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TGF-β signaling in testicular development, spermatogenesis, and infertility
Published in Rajender Singh, Molecular Signaling in Spermatogenesis and Male Infertility, 2019
Poonam Mehta, Meghali Joshi, Rajender Singh
MIS regresses the Müllerian duct in males. In the absence of MIS, the Müllerian duct will develop into a fallopian tube, uterus or superior portions of the vagina (101). Persistent Müllerian duct syndrome (PMDS) is associated with the levels of circulating MIS before puberty. In total, there are 38 mutations known to date, mostly missense, which are associated with PMDS. As described in Section 11.4.4, there is a specific type II receptor for the MIS ligand; accordingly, in PMDS patients with normal levels of MIS, mutations in its specific receptor AMHRII have been found. Still, there are PMDS patients who do not carry any ligand or receptor mutations, and the etiology remains unknown (102,103).
Variation of sex differentiation
Published in Joseph S. Sanfilippo, Eduardo Lara-Torre, Veronica Gomez-Lobo, Sanfilippo's Textbook of Pediatric and Adolescent GynecologySecond Edition, 2019
Anne-Marie Amies Oelschlager, Margarett Shnorhavorian
AMH receptor defect: Persistent Müllerian duct syndrome is associated with an AMH receptor defect. Usually this is not associated with ambiguous external genitalia but is discovered when Müllerian structures are identified in evaluation for a hernia or undescended testis. This condition is autosomal recessive due to a mutation in the AMH gene, location 19p13.3, or the receptor gene, AMHR2, location 12q13.13.
Disorders of sexual differentiation
Published in Brice Antao, S Irish Michael, Anthony Lander, S Rothenberg MD Steven, Succeeding in Paediatric Surgery Examinations, 2017
Sarah M Lambert, Howard M Snyder III
A child with a 46,XY karyotype and male genitalia with a uterine remnant has persistent müllerian duct syndrome due to an abnormality in müllerian inhibiting substance. The SRY locus is located on the short arm of the Y chromosome and is necessary for male genital development. A boy with mesangial sclerosis and ambiguous genitalia likely has Denys–Drash’s syndrome that results from a mutation in the WT1 tumour suppressor gene on chromosome 11p13. Children with Denys–Drash’s syndrome are at increased risk for development of Wilms’s tumour and should be followed with serial abdominal ultrasounds.
Identification of two AMH gene variants in two unrelated patients with persistent Müllerian duct syndrome: one novel variant
Published in Gynecological Endocrinology, 2021
Sezer Acar, Özlem Nalbantoğlu, Semra Gürsoy, Beyhan Özkaya, Özge Köprülü, Gülçin Arslan, Filiz Hazan, Behzat Özkan
Persistent müllerian duct syndrome (PMDS) is a rare form of inherited autosomal recessive disease of 46, XY disorder of sex development characterized by the persistence of the müllerian structures (uterus, fallopian tubes, upper part of the vagina) in phenotypically and genotypically normal males [1]. This disease occurs as a result of a biallelic mutation either in anti-Müllerian hormone (AMH) or AMH receptor type II (AMHRII) genes, which play a role in regression of müllerian structures in intrauterine period [1]. AMH, which is a member of the transforming growt factor-β (TGF-β) family, is produced from the Sertoli cell after the 8th week of the embryonic period. AMH is translated as a dimeric precursor comprising a large N-terminal pro-region and a smaller C-terminal mature domain, which is crucial for bioactivity. Full length homodimeric AMH is cleaved at arginine 450 into a long N-terminal and a short C-terminal fragment, which is required to bind to this receptor and subsequent biological activity (3). AMH acts by binding to the AMHRII, a transmembrane serine/threonine kinase, which in turn phosphorylates AMHRI. The active heterotetramer complex phosphorylates intracytoplasmic proteins and allow them to enter the nucleus to interact with target genes and provides regression of müllerian structures [1–3]. In defects of AMH or its receptor, AMHRII, the müllerian structures differ into uterus, fallopian tubes, and upper part of vagina. Finally, both functional testicular tissue and müllerian derivatives (fallopian tubes, uterus, and upper part of vagina) emerges in externally normal male with 46, XY karyotype, suggesting PMDS.
Molecular diagnostics of disorders of sexual development: an Indian survey and systems biology perspective
Published in Systems Biology in Reproductive Medicine, 2019
MR Nagaraja, Satya Prakash Gubbala, C. R. Wilma Delphine Silvia, Ramars Amanchy
AMH mutations are known to cause persistent mullerian duct syndrome type I and are diagnosed by quantifying serum MIS/AMH levels (Rey et al. 1999). AMH has been associated with AMHR2 (encodes for AMH receptor type 2), and mutations in the latter also show the obvious phenotype. ACVR1 [encodes for activin A receptor type 1, mutation causes fibrodysplasia ossificans progressiva (OMIM 135100)] is another AMH-associated gene.
Unsatisfactory testicular position after inguinal orchidopexy: Is there a role for upfront laparoscopy?
Published in Arab Journal of Urology, 2020
Ahmed Abdelhaseeb Youssef, Mahmoud Marei Marei, Mohamed Hamed Abouelfadl, Wesam Mohamed Mahmoud, Atef Salaheldin Abdulaziz Elbarawy, Tamer Yassin Mohamed Yassin
Division of the spermatic vessels was not required to achieve a dependent testicular location in any of the patients included. One patient with a recurrent UDT had a remnant Müllerian structure due to persistent Müllerian duct syndrome noted upon laparoscopy, anchoring the testis, and was managed by the same technique after laparoscopic longitudinal incision (division) of the Müllerian structure.