent
url https://www.frontiersin.org/articles/10.3389/fendo.2024.1361032/full
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AT rodolfoarey antimullerianhormonetesticulardescentandcryptorchidism
AT rominapgrinspon antimullerianhormonetesticulardescentandcryptorchidism