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

Samplaski, Mary K.; Lo, Kirk; Grober, Ethan; Millar, Adam; Dimitromanolakis, Apostolos; Jarvi, Keith

doi:10.1016/j.fertnstert.2013.12.051

Cited by 73 publications

(51 citation statements)

References 26 publications

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“…31 While 80–90% of males with KS have a non-mosaic 47,XXY karyotype, a smaller percentage will have mosaicism that is often associated with a milder phenotype, or alternatively have more than one extra sex chromosome (48,XXYY, 48,XXXY, 49,XXXXY, 49,XXXYY), generally conferring a more severe phenotype. 32–35 …”

Section: Clinical Featuresmentioning

confidence: 99%

“…10,120 In select populations, the ejaculate may contain motile sperm in up to 10% of men with KS; therefore birth control is advised if fertility is not desired. 35,90,121 However, spontaneous pregnancies are rare and, without ART, males with KS are nearly always infertile. 95 With recent advances of reproductive medicine, sperm can be retrieved via surgical testicular sperm extraction (TESE) in around 50% of men seeking biologic fertility.…”

Section: Fertility and Reproductionmentioning

confidence: 99%

“…Various successful approaches for obtaining sperm have been described including first morning urine, (rarely successful) 79,149 ejaculation (up to 10%), 35,121 and TESE (around 50%). 95,114 Typically, the least invasive approaches are attempted first followed by surgical options.…”

Section: Fertility and Reproductionmentioning

confidence: 99%

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Testis Development and Fertility Potential in Boys with Klinefelter Syndrome

Davis

Rogol

Ross

2015

Endocrinology and Metabolism Clinics of North America

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Synopsis Klinefelter syndrome (KS) is the leading genetic cause of primary hypogonadism and infertility in men.1,2 The clinical phenotype has expanded beyond the original description of infertility, small testes and gynecomastia.3 Animal models, epidemiological studies, and clinical research of males with KS throughout the lifespan have allowed us to better characterize the variable phenotype of this condition. This review will provide an overview on what is known of the epidemiology, clinical features, and pathophysiology of KS, followed by a more focused discussion of testicular development and the clinical management of hypogonadism and fertility in men with KS.

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Section: Clinical Featuresmentioning

confidence: 99%

Section: Fertility and Reproductionmentioning

confidence: 99%

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Testis Development and Fertility Potential in Boys with Klinefelter Syndrome

Davis

Rogol

Ross

2015

Endocrinology and Metabolism Clinics of North America

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“…Approximately 10 to 15% of 47, XXY cases are mosaic . The presence of fetal mosaicism is influential on prenatal counseling because the research studies have suggested that mosaicism may impact outcome in variety of ways including fertility and neurodevelopmental outcome …”

Section: Limitations Of Noninvasive Prenatal Testingmentioning

confidence: 99%

“…54 The presence of fetal mosaicism is influential on prenatal counseling because the research studies have suggested that mosaicism may impact outcome in variety of ways including fertility and neurodevelopmental outcome. 55 Confirmatory testing must be completed after NIPT in order to determine if 47, XXY is present. Patients should undergo comprehensive counseling before cytogenetic counseling.…”

Section: Limitations Of Noninvasive Prenatal Testingmentioning

confidence: 99%

The benefits and limitations of cell-free DNA screening for 47, XXY (Klinefelter syndrome)

Samango‐Sprouse

Keen²,

Sadeghin³

et al. 2017

Prenat Diagn

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Objective The purpose of this paper is to provide an overview of the 47, XXY syndrome, which is the most commonly occurring X and Y chromosomal variation. This paper seeks to review what is currently known of noninvasive prenatal testing (NIPT) and 47, XXY and investigate potential risks and benefits of prenatal identification.Method A literature review of NIPT and 47, XXY was performed to identify limitations of current NIPT techniques.Results As NIPT becomes an increasingly more routine procedure, prenatal findings of 47, XXY may increase. Awareness of this disorder and appropriate genetic counseling is necessary.Conclusion X and Y chromosomal variations will be identified through this screening, and the benefits and limitations to this finding need to be thoughtfully considered.

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Prenatal Diagnosis of Sex Chromosome Abnormalities

Milunsky¹

2015

Genetic Disorders and the Fetus

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

Cited by 73 publications

References 26 publications

Testis Development and Fertility Potential in Boys with Klinefelter Syndrome

Testis Development and Fertility Potential in Boys with Klinefelter Syndrome

The benefits and limitations of cell-free DNA screening for 47, XXY (Klinefelter syndrome)

Prenatal Diagnosis of Sex Chromosome Abnormalities

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