Rare XXY/XX mosaicism in a phenotypic male with Klinefelter syndrome: case report

Velissariou, Voula; Christopoulou, S.; Karadimas, Charalampos; Pihos, I.; Kanaka‐Gantenbein, Christina; Kapranos, Nikiforos; Kallipolitis, G.; Hatzaki, A.

doi:10.1016/j.ejmg.2005.09.001

Cited by 25 publications

(27 citation statements)

References 37 publications

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“…Such mosaics are present in about 10% of men with Klinefelter’s syndrome (16). One man, however, had 47,XXY/46,XX, a much more unusual mosaicism (17,18). This finding was confirmed by both FISH and karyotype.…”

Section: Resultsmentioning

confidence: 99%

Klinefelter’s syndrome (47,XXY) among men with systemic lupus erythematosus

et al. 2011

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Section: Resultsmentioning

confidence: 99%

Klinefelter’s syndrome (47,XXY) among men with systemic lupus erythematosus

et al. 2011

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“…Clinical phenotypes and related findings of the present case and 18 additional patients identified from the literature during 1969 to 2019 were analyzed, as shown in ►Table 1. [4][5][6][7][8][9][10][11][12][13][14][15][16][17][18][19][20] The age of presentation ranged from prenatal stage to 62 years. All but two patients were raised as male.…”

Section: Clinical Presentations Genital Phenotypes Gonadal Histologmentioning

confidence: 99%

“…Only the present case and one from the literature have described the origin of the extra X chromosome in XX/XXY individuals, and both cases confirmed paternal origin. 19…”

Section: Clinical Presentations Genital Phenotypes Gonadal Histologmentioning

confidence: 99%

Klinefelter Syndrome Mosaicism 46,XX/47,XXY: A New Case and Literature Review

et al. 2020

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Most cases of Klinefelter syndrome (KS) have 47,XXY karyotype. We reported the first case of 46,XX/47,XXY KS whose genital ambiguity was detected prenatally with postnatal confirmation of the mosaicism and ovotesticular disorder of sex development (OT-DSD). The paternal origin of the extra X chromosome was identified using trio cytogenomic single-nucleotide polymorphism array. Additional 18 cases were also reviewed. The clinical presentation of 46,XX/47,XXY is age-dependent with two age peaks, including ambiguous genitalia during infancy and gynecomastia with or without cyclical hematuria and left scrotal pain and mass in adolescence. The 46,XX is the predominant karyotype both in peripheral blood and gonadal tissue. The risk of germ cell tumor is very high throughout life in these individuals. Individuals with 46,XX/47,XXY mosaicism should be treated more as OT-DSD other than a simple mosaic KS. A multidisciplinary approach and long-term monitoring are necessary.

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“…Mosaicism 47,XXY/46,XX with clinical features suggestive of Klinefelter syndrome is very rare. Thus far, only about 10 cases have been described in the literature (Velissariou et al, 2006).…”

mentioning

confidence: 98%