Abstract
Persistent müllerian duct syndrome (PMDS) is characterized by the presence of müllerian duct derivatives in otherwise phenotypically normal males. Homozygous or compound heterozygous alterations in AMH or AMHR2 have been identified in approximately 88% of PMDS cases. We report on a male patient with bilateral undescended gonads, müllerian derivatives, and normal serum AMH levels. A novel homozygous missense mutation, c.119G>C;p.Gly40Ala, in exon 2 of AMHR2 was detected that supported the clinical diagnosis of PMDS.
References
1.
Baxter RM, Arboleda VA, Lee H, Barseghyan H, Adam MP, et al: Exome sequencing for the diagnosis of 46,XY disorders of sex development. J Clin Endocrinol Metab 100:E333-E344 (2015).
2.
Belville C, Maréchal JD, Pennetier S, Carmillo P, Masgrau L, et al: Natural mutations of the anti-Müllerian hormone type II receptor found in persistent Müllerian duct syndrome affect ligand binding, signal transduction and cellular transport. Hum Mol Genet 18:3002-3013 (2009).
3.
Çakır AD, Turan H, Onay H, Emir H, Emre S, et al: A novel mutation of AMHR2 in two Siblings with persistent Müllerian duct syndrome. Sex Dev 11:289-292 (2017).
4.
Eggers S, Sadedin S, van den Bergen JA, Robevska G, Ohnesorg T, et al: Disorders of sex development: insights from targeted gene sequencing of a large international patient cohort. Genome Biol 17:243 (2016).
5.
Imbeaud S, Faure E, Lamarre I, Mattéi MG, di Clemente N, et al: Insensitivity to anti-müllerian hormone due to a mutation in the human anti-müllerian hormone receptor. Nat Genet 11:382-388 (1995).
6.
Imbeaud S, Belville C, Messika-Zeitoun L, Rey R, di Clemente N, et al: A 27 base-pair deletion of the anti-müllerian type II receptor gene is the most common cause of the persistent müllerian duct syndrome. Hum Mol Genet 5:1269-1277 (1996).
7.
Josso N, Belville C, di Clemente N, Picard JY: AMH and AMH receptor defects in persistent Müllerian duct syndrome. Hum Reprod Update 11:351-356 (2005).
8.
Manjunath BG, Shenoy VG, Raj P: Persistent müllerian duct syndrome: how to deal with the müllerian duct remnants - a review. Indian J Surg 72:16-19 (2010).
9.
Orós-Millán ME, Muñoz-Calvo MT, Nishi MY, Bilharinho Mendonca B, Argente J: Persistent Müllerian duct syndrome due to a mutation in the anti-Müllerian hormone receptor gene (AMHR2). An Pediatr (Barc) 86:94-95 (2017).
10.
Picard JY, Cate RL, Racine C, Josso N: The persistent Müllerian duct syndrome: an update based upon a personal experience of 157 cases. Sex Dev 11:109-125 (2017).
11.
Qin C, Yuan Z, Yao J, Zhu W, Wu W, Xie J: AMH and AMHR2 genetic variants in Chinese women with primary ovarian insufficiency and normal age at natural menopause. Reprod Biomed Online 29:311-318 (2014).
12.
Ren X, Wu D, Gong C: Persistent Müllerian duct syndrome: a case report and review. Exp Ther Med 14:5779-5784 (2017).
13.
Rey R: Endocrine, paracrine and cellular regulation of postnatal anti-müllerian hormone secretion by Sertoli cells. Trends Endocrinol Metab 9:271-276 (1998).
14.
Richards S, Aziz N, Bale S, Bick D, Das S, et al: ACMG Laboratory Quality Assurance Committee. Standards and guidelines for the interpretation of sequence variants: a joint consensus recommendation of the American College of Medical Genetics and Genomics and the Association for Molecular Pathology. Genet Med 17:405-424 (2015).
15.
Unal E, Yıldırım R, Tekin S, Demir V, Onay H, Haspolat YK: A novel mutation of AMHR2 in two siblings with persistent Müllerian duct syndrome. J Clin Res Pediatr Endocrinol (2018) [Epub ahead of print].
© 2019 S. Karger AG, Basel
2019
Copyright / Drug Dosage / Disclaimer
Copyright: All rights reserved. No part of this publication may be translated into other languages, reproduced or utilized in any form or by any means, electronic or mechanical, including photocopying, recording, microcopying, or by any information storage and retrieval system, without permission in writing from the publisher.
Drug Dosage: The authors and the publisher have exerted every effort to ensure that drug selection and dosage set forth in this text are in accord with current recommendations and practice at the time of publication. However, in view of ongoing research, changes in government regulations, and the constant flow of information relating to drug therapy and drug reactions, the reader is urged to check the package insert for each drug for any changes in indications and dosage and for added warnings and precautions. This is particularly important when the recommended agent is a new and/or infrequently employed drug.
Disclaimer: The statements, opinions and data contained in this publication are solely those of the individual authors and contributors and not of the publishers and the editor(s). The appearance of advertisements or/and product references in the publication is not a warranty, endorsement, or approval of the products or services advertised or of their effectiveness, quality or safety. The publisher and the editor(s) disclaim responsibility for any injury to persons or property resulting from any ideas, methods, instructions or products referred to in the content or advertisements.
You do not currently have access to this content.