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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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Autores principales: Hovnik, Tinka, Zitnik, Eva, Avbelj Stefanija, Magdalena, Bertok, Sara, Sedej, Katarina, Bancic Silva, Vesna, Battelino, Tadej, Groselj, Urh
Formato: Online Artículo Texto
Lenguaje:English
Publicado: MDPI 2022
Materias:
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC9141365/
https://www.ncbi.nlm.nih.gov/pubmed/35627128
http://dx.doi.org/10.3390/genes13050744
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author Hovnik, Tinka
Zitnik, Eva
Avbelj Stefanija, Magdalena
Bertok, Sara
Sedej, Katarina
Bancic Silva, Vesna
Battelino, Tadej
Groselj, Urh
author_facet Hovnik, Tinka
Zitnik, Eva
Avbelj Stefanija, Magdalena
Bertok, Sara
Sedej, Katarina
Bancic Silva, Vesna
Battelino, Tadej
Groselj, Urh
author_sort Hovnik, Tinka
collection PubMed
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.
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spelling pubmed-91413652022-05-28 An Adolescent Boy with Klinefelter Syndrome and 47,XXY/46,XX Mosaicism: Case Report and Review of Literature Hovnik, Tinka Zitnik, Eva Avbelj Stefanija, Magdalena Bertok, Sara Sedej, Katarina Bancic Silva, Vesna Battelino, Tadej Groselj, Urh Genes (Basel) Case Report 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. MDPI 2022-04-23 /pmc/articles/PMC9141365/ /pubmed/35627128 http://dx.doi.org/10.3390/genes13050744 Text en © 2022 by the authors. https://creativecommons.org/licenses/by/4.0/Licensee MDPI, Basel, Switzerland. This article is an open access article distributed under the terms and conditions of the Creative Commons Attribution (CC BY) license (https://creativecommons.org/licenses/by/4.0/).
spellingShingle Case Report
Hovnik, Tinka
Zitnik, Eva
Avbelj Stefanija, Magdalena
Bertok, Sara
Sedej, Katarina
Bancic Silva, Vesna
Battelino, Tadej
Groselj, Urh
An Adolescent Boy with Klinefelter Syndrome and 47,XXY/46,XX Mosaicism: Case Report and Review of Literature
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 Case Report
url https://www.ncbi.nlm.nih.gov/pmc/articles/PMC9141365/
https://www.ncbi.nlm.nih.gov/pubmed/35627128
http://dx.doi.org/10.3390/genes13050744
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