{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,6,9]],"date-time":"2026-06-09T00:29:11Z","timestamp":1780964951330,"version":"3.54.1"},"reference-count":10,"publisher":"Walter de Gruyter GmbH","issue":"9","content-domain":{"domain":[],"crossmark-restriction":false},"short-container-title":[],"published-print":{"date-parts":[[2023,9,26]]},"abstract":"<jats:title>Abstract<\/jats:title>\n               <jats:sec id=\"j_jpem-2023-0245_abs_001\">\n                  <jats:title>Objectives<\/jats:title>\n                  <jats:p>To highlight important clinical aspects of Persistent M\u00fcllerian duct syndrome (PMDS). PMDS belongs to the group of differences of sex development. It is attributed to mutations in genes encoding for the anti-M\u00fcllerian hormone or its type II receptor (AMHR2) and inherited via an autosomal recessive transmission.<\/jats:p>\n               <\/jats:sec>\n               <jats:sec id=\"j_jpem-2023-0245_abs_002\">\n                  <jats:title>Case presentation<\/jats:title>\n                  <jats:p>An 18-day-old male infant with known bilateral cryptorchidism, presented with left-sided obstructed inguinal hernia. The diagnosis of PMDS was considered during inguinal exploration as both testes together with uterus and fallopian tubes were recognized in the hernial sac. Histology confirmed the presence of M\u00fcllerian-derived tissues. Genetic testing revealed two different mutations of the AMHR2 gene, both with autosomal recessive transmission: a frequently encountered deletion of 27 pairs bases on exon 10 of this 11 exon gene and a novel deletion of 2 pairs bases on exon 6.<\/jats:p>\n               <\/jats:sec>\n               <jats:sec id=\"j_jpem-2023-0245_abs_003\">\n                  <jats:title>Conclusions<\/jats:title>\n                  <jats:p>This case is notable being the rarest type of PMDS, that of transverse testicular ectopia and associated with a novel AMHR2 gene mutation.<\/jats:p>\n               <\/jats:sec>","DOI":"10.1515\/jpem-2023-0245","type":"journal-article","created":{"date-parts":[[2023,7,22]],"date-time":"2023-07-22T17:40:30Z","timestamp":1690047630000},"page":"890-894","source":"Crossref","is-referenced-by-count":2,"title":["A novel mutation in the AMHR2 gene, resulting in persistent M\u00fcllerian duct syndrome presenting with bilateral cryptorchidism and obstructed inguinal hernia"],"prefix":"10.1515","volume":"36","author":[{"given":"Anatoli","family":"Fotiadou","sequence":"first","affiliation":[{"name":"Department of Endocrinology, Growth and Development , \u201cP. & A. Kyriakou\u201d Children\u2019s Hospital , Athens , Greece"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Orthodoxos","family":"Achilleos","sequence":"additional","affiliation":[{"name":"2nd Department of Pediatric Surgery , \u201cP. & A. Kyriakou\u201d Children\u2019s Hospital , Athens , Greece"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Jean-Yves","family":"Picard","sequence":"additional","affiliation":[{"name":"Sorbonne University, CRSA - Inserm UMRS 938 , Paris , France"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Zoe","family":"Lamprinou","sequence":"additional","affiliation":[{"name":"2nd Department of Pediatric Surgery , \u201cP. & A. Kyriakou\u201d Children\u2019s Hospital , Athens , Greece"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Alexandros","family":"Passalides","sequence":"additional","affiliation":[{"name":"2nd Department of Pediatric Surgery , \u201cP. & A. Kyriakou\u201d Children\u2019s Hospital , Athens , Greece"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0000-0001-5641-7081","authenticated-orcid":false,"given":"Elpis-Athina","family":"Vlachopapadopoulou","sequence":"additional","affiliation":[{"name":"Department of Endocrinology, Growth and Development , \u201cP. & A. Kyriakou\u201d Children\u2019s Hospital , Athens , Greece"}],"role":[{"vocabulary":"crossref","role":"author"}]}],"member":"374","published-online":{"date-parts":[[2023,7,24]]},"reference":[{"key":"2023090517184946164_j_jpem-2023-0245_ref_001","doi-asserted-by":"crossref","unstructured":"Cools, M, Nordenstr\u00f6m, A, Robeva, R, Hall, J, Westerveld, P, Fl\u00fcck, C, et al.. Caring for individuals with a difference of sex development (DSD): a consensus statement. Nat Rev Endocrinol 