{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,9,17]],"date-time":"2026-09-17T03:57:31Z","timestamp":1789617451481,"version":"build-2803163510"},"reference-count":39,"publisher":"MDPI AG","issue":"22","license":[{"start":{"date-parts":[[2022,11,19]],"date-time":"2022-11-19T00:00:00Z","timestamp":1668816000000},"content-version":"vor","delay-in-days":0,"URL":"https:\/\/creativecommons.org\/licenses\/by\/4.0\/"}],"content-domain":{"domain":[],"crossmark-restriction":false},"short-container-title":["IJMS"],"abstract":"<jats:p>Turner syndrome (gonadal dysgenesis with short stature and sterility) is characterized by chromosomal karyotype 45,X in 50% of cases or by mosaicism (45,X\/46,XX and 45,X\/46,XY) in 30\u201340% or X structural defects (deletions, long arm isochromosome, ring chromosome). When mosaic Turner syndrome (TS) occurs with a Y chromosome, there may be ambiguous genitalia. Duchenne muscular dystrophy (DMD) is an inherited neuromuscular disease with an X-Linked recessive pattern of inheritance that predominantly affects males, while females are usually asymptomatic. DMD has also been observed in groups of females affected by TS, not homozygous for the mutation. Here, we report a case of an Indian neonate born with ambiguous genitalia diagnosed prenatally by ultrasound who had a karyotype of 45,X\/46,XY and who also had Duchenne muscular dystrophy caused by a de novo mutation in the DMD gene. Physical examination was normal without the typical dysmorphic features of TS with the exception of the genitourinary system showing ambiguous genitalia. Gender was assigned as female. At the age of three years, she had increasing difficulty walking, running, jumping and climbing stairs, proximal upper and lower extremity muscle weakness and a positive Gowers\u2019 sign. In addition, the serum creatine kinase (CK) value was over 30X the upper limit of normal. This study shows that DMD can occur in females with TS having 45,X\/46,XY mosaicism and that this coexistence should be considered in women affected by TS who start to develop potential typical symptoms such as motor or developmental delay.<\/jats:p>","DOI":"10.3390\/ijms232214408","type":"journal-article","created":{"date-parts":[[2022,11,21]],"date-time":"2022-11-21T03:05:11Z","timestamp":1668999911000},"page":"14408","update-policy":"https:\/\/doi.org\/10.3390\/mdpi_crossmark_policy","source":"Crossref","is-referenced-by-count":5,"title":["Turner Syndrome Mosaicism 45,X\/46,XY with Genital Ambiguity and Duchenne Muscular Dystrophy: Translational Approach of a Rare Italian Case"],"prefix":"10.3390","volume":"23","author":[{"ORCID":"https:\/\/orcid.org\/0000-0002-7732-2003","authenticated-orcid":false,"given":"Bruno","family":"Lamanna","sequence":"first","affiliation":[{"name":"Department of Biomedical Sciences and Human Oncology, University of Bari \u201cAldo Moro\u201d, 70121 Bari, Italy"},{"name":"Fetal Medicine Research Institute, King\u2019s College Hospital, London SE5 9RS, UK"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0000-0003-4771-6287","authenticated-orcid":false,"given":"Marina","family":"Vinciguerra","sequence":"additional","affiliation":[{"name":"Department of Biomedical Sciences and Human Oncology, University of Bari \u201cAldo Moro\u201d, 70121 Bari, Italy"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0000-0003-3522-4648","authenticated-orcid":false,"given":"Miriam","family":"Dellino","sequence":"additional","affiliation":[{"name":"Department of Biomedical Sciences and Human Oncology, University of Bari \u201cAldo Moro\u201d, 70121 Bari, Italy"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Gabriele","family":"Cascella","sequence":"additional","affiliation":[{"name":"Department of Biomedical Sciences and Human Oncology, University of Bari \u201cAldo Moro\u201d, 70121 Bari, Italy"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0000-0003-0325-4316","authenticated-orcid":false,"given":"Gerardo","family":"Cazzato","sequence":"additional","affiliation":[{"name":"Department