Triple-x syndrome accompanied by congenital adrenal hyperplasia: case report
The 47,XXX karyotype is a rare sex chromosome anomaly. This karyotype is usually not associated with a characteristic physical phenotype. In the presented case, a triple-X girl patient associated with 11beta-hydroxylase deficiency is identified. The case was referred to the Endocrinology Unit...
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| Format: | Article |
| Language: | English |
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Hacettepe University Institute of Child Health
2004-10-01
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| Series: | The Turkish Journal of Pediatrics |
| Online Access: | https://turkjpediatr.org/article/view/2840 |
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| _version_ | 1850236526118567936 |
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| author | Selim Kurtoğlu M Emre Atabek Mustafa Akçakuş Yusuf Ozkul Cetin Saatçi |
| author_facet | Selim Kurtoğlu M Emre Atabek Mustafa Akçakuş Yusuf Ozkul Cetin Saatçi |
| author_sort | Selim Kurtoğlu |
| collection | DOAJ |
| description |
The 47,XXX karyotype is a rare sex chromosome anomaly. This karyotype is usually not associated with a characteristic physical phenotype. In the presented case, a triple-X girl patient associated with 11beta-hydroxylase deficiency is identified. The case was referred to the Endocrinology Unit at six days of age because of ambiguous genitalia. The karyotype in this case was 47,XXX, an unexpected finding. Diagnosis of 47,XXX individuals remains difficult because specific clinical criteria used to identify this condition are not available. Congenital adrenal hyperplasia has not been previously reported in patients with triple-X syndrome.
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| format | Article |
| id | doaj-art-9252f426ebf949e6a3bfa3637883a936 |
| institution | OA Journals |
| issn | 0041-4301 2791-6421 |
| language | English |
| publishDate | 2004-10-01 |
| publisher | Hacettepe University Institute of Child Health |
| record_format | Article |
| series | The Turkish Journal of Pediatrics |
| spelling | doaj-art-9252f426ebf949e6a3bfa3637883a9362025-08-20T02:01:57ZengHacettepe University Institute of Child HealthThe Turkish Journal of Pediatrics0041-43012791-64212004-10-01464Triple-x syndrome accompanied by congenital adrenal hyperplasia: case reportSelim Kurtoğlu0M Emre AtabekMustafa AkçakuşYusuf OzkulCetin SaatçiDepartment of Pediatrics, Erciyes University Faculty of Medicine, Kayseri, Turkey. The 47,XXX karyotype is a rare sex chromosome anomaly. This karyotype is usually not associated with a characteristic physical phenotype. In the presented case, a triple-X girl patient associated with 11beta-hydroxylase deficiency is identified. The case was referred to the Endocrinology Unit at six days of age because of ambiguous genitalia. The karyotype in this case was 47,XXX, an unexpected finding. Diagnosis of 47,XXX individuals remains difficult because specific clinical criteria used to identify this condition are not available. Congenital adrenal hyperplasia has not been previously reported in patients with triple-X syndrome. https://turkjpediatr.org/article/view/2840 |
| spellingShingle | Selim Kurtoğlu M Emre Atabek Mustafa Akçakuş Yusuf Ozkul Cetin Saatçi Triple-x syndrome accompanied by congenital adrenal hyperplasia: case report The Turkish Journal of Pediatrics |
| title | Triple-x syndrome accompanied by congenital adrenal hyperplasia: case report |
| title_full | Triple-x syndrome accompanied by congenital adrenal hyperplasia: case report |
| title_fullStr | Triple-x syndrome accompanied by congenital adrenal hyperplasia: case report |
| title_full_unstemmed | Triple-x syndrome accompanied by congenital adrenal hyperplasia: case report |
| title_short | Triple-x syndrome accompanied by congenital adrenal hyperplasia: case report |
| title_sort | triple x syndrome accompanied by congenital adrenal hyperplasia case report |
| url | https://turkjpediatr.org/article/view/2840 |
| work_keys_str_mv | AT selimkurtoglu triplexsyndromeaccompaniedbycongenitaladrenalhyperplasiacasereport AT memreatabek triplexsyndromeaccompaniedbycongenitaladrenalhyperplasiacasereport AT mustafaakcakus triplexsyndromeaccompaniedbycongenitaladrenalhyperplasiacasereport AT yusufozkul triplexsyndromeaccompaniedbycongenitaladrenalhyperplasiacasereport AT cetinsaatci triplexsyndromeaccompaniedbycongenitaladrenalhyperplasiacasereport |