A Duplication Upstream of SOX9 Associated with SRY Negative 46,XX Ovotesticular Disorder of Sex Development: A Case Report
The 46,XX ovotesticular disorder of sex development (DSD) is rarely observed in humans. This disorder is generally described as ambiguous genitalia with the presence of ovarian and testicular tissues in different gonads or in the same gonad. Almost no subjects with 46,XX ovotesticular DSD have sex-d...
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| Format: | Article |
| Language: | English |
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Galenos Yayincilik
2020-09-01
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| Series: | JCRPE |
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http://www.jcrpe.org/archives/archive-detail/article-preview/a-duplication-upstream-of-sox9-associated-with-isr/30092
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| _version_ | 1797913348268883968 |
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| author | Eda Mengen Gülsüm Kayhan Pınar Kocaay Seyit Ahmet Uçaktürk |
| author_facet | Eda Mengen Gülsüm Kayhan Pınar Kocaay Seyit Ahmet Uçaktürk |
| author_sort | Eda Mengen |
| collection | DOAJ |
| description | The 46,XX ovotesticular disorder of sex development (DSD) is rarely observed in humans. This disorder is generally described as ambiguous genitalia with the presence of ovarian and testicular tissues in different gonads or in the same gonad. Almost no subjects with 46,XX ovotesticular DSD have sex-determining region of the Y chromosome (SRY) gene. It is known that excessive expression of SRY-related high mobility group box 9 (SOX9) is the cause of SRY-negative 46,XX ovotesticular DSD in the absence of SRY. Here, we analyzed our SRY-negative case with 46,XX ovotesticular DSD. In an array comparative genomic hybridization study using a peripheral blood sample from the patient, a duplication of 1114 kb (Hg19 coordinates: chr17:69006280-70120619) in the region of 17q24.3 containing SOX9 was detected. This is the first case reported from Turkey, exhibiting SOX9 duplication in SRY-negative 46,XX ovotesticular DSD. |
| first_indexed | 2024-04-10T12:10:25Z |
| format | Article |
| id | doaj.art-a455cf3bc9a14e91819453abcf77f76b |
| institution | Directory Open Access Journal |
| issn | 1308-5727 1308-5735 |
| language | English |
| last_indexed | 2024-04-10T12:10:25Z |
| publishDate | 2020-09-01 |
| publisher | Galenos Yayincilik |
| record_format | Article |
| series | JCRPE |
| spelling | doaj.art-a455cf3bc9a14e91819453abcf77f76b2023-02-15T16:16:00ZengGalenos YayincilikJCRPE1308-57271308-57352020-09-0112330831410.4274/jcrpe.galenos.2019.2019.010113049054A Duplication Upstream of SOX9 Associated with SRY Negative 46,XX Ovotesticular Disorder of Sex Development: A Case ReportEda Mengen0Gülsüm Kayhan1Pınar Kocaay2Seyit Ahmet Uçaktürk3 Ankara City Hospital, Children’s Hospital, Clinic of Pediatric Endocrinology, Ankara, Turkey Gazi University Faculty of Medicine, Department of Medical Genetics, Ankara, Turkey Ankara City Hospital, Children’s Hospital, Clinic of Pediatric Endocrinology, Ankara, Turkey Ankara City Hospital, Children’s Hospital, Clinic of Pediatric Endocrinology, Ankara, Turkey The 46,XX ovotesticular disorder of sex development (DSD) is rarely observed in humans. This disorder is generally described as ambiguous genitalia with the presence of ovarian and testicular tissues in different gonads or in the same gonad. Almost no subjects with 46,XX ovotesticular DSD have sex-determining region of the Y chromosome (SRY) gene. It is known that excessive expression of SRY-related high mobility group box 9 (SOX9) is the cause of SRY-negative 46,XX ovotesticular DSD in the absence of SRY. Here, we analyzed our SRY-negative case with 46,XX ovotesticular DSD. In an array comparative genomic hybridization study using a peripheral blood sample from the patient, a duplication of 1114 kb (Hg19 coordinates: chr17:69006280-70120619) in the region of 17q24.3 containing SOX9 was detected. This is the first case reported from Turkey, exhibiting SOX9 duplication in SRY-negative 46,XX ovotesticular DSD. http://www.jcrpe.org/archives/archive-detail/article-preview/a-duplication-upstream-of-sox9-associated-with-isr/30092 46xx ovotesticular disorder of sex developmentsry-negativesox9 |
| spellingShingle | Eda Mengen Gülsüm Kayhan Pınar Kocaay Seyit Ahmet Uçaktürk A Duplication Upstream of SOX9 Associated with SRY Negative 46,XX Ovotesticular Disorder of Sex Development: A Case Report JCRPE 46 xx ovotesticular disorder of sex development sry-negative sox9 |
| title | A Duplication Upstream of SOX9 Associated with SRY Negative 46,XX Ovotesticular Disorder of Sex Development: A Case Report |
| title_full | A Duplication Upstream of SOX9 Associated with SRY Negative 46,XX Ovotesticular Disorder of Sex Development: A Case Report |
| title_fullStr | A Duplication Upstream of SOX9 Associated with SRY Negative 46,XX Ovotesticular Disorder of Sex Development: A Case Report |
| title_full_unstemmed | A Duplication Upstream of SOX9 Associated with SRY Negative 46,XX Ovotesticular Disorder of Sex Development: A Case Report |
| title_short | A Duplication Upstream of SOX9 Associated with SRY Negative 46,XX Ovotesticular Disorder of Sex Development: A Case Report |
| title_sort | duplication upstream of sox9 associated with sry negative 46 xx ovotesticular disorder of sex development a case report |
| topic | 46 xx ovotesticular disorder of sex development sry-negative sox9 |
| url |
http://www.jcrpe.org/archives/archive-detail/article-preview/a-duplication-upstream-of-sox9-associated-with-isr/30092
|
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