Klinefelter syndrome is a relatively common chromosomal condition affecting approximately 1 in 500-1,000 males. 46, XX /47 XXY Klinefelter Syndrome mosaicism is rare enough, resulting in a few cases described in literature. Variable phenotypes and clinical presentations such as gynecomastia, infertility, cryptorchidism, and disorders of sexual development (DSD) are associated with this karyotype presentation. The association of Klinefelter syndrome mosaicism 46 XX/47 XXY and OT DSD is a rare feature. We report the case of a 34-year-old man who presented for semen analysis and karyotyping in our unit. The patient had bilateral gynecomastia and absence of facial hair. Penile length was 4,5 cm with an external meatus located on the posterior face of the phallus, characterizing a posterior hypospadias. Testis was palpable in the right hemiscrotum, but the left hemiscrotum was empty. Ultrasonography revealed the presence of the left gonad located in the left iliac fossa, while the right gonad in the scrotum had testicular morphology according to ultrasound exam. Chromosomal analysis revealed 46, XX/47, XXY mosaicism, and semen analysis an azoospermia. Our patient underwent surgery because of the risk of malignancy, and histopathologic examination of the left excised gonad confirmed the structure to be an ovotestis. The biopsy of the right gonad, realized for eventual cryopreservation, revealed atrophic seminiferous tubules and a pseudo tumoral aspect of Leydig cells with hyperplasia without atypia. Personalized approach and multidisciplinary care are needed to get a diagnosis, resolve sex reassignment, and improve the quality of life of the patient. In that feature, the percentage of XX cells could play a role on phenotype, particularly on Müllerrian structure persistence, but also on a relative increased risk of malignancy degenerescence compared to other cases of OT-DSD.
| Published in | International Journal of Genetics and Genomics (Volume 12, Issue 4) |
| DOI | 10.11648/j.ijgg.20241204.13 |
| Page(s) | 86-92 |
| Creative Commons |
This is an Open Access article, distributed under the terms of the Creative Commons Attribution 4.0 International License (http://creativecommons.org/licenses/by/4.0/), which permits unrestricted use, distribution and reproduction in any medium or format, provided the original work is properly cited. |
| Copyright |
Copyright © The Author(s), 2024. Published by Science Publishing Group |
KS Mosaicism, Ovo testis (OT)-DSD, Percentage of 46, XX Clone Cells, Germ Cell Tumor
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APA Style
S. Y., M., Dial, C. M., Diallo, A. D., Ibondou, R. K., Diallo, A. S., et al. (2024). Klinefelter Mosaicism 46, XX/47, XXY with Ovotestis- DSD. International Journal of Genetics and Genomics, 12(4), 86-92. https://doi.org/10.11648/j.ijgg.20241204.13
ACS Style
S. Y., M.; Dial, C. M.; Diallo, A. D.; Ibondou, R. K.; Diallo, A. S., et al. Klinefelter Mosaicism 46, XX/47, XXY with Ovotestis- DSD. Int. J. Genet. Genomics 2024, 12(4), 86-92. doi: 10.11648/j.ijgg.20241204.13
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Download@article{10.11648/j.ijgg.20241204.13,
author = {Mama S. Y. and Chérif Mouhamed Dial and Adji Djeynaba Diallo and Racha Kamenda Ibondou and Abdoulaye Séga Diallo and Oumar Faye},
title = {Klinefelter Mosaicism 46, XX/47, XXY with Ovotestis- DSD
},
journal = {International Journal of Genetics and Genomics},
volume = {12},
number = {4},
pages = {86-92},
doi = {10.11648/j.ijgg.20241204.13},
url = {https://doi.org/10.11648/j.ijgg.20241204.13},
eprint = {https://article.sciencepublishinggroup.com/pdf/10.11648.j.ijgg.20241204.13},