of Emergency and Organ Transplantation, University of Bari \u201cAldo Moro\u201d, 70121 Bari, Italy"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0000-0003-1332-8278","authenticated-orcid":false,"given":"Enrica","family":"Macorano","sequence":"additional","affiliation":[{"name":"Section of Legal Medicine, Interdisciplinary Department of Medicine, University of Bari \u201cAldo Moro\u201d, 70121 Bari, Italy"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Antonio","family":"Malvasi","sequence":"additional","affiliation":[{"name":"Department of Biomedical Sciences and Human Oncology, University of Bari \u201cAldo Moro\u201d, 70121 Bari, Italy"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0000-0003-2717-2489","authenticated-orcid":false,"given":"Salvatore","family":"Scacco","sequence":"additional","affiliation":[{"name":"Department of Translational Biomedicine and Neuroscience (DiBraiN), University of Bari \u201cAldo Moro\u201d, 70121 Bari, Italy"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0000-0003-2390-4582","authenticated-orcid":false,"given":"Ettore","family":"Cicinelli","sequence":"additional","affiliation":[{"name":"Department of Biomedical Sciences and Human Oncology, University of Bari \u201cAldo Moro\u201d, 70121 Bari, Italy"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0000-0002-4006-6421","authenticated-orcid":false,"given":"Vera","family":"Loizzi","sequence":"additional","affiliation":[{"name":"Gynecologic Oncology Unit, IRCCS Istituto Tumori Giovanni Paolo II, Department of Interdisciplinary Medicine (DIM), University of Bari \u201cAldo Moro\u201d, 70121 Bari, Italy"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0000-0002-9862-1619","authenticated-orcid":false,"given":"Antonella","family":"Vimercati","sequence":"additional","affiliation":[{"name":"Department of Biomedical Sciences and Human Oncology, University of Bari \u201cAldo Moro\u201d, 70121 Bari, Italy"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0000-0001-5745-372X","authenticated-orcid":false,"given":"Gennaro","family":"Cormio","sequence":"additional","affiliation":[{"name":"Gynecologic Oncology Unit, IRCCS Istituto Tumori Giovanni Paolo II, Department of Interdisciplinary Medicine (DIM), University of Bari \u201cAldo Moro\u201d, 70121 Bari, Italy"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0000-0003-0916-8101","authenticated-orcid":false,"given":"Francesco","family":"Paduano","sequence":"additional","affiliation":[{"name":"Stem Cells and Medical Genetics Units, Tecnologica Research Institute and Marrelli Health, 88900 Crotone, Italy"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0000-0003-1287-4285","authenticated-orcid":false,"given":"Eliano","family":"Cascardi","sequence":"additional","affiliation":[{"name":"Department of Medical Sciences, University of Turin, 10124 Turin, Italy"},{"name":"Pathology Unit, FPO-IRCCS Candiolo Cancer Institute, 10060 Candiolo, Italy"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0000-0001-7340-0708","authenticated-orcid":false,"given":"Marco","family":"Tatullo","sequence":"additional","affiliation":[{"name":"Department of Translational Biomedicine and Neuroscience (DiBraiN), University of Bari \u201cAldo Moro\u201d, 70121 Bari, Italy"},{"name":"Honorary Senior Clinical Lecturer\u2014University of Dundee, Dundee DD1 4HR, UK"},{"name":"Founding Member of MIRROR\u2014Medical Institute for Regeneration and Repairing and Organ Replacement, Interdepartmental Center, University of Bari \u201cAldo Moro\u201d, 70124 Bari, Italy"}],"role":[{"vocabulary":"crossref","role":"author"}]}],"member":"1968","published-online":{"date-parts":[[2022,11,19]]},"reference":[{"key":"ref_1","doi-asserted-by":"crossref","first-page":"673","DOI":"10.1038\/nrendo.2014.163","article-title":"Genetic regulation of mammalian gonad development","volume":"10","author":"Eggers","year":"2014","journal-title":"Nat. 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