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      Mosaic Variant of Turner Syndrome with XY Cell Lines

      case-report

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          ABSTRACT

          Aim

          The aim of this study was to assess the outcome of Turner mosaic variant with multidisciplinary management.

          Background

          Turner syndrome is a complex developmental disorder in individuals with short stature associated with 45X genotype. A mixture of genotypes are also present in approximately 50% of all cases. Individuals with a mosaic 45 X/46XY genotype have a variety of phenotypic presentations, which are not correlated with the percentage of mosaicism.

          Case description

          A case of an 18-year-old girl evaluated for primary amenorrhea who looked phenotypically normal female. Turner mosaic was suspected. Karyotyping and fluorescent in situ hybridization (FISH) of sex chromosomes revealed 46X/46 XY mosaic variant. During chromosomal analysis along with karyotyping, a detailed FISH analysis for sex chromosomes is required in order not to miss out presence of Y chromosome.

          Conclusion

          Turner mosaic with XY variant is a rare condition and management requires multidisciplinary approach. Prophylactic gonadectomy has to be done to prevent gonadoblastoma.

          Clinical significance

          This case is presented to emphasize the importance of proper genetic analysis in order not to miss out the presence of Y chromosome in Turner mosaics.

          How to cite this article

          Sakkarapani S, Govindarajan R, Mahadevan S, et al. Mosaic Variant of Turner Syndrome with XY Cell Lines. J South Asian Feder Obst Gynae 2023;15(3):344–346.

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          Most cited references6

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          Clinical practice guidelines for the care of girls and women with Turner syndrome: proceedings from the 2016 Cincinnati International Turner Syndrome Meeting

          Claus H Gravholt, Niels H Andersen, Gerard S Conway … (2017)
          Turner syndrome affects 25–50 per 100,000 females and can involve multiple organs through all stages of life, necessitating multidisciplinary approach to care. Previous guidelines have highlighted this, but numerous important advances have been noted recently. These advances cover all specialty fields involved in the care of girls and women with TS. This paper is based on an international effort that started with exploratory meetings in 2014 in both Europe and the USA, and culminated with a Consensus Meeting held in Cincinnati, Ohio, USA in July 2016. Prior to this meeting, five groups each addressed important areas in TS care: 1) diagnostic and genetic issues, 2) growth and development during childhood and adolescence, 3) congenital and acquired cardiovascular disease, 4) transition and adult care, and 5) other comorbidities and neurocognitive issues. These groups produced proposals for the present guidelines. Additionally, four pertinent questions were submitted for formal GRADE (Grading of Recommendations, Assessment, Development and Evaluation) evaluation with a separate systematic review of the literature. These four questions related to the efficacy and most optimal treatment of short stature, infertility, hypertension, and hormonal replacement therapy. The guidelines project was initiated by the European Society of Endocrinology and the Pediatric Endocrine Society, in collaboration with the European Society for Paediatric Endocrinology, the Endocrine Society, the European Society of Human Reproduction and Embryology, the American Heart Association, the Society for Endocrinology, and the European Society of Cardiology. The guideline has been formally endorsed by the European Society of Endocrinology, the Pediatric Endocrine Society, the European Society for Paediatric Endocrinology, the European Society of Human Reproduction and Embryology and the Endocrine Society. Advocacy groups appointed representatives who participated in pre-meeting discussions and in the consensus meeting.
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            Parental origin of normal X chromosomes in Turner syndrome patients with various karyotypes: implications for the mechanism leading to generation of a 45,X karyotype.

            J Muroi, Masahiko Kawai, Tohru Yorifuji … (2002)
            The parental origin of the X chromosome of 45,X females has been the subject of many studies, and most of them have shown that the majority (60-80%) of the X chromosomes are maternal in origin. However, studies on the parental origin of normal X chromosomes are relatively limited for Turner syndrome (TS) females with sex chromosome aberrations. In this study, we used PCR-based typing of highly polymorphic markers and an assay of methylation status of the androgen receptor gene to determine the parental origin of normal X chromosomes in 50 unbiased TS females with a variety of karyotypes. Our results showed a higher paternal meiotic error rate leading to the generation of abnormal sex chromosomes, especially in the case of del(Xp) and abnormal Y chromosomes. Isochromosome Xq and ring/marker X chromosomes, on the other hand, were equally likely the result of both maternal and paternal meiotic errors. A thorough review of previous results, together with our data suggests, that the majority of TS karyotype are caused by paternal meiotic errors that generate abnormal sex chromosomes, and that most 45,X cells are generated by mitotic loss of these abnormal sex chromosomes, resulting in maternal X dominance in these cells. Copyright 2002 Wiley-Liss, Inc.
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              A syndrome of infantilism, congenital webbed neck and cubitus valgus.

              HH Turner (2024)
              Article 0 comments Cited 1 times – based on 0 reviews     Review now
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                Author and article information

                Journal
                Journal ID (publisher-id): JSAFOG
                Title: Journal of South Asian Federation of Obstetrics and Gynaecology
                Abbreviated Title: JSAFOG
                Publisher: Jaypee Brothers Medical Publishers
                ISSN (Print): 0974-8938
                ISSN (Electronic): 0975-1920
                Publication date (Print): May-June 2023
                Volume: 15
                Issue: 3
                Pages: 344-346
                Affiliations
                [1,2 ]Department of Obstetrics and Gynecology, Saveetha Medical College, Chennai, Tamil Nadu, India
                [3 ]Department of Endocrinology, Sri Ramachandra Medical College, Chennai, Tamil Nadu, India
                [4 ]Department of Pathology, Saveetha Medical College, Chennai, Tamil Nadu, India
                Author notes
                Sushmitha Sakkarapani, Department of Obstetrics and Gynecology, Saveetha Medical College, Chennai, Tamil Nadu, India, Phone: +91 9677945441, e-mail: sushmi8526@ 123456gmail.com
                Article
                DOI: 10.5005/jp-journals-10006-2235
                SO-VID: df1fd732-859e-4cbe-afd4-9e818e4ca59b
                Copyright © Copyright © 2023; The Author(s).
                License:

                © The Author(s). 2023 Open Access. This article is distributed under the terms of the Creative Commons Attribution 4.0 International License ( https://creativecommons.org/licenses/by-nc/4.0/), which permits unrestricted use, distribution, and non-commercial reproduction in any medium, provided you give appropriate credit to the original author(s) and the source, provide a link to the Creative Commons license, and indicate if changes were made. The Creative Commons Public Domain Dedication waiver ( http://creativecommons.org/publicdomain/zero/1.0/) applies to the data made available in this article, unless otherwise stated.

                History
                Date received : 02 December 2022
                Date accepted : 25 February 2023
                Date: 31 July 2023
                Categories
                Subject: CASE REPORT
                Custom metadata
                file-pdf jsafog-15-344.pdf

                ScienceOpen disciplines: Obstetrics & Gynecology
                Keywords: Karyotyping,Fluorescent in situ hybridization,Case report,Turner mosaic XO/XY variant,Prophylactic gonadectomy,Multidisciplinary approach
                Data availability:
                ScienceOpen disciplines: Obstetrics & Gynecology
                Keywords: Karyotyping, Fluorescent in situ hybridization, Case report, Turner mosaic XO/XY variant, Prophylactic gonadectomy, Multidisciplinary approach

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