abstract = {Klinefelter syndrome is a relatively common chromosomal condition affecting approximately 1 in 500-1,000 males. 46, XX /47 XXY Klinefelter Syndrome mosaicism is rare enough, resulting in a few cases described in literature. Variable phenotypes and clinical presentations such as gynecomastia, infertility, cryptorchidism, and disorders of sexual development (DSD) are associated with this karyotype presentation. The association of Klinefelter syndrome mosaicism 46 XX/47 XXY and OT DSD is a rare feature. We report the case of a 34-year-old man who presented for semen analysis and karyotyping in our unit. The patient had bilateral gynecomastia and absence of facial hair. Penile length was 4,5 cm with an external meatus located on the posterior face of the phallus, characterizing a posterior hypospadias. Testis was palpable in the right hemiscrotum, but the left hemiscrotum was empty. Ultrasonography revealed the presence of the left gonad located in the left iliac fossa, while the right gonad in the scrotum had testicular morphology according to ultrasound exam. Chromosomal analysis revealed 46, XX/47, XXY mosaicism, and semen analysis an azoospermia. Our patient underwent surgery because of the risk of malignancy, and histopathologic examination of the left excised gonad confirmed the structure to be an ovotestis. The biopsy of the right gonad, realized for eventual cryopreservation, revealed atrophic seminiferous tubules and a pseudo tumoral aspect of Leydig cells with hyperplasia without atypia. Personalized approach and multidisciplinary care are needed to get a diagnosis, resolve sex reassignment, and improve the quality of life of the patient. In that feature, the percentage of XX cells could play a role on phenotype, particularly on Müllerrian structure persistence, but also on a relative increased risk of malignancy degenerescence compared to other cases of OT-DSD.
},
year = {2024}
}
TY - JOUR T1 - Klinefelter Mosaicism 46, XX/47, XXY with Ovotestis- DSD AU - Mama S. Y. AU - Chérif Mouhamed Dial AU - Adji Djeynaba Diallo AU - Racha Kamenda Ibondou AU - Abdoulaye Séga Diallo AU - Oumar Faye Y1 - 2024/11/26 PY - 2024 N1 - https://doi.org/10.11648/j.ijgg.20241204.13 DO - 10.11648/j.ijgg.20241204.13 T2 - International Journal of Genetics and Genomics JF - International Journal of Genetics and Genomics JO - International Journal of Genetics and Genomics SP - 86 EP - 92 PB - Science Publishing Group SN - 2376-7359 UR - https://doi.org/10.11648/j.ijgg.20241204.13 AB - Klinefelter syndrome is a relatively common chromosomal condition affecting approximately 1 in 500-1,000 males. 46, XX /47 XXY Klinefelter Syndrome mosaicism is rare enough, resulting in a few cases described in literature. Variable phenotypes and clinical presentations such as gynecomastia, infertility, cryptorchidism, and disorders of sexual development (DSD) are associated with this karyotype presentation. The association of Klinefelter syndrome mosaicism 46 XX/47 XXY and OT DSD is a rare feature. We report the case of a 34-year-old man who presented for semen analysis and karyotyping in our unit. The patient had bilateral gynecomastia and absence of facial hair. Penile length was 4,5 cm with an external meatus located on the posterior face of the phallus, characterizing a posterior hypospadias. Testis was palpable in the right hemiscrotum, but the left hemiscrotum was empty. Ultrasonography revealed the presence of the left gonad located in the left iliac fossa, while the right gonad in the scrotum had testicular morphology according to ultrasound exam. Chromosomal analysis revealed 46, XX/47, XXY mosaicism, and semen analysis an azoospermia. Our patient underwent surgery because of the risk of malignancy, and histopathologic examination of the left excised gonad confirmed the structure to be an ovotestis. The biopsy of the right gonad, realized for eventual cryopreservation, revealed atrophic seminiferous tubules and a pseudo tumoral aspect of Leydig cells with hyperplasia without atypia. Personalized approach and multidisciplinary care are needed to get a diagnosis, resolve sex reassignment, and improve the quality of life of the patient. In that feature, the percentage of XX cells could play a role on phenotype, particularly on Müllerrian structure persistence, but also on a relative increased risk of malignancy degenerescence compared to other cases of OT-DSD. VL - 12 IS - 4 ER -
Laboratory of Histology Embryology and Cytogenetics, Faculty of Medicine, Cheikh Anta Diop University, Dakar, Senegal
