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47,XXY (Klinefelter)

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Cardiometabolic-related Diagnoses in Youth With Klinefelter Syndrome

Article Title: Population-based Assessment of Cardiometabolic-related Diagnoses in Youth With Klinefelter Syndrome: A PEDSnet Study

Authors: Davis, Nokoff, Furniss, Pyle, Valentine, Fechner, Ikomi, Magnusen, Nahata, Vogiatzi, and Dempsey

Date of Publication: February 1, 2022

“Diabetes and cardiovascular diseases are common among men with Klinefelter syndrome (KS) and contribute to high morbidity and mortality.”

“This large, population-based cohort of youth with KS had a higher odds of most cardiometabolic-related diagnoses than matched controls.”

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2023-01-25T12:41:07-05:00Categories: 47,XXY (Klinefelter)|Tags: , , |

Supernumerary sex chromosome abnormalities – new developments and future trajectories

Article Title: Supernumerary sex chromosome abnormalities – new developments and future trajectories – A summary of the 2022 3rd International Workshop on Klinefelter syndrome, XYY and Trisomy X

Authors: Gravholt, Ferlin, Gromoll, Juul, Raznahan, Van Rijn, Rogol, Skakkebæk, Tartaglia, and Swaab

Date of Publication: January 4, 2023

“The 3rd International Workshop on Klinefelter Syndrome, Trisomy X, and 47,XYY syndrome was held in Leiden, the Netherlands, on September 12-14, 2022. Here, we review new data presented at the workshop and discuss scientific and clinical trajectories. We focus on shortcomings in knowledge and therefore point out future areas for research.”

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Early impact of X- and Y-chromosome variations on social communication and social emotional development in 1–2-year-old children

Article Title: Early impact of X- and Y-chromosome variations (XXX, XXY, XYY) on social communication and social emotional development in 1–2-year-old children

Authors: Bouw, Swaab, Tartaglia, Jansen, and Van Rijn

Date of Publication: February 18, 2022

“These findings suggest that SCT [sex chromosome trisomies] impact the maturation of the social brain already from an early age, and stress the importance of early monitoring and (preventive) support early social development in young children with SCT.”

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2022-12-02T13:45:58-05:00Categories: 47,XXX (trisomy x), 47,XXY (Klinefelter), 47,XYY|Tags: |

Delaying testicular sperm extraction in 47,XXY Klinefelter patients

Article Title: Delaying testicular sperm extraction in 47,XXY Klinefelter patients does not impair the sperm retrieval rate, and AMH levels are higher when TESE is positive

Authors: Renault, Labrune, D’Estaing, Cuzin, Lapoirie, Benchaib, Lornage, Soignon, De Souza, Dijoud, Fraison, Pral-Chatillon, Bordes, Sanlaville, Schluth-Bolard, Salle, Ecochard, Lejeune, and Plotton

Date of Publication: September 16, 2022

“Should testicular sperm extraction (TESE) in non-mosaic 47,XXY Klinefelter syndrome (KS) patients be performed soon after puberty or could it be delayed until adulthood?”

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2022-11-16T14:45:18-05:00Categories: 47,XXY (Klinefelter)|Tags: , |

Positive predictive value of noninvasive prenatal testing for sex chromosome abnormalities

Article Title: Positive predictive value of noninvasive prenatal testing for sex chromosome abnormalities

Authors: Guo, Cai, Lin, Xue, Huang, and Xu

Date of Publication: August 12, 2022

A clinic had 47,855 patients undergo NIPT (noninvasive prenatal testing). They found that the positive predictive value (PPV) for sex chromosome abnormalities was 36.9%. The PPV in patients aged 30–34 years was significantly higher than that in patients aged < 30 years.

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Klinefelter Syndrome: What should we tell prospective parents?

Article Title: Klinefelter Syndrome: What should we tell prospective parents?

Authors: White, Zacharin, Fawcett, and McGillivray

Date of Publication: October 12, 2022

“With increasing uptake of antenatal noninvasive prenatal testing (NIPT), a corresponding increase in identification of KS has been documented. Population-based longitudinal data from infancy to adulthood on these individuals is lacking, which impedes balanced antenatal genetic counselling and raises issues for prospective parents and clinicians alike.”

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2022-10-25T13:09:07-04:00Categories: 47,XXY (Klinefelter)|Tags: , |

Noninvasive prenatal screening (NIPS) results for participants of the eXtraordinarY babies study

Article Title: Noninvasive prenatal screening (NIPS) results for participants of the eXtraordinarY babies study: Screening, counseling, diagnosis, and discordance

Authors: Howell, Davis, Thompson, Brown, Tanda, Kowal, Alston, Ross, and Tartaglia

Date of Publication: September 6, 2022

“The majority (57%) of parents with a NIPS result positive for SCA defer diagnostic confirmation until birth; however, diagnostic results can be discordant with NIPS results, which may impact genetic counseling.”

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Rare Disorder of Sexual Differentiation with a Mosaic 46,XX/47,XXY in a Klinefelter Syndrome Individual

Article Title: Rare Disorder of Sexual Differentiation with a Mosaic 46,XX/47,XXY in a Klinefelter Syndrome Individual

Authors: Pattamshetty, Mantri, and Mohan

Date of Publication: April 12, 2020

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.

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2022-10-19T13:05:04-04:00Categories: 47,XXY (Klinefelter), Mosaicism|

Phenotypic differences in mosaic Klinefelter patients as compared with non-mosaic Klinefelter patients

Article Title: Phenotypic differences in mosaic Klinefelter patients as compared with non-mosaic Klinefelter patients

Authors: Samplaski, Lo, Grober, Millar, Dimitromanolakis, and Jarvi

Date of Publication: April 2014

“Klinefelter syndrome (KS) is the most common genetic cause of human male infertility. About 80% to 85% of cases are due to the congenital numerical chromosome aberration 47,XXY. Approximately 15% to 20% of KS men are mosaics, usually with two cell lines: 47,XXY/46,XY. The true prevalence of mosaic forms may be underestimated due to different chromosomal mosaicism levels in different tissues. In addition, popular belief holds that men with mosaic KS are more androgenized than their non-mosaic counterparts. These two factors, in addition to others, may result in underdetection of men with mosaic KS.”

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2022-10-19T13:00:26-04:00Categories: 47,XXY (Klinefelter), Mosaicism|

Association between domains of quality of life and patients with Klinefelter syndrome: a systematic review

Article Title: Association between domains of quality of life and patients with Klinefelter syndrome: a systematic review

Authors: Mehmet, Gillard, Jayasena, and Llahana

Date of Publication: May 31, 2022

“This is the first evidence synthesis of QoL in men with KS. Current evidence suggests that combined physical and psychological impairments affect men with KS who also experience impairments in relationships and independence in society. Further research is needed to identify factors that influence the QoL in men with KS.”

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2022-10-12T12:34:50-04:00Categories: 47,XXY (Klinefelter)|Tags: |
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