An Adolescent Boy with Klinefelter Syndrome and 47,XXY/46,XX Mosaicism: Case Report and Review of Literature
Klinefelter syndrome is the most commonly reported sex chromosome abnormality. It is heavily underdiagnosed due to the substantial variability of clinical presentations but is generally characterized by small, firm testes, hypergonadotropic hypogonadism, and the absence of spermatogenesis. Most pati...
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| Format: | Article |
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MDPI AG
2022-04-01
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| Series: | Genes |
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| Online Access: | https://www.mdpi.com/2073-4425/13/5/744 |
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| author | Tinka Hovnik Eva Zitnik Magdalena Avbelj Stefanija Sara Bertok Katarina Sedej Vesna Bancic Silva Tadej Battelino Urh Groselj |
| author_facet | Tinka Hovnik Eva Zitnik Magdalena Avbelj Stefanija Sara Bertok Katarina Sedej Vesna Bancic Silva Tadej Battelino Urh Groselj |
| author_sort | Tinka Hovnik |
| collection | DOAJ |
| description | Klinefelter syndrome is the most commonly reported sex chromosome abnormality. It is heavily underdiagnosed due to the substantial variability of clinical presentations but is generally characterized by small, firm testes, hypergonadotropic hypogonadism, and the absence of spermatogenesis. Most patients with Klinefelter syndrome have a 47,XXY genotype. If they present with mosaicism, two different cell lines are usually identified, an aneuploid 47,XXY cell line and a normal male 46,XY cell line. There are very few cases of 47,XXY mosaicism with the additional female cell line 46,XX described in the literature. We report a case of an adolescent with the male phenotype and a rare variant mosaic 47,XXY/46,XX karyotype who presented with painless bilateral gynaecomastia. 47,XXY and 46,XX mosaic cell lines were identified with GTG-banding and further characterized using fluorescent in situ hybridization. We summarized the available clinical presentations of reported male patients with 47,XXY/46,XX mosaicism. To improve the clinical management and quality of life in individuals with rare and cryptic genomic imbalances, the genetic diagnosis would need to be extended to atypical cases. |
| first_indexed | 2024-03-10T03:50:34Z |
| format | Article |
| id | doaj.art-b6ed69b066ce427cacd8c4126a04ffdd |
| institution | Directory Open Access Journal |
| issn | 2073-4425 |
| language | English |
| last_indexed | 2024-03-10T03:50:34Z |
| publishDate | 2022-04-01 |
| publisher | MDPI AG |
| record_format | Article |
| series | Genes |
| spelling | doaj.art-b6ed69b066ce427cacd8c4126a04ffdd2023-11-23T11:08:46ZengMDPI AGGenes2073-44252022-04-0113574410.3390/genes13050744An Adolescent Boy with Klinefelter Syndrome and 47,XXY/46,XX Mosaicism: Case Report and Review of LiteratureTinka Hovnik0Eva Zitnik1Magdalena Avbelj Stefanija2Sara Bertok3Katarina Sedej4Vesna Bancic Silva5Tadej Battelino6Urh Groselj7Clinical Institute for Special Laboratory Diagnostics, University Children’s Hospital, UMC, 1000 Ljubljana, SloveniaDepartment of Pediatric Endocrinology, Diabetes and Metabolic Diseases, University Children’s Hospital, UMC, 1000 Ljubljana, SloveniaDepartment of Pediatric Endocrinology, Diabetes and Metabolic Diseases, University Children’s Hospital, UMC, 1000 Ljubljana, SloveniaDepartment of Pediatric Endocrinology, Diabetes and Metabolic Diseases, University Children’s Hospital, UMC, 1000 Ljubljana, SloveniaDepartment of Pediatric Endocrinology, Diabetes and Metabolic Diseases, University Children’s Hospital, UMC, 1000 Ljubljana, SloveniaDepartment of Pediatric Endocrinology, Diabetes and Metabolic Diseases, University Children’s Hospital, UMC, 1000 Ljubljana, SloveniaDepartment of Pediatric Endocrinology, Diabetes and Metabolic Diseases, University Children’s Hospital, UMC, 1000 Ljubljana, SloveniaDepartment of Pediatric Endocrinology, Diabetes and Metabolic Diseases, University Children’s Hospital, UMC, 1000 Ljubljana, SloveniaKlinefelter syndrome is the most commonly reported sex chromosome abnormality. It is heavily underdiagnosed due to the substantial variability of clinical presentations but is generally characterized by small, firm testes, hypergonadotropic hypogonadism, and the absence of spermatogenesis. Most patients with Klinefelter syndrome have a 47,XXY genotype. If they present with mosaicism, two different cell lines are usually identified, an aneuploid 47,XXY cell line and a normal male 46,XY cell line. There are very few cases of 47,XXY mosaicism with the additional female cell line 46,XX described in the literature. We report a case of an adolescent with the male phenotype and a rare variant mosaic 47,XXY/46,XX karyotype who presented with painless bilateral gynaecomastia. 47,XXY and 46,XX mosaic cell lines were identified with GTG-banding and further characterized using fluorescent in situ hybridization. We summarized the available clinical presentations of reported male patients with 47,XXY/46,XX mosaicism. To improve the clinical management and quality of life in individuals with rare and cryptic genomic imbalances, the genetic diagnosis would need to be extended to atypical cases.https://www.mdpi.com/2073-4425/13/5/744Klinefelter syndromemosaicism47,XXY/46,XXreview |
| spellingShingle | Tinka Hovnik Eva Zitnik Magdalena Avbelj Stefanija Sara Bertok Katarina Sedej Vesna Bancic Silva Tadej Battelino Urh Groselj An Adolescent Boy with Klinefelter Syndrome and 47,XXY/46,XX Mosaicism: Case Report and Review of Literature Genes Klinefelter syndrome mosaicism 47,XXY/46,XX review |
| title | An Adolescent Boy with Klinefelter Syndrome and 47,XXY/46,XX Mosaicism: Case Report and Review of Literature |
| title_full | An Adolescent Boy with Klinefelter Syndrome and 47,XXY/46,XX Mosaicism: Case Report and Review of Literature |
| title_fullStr | An Adolescent Boy with Klinefelter Syndrome and 47,XXY/46,XX Mosaicism: Case Report and Review of Literature |
| title_full_unstemmed | An Adolescent Boy with Klinefelter Syndrome and 47,XXY/46,XX Mosaicism: Case Report and Review of Literature |
| title_short | An Adolescent Boy with Klinefelter Syndrome and 47,XXY/46,XX Mosaicism: Case Report and Review of Literature |
| title_sort | adolescent boy with klinefelter syndrome and 47 xxy 46 xx mosaicism case report and review of literature |
| topic | Klinefelter syndrome mosaicism 47,XXY/46,XX review |
| url | https://www.mdpi.com/2073-4425/13/5/744 |
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