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Rare Disorder of Sexual Differentiation with a Mosaic 46,XX/47,XXY in a Klinefelter Syndrome Individual
BACKGROUND: Klinefelter syndrome (KS) mosaicism 46,XX/47,XXY is an extremely rare disorder of sex development characterized by the presence of both ovarian and testicular tissues in the same individual. Both elements can be present in the same gonad (ovotestis) or separately in the same individual o...
Autores principales: | , , |
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Formato: | Online Artículo Texto |
Lenguaje: | English |
Publicado: |
Avicenna Research Institute
2020
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Materias: | |
Acceso en línea: | https://www.ncbi.nlm.nih.gov/pmc/articles/PMC7362088/ https://www.ncbi.nlm.nih.gov/pubmed/32685420 |
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author | Pattamshetty, Preethi Mantri, Harika Mohan, Vasavi |
author_facet | Pattamshetty, Preethi Mantri, Harika Mohan, Vasavi |
author_sort | Pattamshetty, Preethi |
collection | PubMed |
description | BACKGROUND: Klinefelter syndrome (KS) mosaicism 46,XX/47,XXY is an extremely rare disorder of sex development characterized by the presence of both ovarian and testicular tissues in the same individual. Both elements can be present in the same gonad (ovotestis) or separately in the same individual or as a unilateral ovotestis and the other side with testis or ovary. A mosaic with 46,XY would present with problems related to male infertility and in general, testicular insufficiency, but with a 46,XX mosaic, it is a completely rare presentation. As adolescents, these boys may experience severe emotional and behavioral issues; it is up to the parents to identify these conditions early and get them physician evaluated for possible abnormalities so that they can get the benefit of treatment. CASE PRESENTATION: A case of a rare disorder of sexual differentiation with a mosaic 46,XX/47,XXY in a KS individual is reported for whom karyotyping and SRY-FISH work-up was done. CONCLUSION: Early cytogenetic testing is essential to identify these individuals and testosterone replacement therapy and breast reduction for case management are helpful. Assisted reproductive technology (ART) may assist these individuals father children in some cases. |
format | Online Article Text |
id | pubmed-7362088 |
institution | National Center for Biotechnology Information |
language | English |
publishDate | 2020 |
publisher | Avicenna Research Institute |
record_format | MEDLINE/PubMed |
spelling | pubmed-73620882020-07-16 Rare Disorder of Sexual Differentiation with a Mosaic 46,XX/47,XXY in a Klinefelter Syndrome Individual Pattamshetty, Preethi Mantri, Harika Mohan, Vasavi J Reprod Infertil Case Report BACKGROUND: Klinefelter syndrome (KS) mosaicism 46,XX/47,XXY is an extremely rare disorder of sex development characterized by the presence of both ovarian and testicular tissues in the same individual. Both elements can be present in the same gonad (ovotestis) or separately in the same individual or as a unilateral ovotestis and the other side with testis or ovary. A mosaic with 46,XY would present with problems related to male infertility and in general, testicular insufficiency, but with a 46,XX mosaic, it is a completely rare presentation. As adolescents, these boys may experience severe emotional and behavioral issues; it is up to the parents to identify these conditions early and get them physician evaluated for possible abnormalities so that they can get the benefit of treatment. CASE PRESENTATION: A case of a rare disorder of sexual differentiation with a mosaic 46,XX/47,XXY in a KS individual is reported for whom karyotyping and SRY-FISH work-up was done. CONCLUSION: Early cytogenetic testing is essential to identify these individuals and testosterone replacement therapy and breast reduction for case management are helpful. Assisted reproductive technology (ART) may assist these individuals father children in some cases. Avicenna Research Institute 2020 /pmc/articles/PMC7362088/ /pubmed/32685420 Text en Copyright© 2020, Avicenna Research Institute. http://creativecommons.org/licenses/by/3.0/ This is an open-access article distributed under the terms of the Creative Commons Attribution License, which permits unrestricted use, distribution, and reproduction in any medium, provided the original work is properly cited. |
spellingShingle | Case Report Pattamshetty, Preethi Mantri, Harika Mohan, Vasavi Rare Disorder of Sexual Differentiation with a Mosaic 46,XX/47,XXY in a Klinefelter Syndrome Individual |
title | Rare Disorder of Sexual Differentiation with a Mosaic 46,XX/47,XXY in a Klinefelter Syndrome Individual |
title_full | Rare Disorder of Sexual Differentiation with a Mosaic 46,XX/47,XXY in a Klinefelter Syndrome Individual |
title_fullStr | Rare Disorder of Sexual Differentiation with a Mosaic 46,XX/47,XXY in a Klinefelter Syndrome Individual |
title_full_unstemmed | Rare Disorder of Sexual Differentiation with a Mosaic 46,XX/47,XXY in a Klinefelter Syndrome Individual |
title_short | Rare Disorder of Sexual Differentiation with a Mosaic 46,XX/47,XXY in a Klinefelter Syndrome Individual |
title_sort | rare disorder of sexual differentiation with a mosaic 46,xx/47,xxy in a klinefelter syndrome individual |
topic | Case Report |
url | https://www.ncbi.nlm.nih.gov/pmc/articles/PMC7362088/ https://www.ncbi.nlm.nih.gov/pubmed/32685420 |
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