A Rare Variant of Turner Syndrome (the X Isochromosome-X Syndrome): A Case Report
Background: Turner syndrome occurs in nearly one in every 2000-5000 female births. This syndrome is a genetic problem in the female phenotype and the most common sex chromosome anomaly. It is diagnosed based on clinical manifestations and cytogenetic examinations. The classic syndrome (i.e., monosom...
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| Format: | Article |
| Language: | English |
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Hormozgan University of Medical Sciences
2021-12-01
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| Series: | Disease and Diagnosis |
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| Online Access: | https://ddj.hums.ac.ir/PDF/ddj-10-177.pdf |
| _version_ | 1818245584643948544 |
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| author | Hamid Reza Samimagham Mitra Kazemi Jahromi |
| author_facet | Hamid Reza Samimagham Mitra Kazemi Jahromi |
| author_sort | Hamid Reza Samimagham |
| collection | DOAJ |
| description | Background: Turner syndrome occurs in nearly one in every 2000-5000 female births. This syndrome is a genetic problem in the female phenotype and the most common sex chromosome anomaly. It is diagnosed based on clinical manifestations and cytogenetic examinations. The classic syndrome (i.e., monosomy X) makes up 50% of the cases while other forms contain X chromosome variants, which do not typically manifest as the classic X phenotype. Case Presentation: This study, presents a rare variant of Turner syndrome reported in a 20-year-old woman presenting with primary amenorrhea, hypothyroidism, and short stature who had hypergonadotropic hypogonadism with hypoplastic ovaries while without the clinical manifestations of the classic Turner syndrome. The karyotype was determined as X isochromosome-X syndrome [46 XXi (Xq)]. Conclusion: This rare syndrome occurs in approximately 7% of the cases of Turner syndrome. Rare variants of the syndrome should also be considered in female patients without the classic manifestations of Turner syndrome. |
| first_indexed | 2024-12-12T14:35:14Z |
| format | Article |
| id | doaj.art-57e33f6d4f214ed2a992ec395ccd447d |
| institution | Directory Open Access Journal |
| issn | 2717-3232 |
| language | English |
| last_indexed | 2024-12-12T14:35:14Z |
| publishDate | 2021-12-01 |
| publisher | Hormozgan University of Medical Sciences |
| record_format | Article |
| series | Disease and Diagnosis |
| spelling | doaj.art-57e33f6d4f214ed2a992ec395ccd447d2022-12-22T00:21:23ZengHormozgan University of Medical SciencesDisease and Diagnosis2717-32322021-12-0110417717910.34172/ddj.2021.31ddj-251A Rare Variant of Turner Syndrome (the X Isochromosome-X Syndrome): A Case ReportHamid Reza Samimagham0Mitra Kazemi Jahromi1Clinical Research Development Center, Shahid Mohammadi Hospital, Hormozgan University of Medical Sciences, Bandar Abbas, Iran.Endocrinology and Metabolism Research Center, Hormozgan University of Medical Sciences, Bandar Abbas, Iran.Background: Turner syndrome occurs in nearly one in every 2000-5000 female births. This syndrome is a genetic problem in the female phenotype and the most common sex chromosome anomaly. It is diagnosed based on clinical manifestations and cytogenetic examinations. The classic syndrome (i.e., monosomy X) makes up 50% of the cases while other forms contain X chromosome variants, which do not typically manifest as the classic X phenotype. Case Presentation: This study, presents a rare variant of Turner syndrome reported in a 20-year-old woman presenting with primary amenorrhea, hypothyroidism, and short stature who had hypergonadotropic hypogonadism with hypoplastic ovaries while without the clinical manifestations of the classic Turner syndrome. The karyotype was determined as X isochromosome-X syndrome [46 XXi (Xq)]. Conclusion: This rare syndrome occurs in approximately 7% of the cases of Turner syndrome. Rare variants of the syndrome should also be considered in female patients without the classic manifestations of Turner syndrome.https://ddj.hums.ac.ir/PDF/ddj-10-177.pdfturner syndromeamenorrheax isochromosome-x syndrome |
| spellingShingle | Hamid Reza Samimagham Mitra Kazemi Jahromi A Rare Variant of Turner Syndrome (the X Isochromosome-X Syndrome): A Case Report Disease and Diagnosis turner syndrome amenorrhea x isochromosome-x syndrome |
| title | A Rare Variant of Turner Syndrome (the X Isochromosome-X Syndrome): A Case Report |
| title_full | A Rare Variant of Turner Syndrome (the X Isochromosome-X Syndrome): A Case Report |
| title_fullStr | A Rare Variant of Turner Syndrome (the X Isochromosome-X Syndrome): A Case Report |
| title_full_unstemmed | A Rare Variant of Turner Syndrome (the X Isochromosome-X Syndrome): A Case Report |
| title_short | A Rare Variant of Turner Syndrome (the X Isochromosome-X Syndrome): A Case Report |
| title_sort | rare variant of turner syndrome the x isochromosome x syndrome a case report |
| topic | turner syndrome amenorrhea x isochromosome-x syndrome |
| url | https://ddj.hums.ac.ir/PDF/ddj-10-177.pdf |
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