2018;14:415\u201329. https:\/\/doi.org\/10.1038\/s41574-018-0010-8.","DOI":"10.1038\/s41574-018-0010-8"},{"key":"2023090517184946164_j_jpem-2023-0245_ref_002","doi-asserted-by":"crossref","unstructured":"Le\u00f3n, NY, Reyes, AP, Harley, VR. A clinical algorithm to diagnose differences of sex development published correction appears in Lancet Diabetes Endocrinol. Lancet Diabetes Endocrinol 2019;7:560\u201374. https:\/\/doi.org\/10.1016\/S2213-8587(18)30339-5.","DOI":"10.1016\/S2213-8587(18)30339-5"},{"key":"2023090517184946164_j_jpem-2023-0245_ref_003","doi-asserted-by":"crossref","unstructured":"Wherrett, DK. Approach to the infant with a suspected disorder of sex development. Pediatr Clin North Am 2015;62:983\u201399. https:\/\/doi.org\/10.1016\/j.pcl.2015.04.011.","DOI":"10.1016\/j.pcl.2015.04.011"},{"key":"2023090517184946164_j_jpem-2023-0245_ref_004","doi-asserted-by":"crossref","unstructured":"Picard, JY, Josso, N. Persistent M\u00fcllerian duct syndrome: an update. Reprod Fertil Dev 2019;31:1240\u20135. https:\/\/doi.org\/10.1071\/RD17501.","DOI":"10.1071\/RD17501"},{"key":"2023090517184946164_j_jpem-2023-0245_ref_005","doi-asserted-by":"crossref","unstructured":"Josso, N, Rey, RA. What does AMH tell us in pediatric disorders of sex development? Front Endocrinol 2020;11:619. https:\/\/doi.org\/10.3389\/fendo.2020.00619.","DOI":"10.3389\/fendo.2020.00619"},{"key":"2023090517184946164_j_jpem-2023-0245_ref_006","doi-asserted-by":"crossref","unstructured":"Picard, JY, Cate, RL, Racine, C, Josso, N. The persistent M\u00fcllerian duct syndrome: an update based upon a personal experience of 157 cases. Sex Dev 2017;11:109\u201325. https:\/\/doi.org\/10.1159\/000475516.","DOI":"10.1159\/000475516"},{"key":"2023090517184946164_j_jpem-2023-0245_ref_007","doi-asserted-by":"crossref","unstructured":"Chua, \u0399, Samnakay, \u039d. Persistent M\u00fcllerian duct syndrome: understanding the challenges. Urol Case Rep 2022;2022:1\u20136. https:\/\/doi.org\/10.1155\/2022\/2643833.","DOI":"10.1155\/2022\/2643833"},{"key":"2023090517184946164_j_jpem-2023-0245_ref_008","unstructured":"Elias-Assad, G, Elias, M, Kanety, H, Pressman, A, Tenenbaum-Rakover, Y. Persistent M\u00fcllerian duct syndrome caused by a novel mutation of an anti-M\u00fcIlerian hormone receptor gene: case presentation and literature review. Pediatr Endocrinol Rev 2016;13:731\u201340."},{"key":"2023090517184946164_j_jpem-2023-0245_ref_009","doi-asserted-by":"crossref","unstructured":"Farikullah, J, Ehtisham, S, Nappo, S, Patel, L, Hennayake, S. Persistent M\u00fcllerian duct syndrome: lessons learned from managing a series of eight patients over a 10-year period and review of literature regarding malignant risk from the M\u00fcllerian remnants. BJU Int 2012;110:E1084\u20139. https:\/\/doi.org\/10.1111\/j.1464-410X.2012.11184.","DOI":"10.1111\/j.1464-410X.2012.11184.x"},{"key":"2023090517184946164_j_jpem-2023-0245_ref_010","doi-asserted-by":"crossref","unstructured":"Manassero, F, Cuttano, MG, Morelli, G, Salinitri, G, Spurio, M, Selli, C. Mixed germ cell tumor after bilateral orchidopexy in persistent M\u00fcllerian duct syndrome with transverse testicular ectopia. Urol Int 2004;73:81\u20133. https:\/\/doi.org\/10.1159\/000078809.","DOI":"10.1159\/000078809"}],"container-title":["Journal of Pediatric Endocrinology and Metabolism"],"original-title":[],"language":"en","link":[{"URL":"https:\/\/www.degruyter.com\/document\/doi\/10.1515\/jpem-2023-0245\/xml","content-type":"application\/xml","content-version":"vor","intended-application":"text-mining"},{"URL":"https:\/\/www.degruyter.com\/document\/doi\/10.1515\/jpem-2023-0245\/pdf","content-type":"unspecified","content-version":"vor","intended-application":"similarity-checking"}],"deposited":{"date-parts":[[2023,9,5]],"date-time":"2023-09-05T17:20:57Z","timestamp":1693934457000},"score":1,"resource":{"primary":{"URL":"https:\/\/www.degruyter.com\/document\/doi\/10.1515\/jpem-2023-0245\/html"}},"subtitle":[],"short-title":[],"issued":{"date-parts":[[2023,7,24]]},"references-count":10,"journal-issue":{"issue":"9","published-online":{"date-parts":[[2023,8,11]]},"published-print":{"date-parts":[[2023,9,26]]}},"alternative-id":["10.1515\/jpem-2023-0245"],"URL":"https:\/\/doi.org\/10.1515\/jpem-2023-0245","relation":{},"ISSN":["0334-018X","2191-0251"],"issn-type":[{"value":"0334-018X","type":"print"},{"value":"2191-0251","type":"electronic"}],"subject":[],"published":{"date-parts":[[2023,7,24]]}}}