Assisted reproductive techniques in patients with Klinefelter syndrome: A critical review

Denschlag, Dominik; Tempfer, Clemens; Kunze, M; Wolff, Gerhard; Keck, Christoph

doi:10.1016/j.fertnstert.2003.09.085

Cited by 63 publications

(32 citation statements)

References 44 publications

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“…The ability to extract spermatozoa from the testes of patients with non-obstructive azoospermia followed by intracytoplasmic sperm injection offers an efficacious therapeutic approach for these patients to produce their own offspring. The possibility of using intracytoplasmic sperm injection with testicular spermatozoa has also been proposed in KFS patients (Denschlag et al, 2004). Thus, KFS patients may also harbor Y microdeletions, and screening for deletions may be imperative for diagnostic work-up, particularly in subjects considering assisted reproductive techniques.…”

Section: Discussionmentioning

confidence: 99%

Investigation of AZF microdeletions in patients with Klinefelter syndrome

Lx¹,

Dai²,

Xp³

et al. 2015

Genet. Mol. Res.

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ABSTRACT. We investigated azoospermia region microdeletions in male infertility patients with Klinefelter syndrome (KFS), as well as the association between azoospermia symptoms in patients with KFS and Y chromosome microdeletion polymorphisms. A total of 111 cases with male infertility confirmed to have KFS (47, XXY) and 94 fertile men were included in this study. Peripheral blood was drawn and DNA was extracted from these samples. Multiplex polymerase chain reaction was performed to screen the partial deletions of 25 sequence-tagged sites on the Y chromosome. In 111 cases with KFS, 1 case contained the AZFb+d+c deletion. The Gr/Gr deletion was identified in 12 KFS cases and 5 control cases. In addition, the b2/b3 deletion was identified in 13 KFS cases and 6 control cases. There were no significant differences in phenotype and genotype of the 2 partial AZFc deletions between patients and controls (P > 0.05). Our results suggest that patients with KFS may also have Y chromosome microdeletions to varying degrees 15141 AZF microdeletions in patients with Klinefelter syndrome ©FUNPEC-RP www.funpecrp.com.br Genetics and Molecular Research 14 (4): 15140-15147 (2015) and that the gr/gr deletion and b2/b3 deletion may not play a role in the susceptible genetic background of azoospermia in patients with KFS in the Sichuan population.

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Section: Discussionmentioning

confidence: 99%

Investigation of AZF microdeletions in patients with Klinefelter syndrome

Lx¹,

Dai²,

Xp³

et al. 2015

Genet. Mol. Res.

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“…5 Although these levels have fallen in recent years, termination rates still range from 30 to 60%. [32][33][34] Previous research indicates that whether a pregnancy is aborted is heavily dependent on the post-test counselling provided. If the counselling is provided by a genetics expert, the pregnancy is less likely to be terminated than if the diagnosis was provided by a general practitioner.…”

Section: Discussionmentioning

confidence: 99%

A qualitative exploration of mothers’ and fathers’ experiences of having a child with Klinefelter syndrome and the process of reaching this diagnosis

et al. 2013

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Klinefelter syndrome (KS) is a common genetic condition that is currently under-diagnosed. The phenotype is broad, with physical, medical and psychosocial features ranging from mild to severe. When a child is diagnosed with KS, the parents may spend months to years searching for a diagnosis. This study used a qualitative methods approach to explore parents' experiences of having a child with KS and receiving a diagnosis. Fifteen semistructured one-to-one in-depth interviews were conducted to explore their experiences and views. The interviews were then transcribed, coded and thematically analysed. The interviews revealed that parents had diverse experiences related to: the timing of the diagnosis of their child and reasons why their child was investigated for KS; the information that was provided at the time of diagnosis; the supports that were available and the concerns that parents held for the future of their child. The conclusions from this study were that parents' experiences of having a child with KS and receiving a diagnosis were complex and multifaceted. This experience was shaped by the timing of when the diagnosis was received, who provided the diagnosis, what information was provided from health-care professionals and that which parents may have encountered on the internet. The long-term experiences for parents were also impacted by the level of support they received. These findings have implications for the process by which KS is recognised by the health-care community and supports available for families.

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“…One investigative group [4] reported the conception of a 47, XXY fetus after ICSI of spermatozoa from a patient with nonmosaic Klinefelter syndrome. Another group [29] reviewed 21 reports and noted that a 47, XXY was one of 39 successful pregnancies fathered by non-mosaic Klinefelter patients. Another group [30] demonstrated that a significant drop in the percentage of normal embryos occurred in couples with Klinefelter syndrome (54.0%) compared to controls (77.2%).…”

Section: Discussionmentioning

confidence: 99%

Seven pregnancies and deliveries from non-mosaic Klinefelter syndrome patients using fresh and frozen testicular sperm

Kyono

Uto

Nakajo

et al. 2006

J Assist Reprod Genet

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Purpose: The aim of this study was to investigate the feasibility of using frozen-thawed testicular sperm as well as the timing of testicular sperm extraction (TESE) in patients with non-mosaic Klinefelter syndrome.Methods: Intracytoplasmic sperm injection (ICSI) was performed in six of 17 (35%) patients whose sperm was recovered by TESE. Multiple biopsies of both testes were performed on the day of oocyte retrieval in all but one of the six patients.Results: Seven pregnancies and deliveries were achieved in five couples, and one couple was unsuccessful. Five pregnancies were achieved using fresh motile sperm, and two were achieved using frozen-thawed sperm. Sperm cryopreservation was not possible in one of the five couples because of the small number of recovered sperm, and possible in four other couples for subsequent ICSI. One woman whose husband had TESE performed prior to ovarian stimulation did not become pregnant. This may be due to the attainment Conclusion: The outcome of ICSI using fresh or frozenthawed testicular sperm in patients with non-mosaic Klinefelter syndrome was identical; however, TESE should be performed on the day of oocyte retrieval until such time as a procedure with a higher sperm yield from TESE is available. Moreover, an improved recovery procedure after cryopreservation-thawing of a single spermatozoon must be developed.

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Assisted reproductive techniques in patients with Klinefelter syndrome: A critical review

Cited by 63 publications

References 44 publications

Investigation of AZF microdeletions in patients with Klinefelter syndrome

Investigation of AZF microdeletions in patients with Klinefelter syndrome

A qualitative exploration of mothers’ and fathers’ experiences of having a child with Klinefelter syndrome and the process of reaching this diagnosis

Seven pregnancies and deliveries from non-mosaic Klinefelter syndrome patients using fresh and frozen testicular sperm

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