A patient with 46,XY/47,XYY karyotype and female phenotype: a case report
Abstract Background 47,XYY is a chromosomal abnormality syndrome that is typically observed in patients with a male phenotype. Few patients with XYY syndrome will have infertility. We here report a case of 46,XY/47,XYY syndrome diagnosed in a patient with a female phenotype. Case presentation A 15-y...
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| Format: | Article |
| Language: | English |
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BMC
2020-03-01
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| Series: | BMC Endocrine Disorders |
| Subjects: | |
| Online Access: | http://link.springer.com/article/10.1186/s12902-020-0523-8 |
| _version_ | 1818972589964394496 |
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| author | Zhi-Hui Liu Shi-Chao Zhou Jun-Wen Du Kun Zhang Tao Wu |
| author_facet | Zhi-Hui Liu Shi-Chao Zhou Jun-Wen Du Kun Zhang Tao Wu |
| author_sort | Zhi-Hui Liu |
| collection | DOAJ |
| description | Abstract Background 47,XYY is a chromosomal abnormality syndrome that is typically observed in patients with a male phenotype. Few patients with XYY syndrome will have infertility. We here report a case of 46,XY/47,XYY syndrome diagnosed in a patient with a female phenotype. Case presentation A 15-year-old patient with a female phenotype visited our hospital owing to a chief complaint of short stature as of the age of 6 years. She was diagnosed with dwarf syndrome at the age of 10, but no change was noted after 2 months of growth hormone treatment. The patient’s height was 136 cm and the weight was 29 kg, both of which were below the third percentile for her age/gender. In addition to short stature, the 4th and 5th metacarpals were short and there was no significant sex development. Karyotype analysis showed 47,XYY, and chromosomal microarray examination showed a chimera of 46,XY/47,XYY. Conclusion This is an extremely rare case of 47,XYY abnormality in a patient with a female phenotype, with only one such known case reported previously. Since the cause is unknown, and symptoms of this syndrome are highly atypical and variable in childhood, clinicians should be aware of this possibility to avoid misdiagnosis and offer counseling and hormone therapy as needed to patients and their parents to improve their quality of life. |
| first_indexed | 2024-12-20T15:10:41Z |
| format | Article |
| id | doaj.art-7fe60b9d2ac449689e2e32fd7db5e7b1 |
| institution | Directory Open Access Journal |
| issn | 1472-6823 |
| language | English |
| last_indexed | 2024-12-20T15:10:41Z |
| publishDate | 2020-03-01 |
| publisher | BMC |
| record_format | Article |
| series | BMC Endocrine Disorders |
| spelling | doaj.art-7fe60b9d2ac449689e2e32fd7db5e7b12022-12-21T19:36:20ZengBMCBMC Endocrine Disorders1472-68232020-03-012011410.1186/s12902-020-0523-8A patient with 46,XY/47,XYY karyotype and female phenotype: a case reportZhi-Hui Liu0Shi-Chao Zhou1Jun-Wen Du2Kun Zhang3Tao Wu4Department of Endocrinology and Metabolism, The First Hospital of Shijiazhuang CityDepartment of Endocrinology and Metabolism, The First Hospital of Shijiazhuang CityDepartment of Endocrinology and Metabolism, The First Hospital of Shijiazhuang CityDepartment of Endocrinology and Metabolism, The First Hospital of Shijiazhuang CityDepartment of Endocrinology and Metabolism, The First Hospital of Shijiazhuang CityAbstract Background 47,XYY is a chromosomal abnormality syndrome that is typically observed in patients with a male phenotype. Few patients with XYY syndrome will have infertility. We here report a case of 46,XY/47,XYY syndrome diagnosed in a patient with a female phenotype. Case presentation A 15-year-old patient with a female phenotype visited our hospital owing to a chief complaint of short stature as of the age of 6 years. She was diagnosed with dwarf syndrome at the age of 10, but no change was noted after 2 months of growth hormone treatment. The patient’s height was 136 cm and the weight was 29 kg, both of which were below the third percentile for her age/gender. In addition to short stature, the 4th and 5th metacarpals were short and there was no significant sex development. Karyotype analysis showed 47,XYY, and chromosomal microarray examination showed a chimera of 46,XY/47,XYY. Conclusion This is an extremely rare case of 47,XYY abnormality in a patient with a female phenotype, with only one such known case reported previously. Since the cause is unknown, and symptoms of this syndrome are highly atypical and variable in childhood, clinicians should be aware of this possibility to avoid misdiagnosis and offer counseling and hormone therapy as needed to patients and their parents to improve their quality of life.http://link.springer.com/article/10.1186/s12902-020-0523-847,XYYChromosomeManifestation |
| spellingShingle | Zhi-Hui Liu Shi-Chao Zhou Jun-Wen Du Kun Zhang Tao Wu A patient with 46,XY/47,XYY karyotype and female phenotype: a case report BMC Endocrine Disorders 47,XYY Chromosome Manifestation |
| title | A patient with 46,XY/47,XYY karyotype and female phenotype: a case report |
| title_full | A patient with 46,XY/47,XYY karyotype and female phenotype: a case report |
| title_fullStr | A patient with 46,XY/47,XYY karyotype and female phenotype: a case report |
| title_full_unstemmed | A patient with 46,XY/47,XYY karyotype and female phenotype: a case report |
| title_short | A patient with 46,XY/47,XYY karyotype and female phenotype: a case report |
| title_sort | patient with 46 xy 47 xyy karyotype and female phenotype a case report |
| topic | 47,XYY Chromosome Manifestation |
| url | http://link.springer.com/article/10.1186/s12902-020-0523-8 |
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