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      Cancer on cryptorchid testis revealing a Persistent Müllerian Duct Syndrome: A rare case

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          Abstract

          The persistence of Müllerian derivatives syndrome or PDMS is a rare form of male pseudohermaphrodism. Its association to ectopic testicular cancer is even rarer. Because of its rarity it is difficult to diagnose preoperatively. We present a case of a cancer on cryptorchid testis revealing a persistent Müllerian duct syndrome.

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          AMH and AMH receptor defects in persistent Müllerian duct syndrome.

          Nathalie Josso, Corinne Belville, Nathalie di Clemente … (2015)
          Anti-Müllerian hormone (AMH) produced by fetal Sertoli cells is responsible for regression of Müllerian ducts, the anlage for uterus and Fallopian tubes, during male sex differentiation. A member of the transforming growth factor-beta superfamily, AMH signals through two transmembrane receptors, type II which is specific and type I receptors, shared with the bone morphogenetic protein family. Mutations of the AMH and AMH receptor type II (AMHR-II) genes lead to persistence of the uterus and Fallopian tubes in males. Both conditions are transmitted according to a recessive autosomal pattern and are symptomatic only in males. Affected individuals are otherwise normally virilized, undergo normal male puberty; and may be fertile if testes, tightly attached to the Fallopian tubes, can be replaced in the scrotum. Approximately 85% of the cases are due, in similar proportions, to mutations of the AMH or AMHR-II gene. The genetic background does not influence the phenotype, the only difference is the level of circulating AMH which is normal for age in AMHR-II mutants and usually low or undetectable in AMH gene defects. This is due to lack of secretion, explained by the localization of the mutations in critical regions, based on the assumed 3D structure of the molecule. Similarly, lack of translocation to the surface membrane is responsible for the inactivity of AMHR-II molecules bearing mutations in the extracellular domain. In 15% of cases, the cause of the persistent Mullerian duct syndrome is unknown and could be related to complex malformations of the urogenital region, unrelated to AMH physiology.
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            The Persistent Müllerian Duct Syndrome: An Update Based Upon a Personal Experience of 157 Cases.

            Jean-Yves Picard, Richard Cate, Chrystèle Racine … (2017)
            Male sex differentiation is driven by 2 hormones, testosterone and anti-müllerian hormone (AMH), responsible for the regression of müllerian ducts in male fetuses. Mutations inactivating AMH or its receptor AMHRII lead to the persistent müllerian duct syndrome (PMDS) in otherwise normally virilized 46,XY males. Our objective was to review the clinical, anatomical, and molecular features of PMDS based upon a review of the literature and upon 157 personal cases. Three clinical presentations exist: bilateral cryptorchidism, unilateral cryptorchidism with contralateral hernia, and transverse testicular ectopia. Abnormalities of male excretory ducts are frequent. Testicular malignant degeneration occurs in 33% of adults with the disorder, while cancer of müllerian derivatives is less frequent. Fertility is rare but possible if at least one testis is scrotal and its excretory ducts are intact. Eighty families with 64 different mutations of the AMH gene have been identified, mostly in exons 1, 2, and 5. AMHRII gene mutations representing 58 different alleles have been discovered in 75 families. The most common mutation, a 27-bp deletion in the kinase domain, was found in 30 patients of mostly Northern European origin. In 12% of cases, no mutation of AMH or AMHRII has been detected, suggesting a disruption of other pathways involved in müllerian regression.
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              Genital anomalies in human and animal models reveal the mechanisms and hormones governing testicular descent.

              T D Clarnette, Y Sugita, J M Hutson (1997)
              A systematic examination of the conditions characterized by the presence of genital anomalies in humans, noting in each condition the position of the gonad, the nature of the gubernaculum and cranial suspensory ligament can provide valuable information regarding the mechanisms controlling the final position of the gonads. In conditions where MIS is absent, the gubernaculum is "feminized', resulting in a testis in the position normally occupied by an ovary or an abnormally mobile testis that can prolapse to the inguinal region. In conditions of androgen insensitivity the testis is located in the inguinal region, indicating that the first phase of descent is normal but that inguinoscrotal descent has failed to occur. Ovarian descent fails to occur in congenital adrenal hyperplasia, despite exposure of the developing fetus to high levels of androgens, indicating that androgen alone does not control gonadal descent. Moreover, ovarian descent fails to occur despite androgen-dependent regression of the cranial suspensory ligament. The correlation between the degree of Müllerian duct retention and scrotal position in mixed gonadal dysgenesis further strengthens the hypothesis that the first stage of testicular descent is controlled by MIS. The study of genital anomalies suggests that MIS controls the swelling reaction in the male gubernaculum, which is responsible for the first phase of testicular descent to the inguinal region. The second or inguinoscrotal phase of descent is androgen-dependent. Regression of the cranial suspensory ligament is also androgen-dependent: however, it is the gubernaculum and not the presence or absence of the cranial suspensory ligament which controls testicular descent. A combined knowledge of the hormonal basis controlling sexual differentiation and the biphasic model of testicular descent enables the clinician to accurately predict the internal anatomy of these complex sexual anomalies.
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                Author and article information

                Contributors
                Ahmed Samet
                Journal
                Journal ID (nlm-ta): Urol Case Rep
                Journal ID (iso-abbrev): Urol Case Rep
                Title: Urology Case Reports
                Publisher: Elsevier
                ISSN (Electronic): 2214-4420
                Publication date PMC-release: 26 July 2019
                Publication date Collection: September 2019
                Publication date (Electronic): 26 July 2019
                Volume: 26
                Electronic Location Identifier: 100977
                Affiliations
                [1]Urology Department, Academic Hospital Habib Bourguiba, Sfax, Tunisia
                Author notes
                [∗ ]Corresponding author. ahmed.samet40@ 123456gmail.com
                Article
                Publisher ID: S2214-4420(19)30272-4 Publisher ID: 100977
                DOI: 10.1016/j.eucr.2019.100977
                PMC ID: 6667666
                PubMed ID: 31384563
                SO-VID: 99eb6860-66f8-4643-81a5-535302c970ab
                Copyright © © 2019 Published by Elsevier Inc.
                License:

                This is an open access article under the CC BY-NC-ND license (http://creativecommons.org/licenses/by-nc-nd/4.0/).

                History
                Date received : 16 July 2019
                Date accepted : 24 July 2019
                Categories
                Subject: Oncology

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