A Rare 46,X,t(Y;10)(q12;p14) Balanced Translocation in Non-Obstructive Azoospermic Patient with Elevated FSH and LH Levels
Structural chromosomal aberrations like translocations have been shown to cause spermatogenic failure. We report a rare 46,X,t(Y;10)(q12;p14) balanced translocation in an otherwise healthy non-obstructive azoospermic male with high follicle-stimulating hormone (26.65 IU/L) and high luteinizing hormo...
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| Format: | Article |
| Language: | English |
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Wiley
2023-01-01
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| Series: | Case Reports in Genetics |
| Online Access: | http://dx.doi.org/10.1155/2023/6722623 |
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| author | Kousar Jahan Syeeda Khursheed Mohammed Rahman Kaleemullah Annu Joseph Mohammed Hasan Al Durazi Moiz Bakhiet |
| author_facet | Kousar Jahan Syeeda Khursheed Mohammed Rahman Kaleemullah Annu Joseph Mohammed Hasan Al Durazi Moiz Bakhiet |
| author_sort | Kousar Jahan Syeeda Khursheed |
| collection | DOAJ |
| description | Structural chromosomal aberrations like translocations have been shown to cause spermatogenic failure. We report a rare 46,X,t(Y;10)(q12;p14) balanced translocation in an otherwise healthy non-obstructive azoospermic male with high follicle-stimulating hormone (26.65 IU/L) and high luteinizing hormone (13.58 IU/L). The patient was referred to us after clinical, hormonal, and histopathological investigations to identify chromosomal abnormalities by karyotyping and fluorescence in situ hybridization (FISH). Analysis of the banding pattern by karyotyping followed by FISH confirmed reciprocal translocation and identified the breakpoints at Yq heterochromatin (Yq12) and 10p14. Further molecular tests including AZF microdeletion assay were done, and the results, which showed no mutations in the analyzed genes, were provided by the referring doctor. Thus, our study points to the importance of conventional cytogenetic techniques in the preliminary evaluation of a genetic abnormality in cases of infertility and would help the patient make an informed decision before pursuing assisted reproductive technology. |
| format | Article |
| id | doaj-art-f259b332c9fa42a78563af99857de4e2 |
| institution | Kabale University |
| issn | 2090-6552 |
| language | English |
| publishDate | 2023-01-01 |
| publisher | Wiley |
| record_format | Article |
| series | Case Reports in Genetics |
| spelling | doaj-art-f259b332c9fa42a78563af99857de4e22025-02-03T01:29:35ZengWileyCase Reports in Genetics2090-65522023-01-01202310.1155/2023/6722623A Rare 46,X,t(Y;10)(q12;p14) Balanced Translocation in Non-Obstructive Azoospermic Patient with Elevated FSH and LH LevelsKousar Jahan Syeeda Khursheed0Mohammed Rahman Kaleemullah1Annu Joseph2Mohammed Hasan Al Durazi3Moiz Bakhiet4Department of Molecular MedicineDepartment of Molecular MedicineDepartment of Molecular MedicineConsultant Genitourinary SurgeonDepartment of Molecular MedicineStructural chromosomal aberrations like translocations have been shown to cause spermatogenic failure. We report a rare 46,X,t(Y;10)(q12;p14) balanced translocation in an otherwise healthy non-obstructive azoospermic male with high follicle-stimulating hormone (26.65 IU/L) and high luteinizing hormone (13.58 IU/L). The patient was referred to us after clinical, hormonal, and histopathological investigations to identify chromosomal abnormalities by karyotyping and fluorescence in situ hybridization (FISH). Analysis of the banding pattern by karyotyping followed by FISH confirmed reciprocal translocation and identified the breakpoints at Yq heterochromatin (Yq12) and 10p14. Further molecular tests including AZF microdeletion assay were done, and the results, which showed no mutations in the analyzed genes, were provided by the referring doctor. Thus, our study points to the importance of conventional cytogenetic techniques in the preliminary evaluation of a genetic abnormality in cases of infertility and would help the patient make an informed decision before pursuing assisted reproductive technology.http://dx.doi.org/10.1155/2023/6722623 |
| spellingShingle | Kousar Jahan Syeeda Khursheed Mohammed Rahman Kaleemullah Annu Joseph Mohammed Hasan Al Durazi Moiz Bakhiet A Rare 46,X,t(Y;10)(q12;p14) Balanced Translocation in Non-Obstructive Azoospermic Patient with Elevated FSH and LH Levels Case Reports in Genetics |
| title | A Rare 46,X,t(Y;10)(q12;p14) Balanced Translocation in Non-Obstructive Azoospermic Patient with Elevated FSH and LH Levels |
| title_full | A Rare 46,X,t(Y;10)(q12;p14) Balanced Translocation in Non-Obstructive Azoospermic Patient with Elevated FSH and LH Levels |
| title_fullStr | A Rare 46,X,t(Y;10)(q12;p14) Balanced Translocation in Non-Obstructive Azoospermic Patient with Elevated FSH and LH Levels |
| title_full_unstemmed | A Rare 46,X,t(Y;10)(q12;p14) Balanced Translocation in Non-Obstructive Azoospermic Patient with Elevated FSH and LH Levels |
| title_short | A Rare 46,X,t(Y;10)(q12;p14) Balanced Translocation in Non-Obstructive Azoospermic Patient with Elevated FSH and LH Levels |
| title_sort | rare 46 x t y 10 q12 p14 balanced translocation in non obstructive azoospermic patient with elevated fsh and lh levels |
| url | http://dx.doi.org/10.1155/2023/6722623 |
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