Birth of twin males with normal karyotype after intracytoplasmic sperm injection with use of testicular spermatozoa from a nonmosaic patient with Klinefelter’s syndrome

Nodar, F.; Vincentiis, Sabrina De; Olmedo, S. Brugo; Papier, S.; Urrutia, Fernando; Acosta, Anı́bal A.

doi:10.1016/s0015-0282(99)00151-x

Cited by 65 publications

(25 citation statements)

References 7 publications

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“…However, in two recent studies of nonmosaic KS patients all meiotic spermatocytes were normally euploid and thus able to mature into haploid spermatozoa (25,103). Thus, at least 149 healthy live born babies without anomalies were conceived after TESE/ICSI from couples, including a 47,XXY father, have been reported worldwide (13,48,52,56,58,59,60,61,63,64,65,67,68,69,70,72,74,75,100,104,105,106,107,108).…”

Section: Outcome Of Tese/icsi In 47xxymentioning

confidence: 99%

Therapy of endocrine disease: Testicular function and fertility in men with Klinefelter syndrome: a review

Aksglæde

Juul

2013

European Journal of Endocrinology

175

114

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Klinefelter syndrome, 47,XXY (KS), is the most frequent sex chromosome aberration in males, affecting 1 in 660 newborn boys. The syndrome is characterized by testicular destruction with extensive fibrosis and hyalinization of the seminiferous tubules resulting in small testes, hypergonadotropic hypogonadism, and azoospermia in the majority of cases. Until recently, infertility was considered an untreatable condition in KS. However, with the development of new advanced assisted reproductive techniques such as testicular sperm extraction (TESE) combined with ICSI it seems that KS patients should no longer be labelled as infertile. Especially, microdissection (micro)-TESE has proved to be an advantageous procedure for the identification of testicular spermatozoa in KS. The aim of this review was to describe current knowledge on the testicular changes occurring in KS, the associated changes in reproductive hormones and spermatogenesis, and the existing possibilities of biological fatherhood in 47,XXY patients. European Journal of Endocrinology 168 R67-R76

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Section: Outcome Of Tese/icsi In 47xxymentioning

confidence: 99%

Therapy of endocrine disease: Testicular function and fertility in men with Klinefelter syndrome: a review

Aksglæde

Juul

2013

European Journal of Endocrinology

175

114

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“…Surgical sperm retrieval has revealed spermatozoa in up to half of patients with non-mosaic KS referred to assisted reproduction centres (Tournaye et al, 1997;Palermo et al, 1999;Friedler et al, 2001;Vernaeve et al, 2004). To date 54 normal children have been born from 122 men with KS by ICSI with testicular (48 children, 118 patients) or ejaculated spermatozoa (six children from four patients) Tournaye et al, 1996Tournaye et al, , 1997Bourne et al, 1997;Hinney et al, 1997;Palermo et al, 1998;Reubinoff et al, 1998;Nodar et al, 1999;Ron-El et al, 1999, 2000aKitamura et al, 2000;Levron et al, 2000;Cruger et al, 2001;Friedler et al, 2001;Greco et al, 2001;Poulakis et al, 2001;Rosenlund et al, 2002;Yamamoto et al, 2002;Kahraman et al, 2003;Staessen et al, 2003;Tachdjian et al, 2003;Ulug et al, 2003). Three cases of chromosomally abnormal embryos (47,XXY) resulting in abortion have been reported (Reubinoff et al, 1998;Ron-El et al, 2000b;Friedler et al, 2001), and other studies reported a high number of aneuploidy embryos discovered by preimplantation genetic diagnosis (Bielanska et al, 2000;Kahraman et al, 2003;Staessen et al, 2003).…”

Section: Klinefelter Syndromementioning

confidence: 99%

Chromosome abnormalities in sperm of individuals with constitutional sex chromosomal abnormalities

Ferlin¹,

Garolla²

2005

Cytogenet Genome Res

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The most common type of karyotype abnormality detected in infertile subjects is represented by Klinefelter’s syndrome, and the most frequent non-chromosomal alteration is represented by Y chromosome long arm microdeletions. Here we report our experience and a review of the literature on sperm sex chromosome aneuploidies in these two conditions. Non mosaic 47,XXY Klinefelter patients (12 subjects) show a significantly lower percentage of normal Y-bearing sperm and slightly higher percentage of normal X-bearing sperm. Consistent with the hypothesis that 47,XXY germ cells may undergo and complete meiosis, aneuploidy rate for XX- and XY-disomies is also increased with respect to controls, whereas the percentage of YY-disomies is normal. Aneuploidy rates in men with mosaic 47,XXY/46,XY (11 subjects) are lower than those observed in men with non-mosaic Klinefelter’s syndrome, and only the frequency of XY-disomic sperm is significantly higher with respect to controls. Although the great majority of children born by intracytoplasmic sperm injection from Klinefelter subjects are chromosomally normal, the risk of producing offspring with chromosome aneuploidies is significant. Men with Y chromosome microdeletions (14 subjects) showed a reduction of normal Y-bearing sperm, and an increase in nullisomic and XY-disomic sperm, suggesting an instability of the deleted Y chromosome causing its loss in germ cells, and meiotic alterations leading to XY non-disjunction. Intracytoplasmic injection of sperm from Y-deleted men will therefore transmit the deletion to male children, and therefore the spermatogenic impairment, but raises also concerns of generating 45,X and 47,XXY embryos.

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“…Several reports have described successful pregnancy outcomes in these patients using fresh testicular sperm obtained on the day of oocyte retrieval [2][3][4][5][6][7]. However, few reports in the literature exist in regard to using cryopreserved sperm for intracytoplasmic sperm injection (ICSI) [8][9][10][11].…”

Section: Introductionmentioning

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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Birth of twin males with normal karyotype after intracytoplasmic sperm injection with use of testicular spermatozoa from a nonmosaic patient with Klinefelter’s syndrome

Cited by 65 publications

References 7 publications

Therapy of endocrine disease: Testicular function and fertility in men with Klinefelter syndrome: a review

Therapy of endocrine disease: Testicular function and fertility in men with Klinefelter syndrome: a review

Chromosome abnormalities in sperm of individuals with constitutional sex chromosomal abnormalities

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

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