Adult onset of declining spermatogenesis in a man with nonmosaic Klinefelter’s syndrome

Ichioka, Kentaro; Utsunomiya, Noriaki; Kohei, Naoki; Ueda, Nobufumi; Inoue, Koji; Terai, Akito

doi:10.1016/j.fertnstert.2005.10.069

Cited by 25 publications

(13 citation statements)

References 10 publications

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“…This is in accordance with the concept of a progressive degradation of the spermatogonia, and based on single case reports, declining spermatogenesis with ageing in Klinefelter men has been reported (9,10). In addition, one study found a positive predictive value of testicular volume, testosterone levels and response to hCG test for successful TESE (62), but this association was not confirmed in others (66,70,84).…”

Section: Predictive Factors Of Successful Tese In 47xxysupporting

confidence: 69%

“…Some may be a consequence of the hypogonadism typical for this syndrome, whereas others may be directly related to the chromosome abnormality. Although the vast majority of men with nonmosaic KS are azoospermic, motile sperms in the ejaculate and even spontaneous pregnancies resulting from KS fathers have been described, although such cases are rare (6,7,8,9,10). In general, Klinefelter mosaics (47,XXY/46,XY) are less severely affected and the chance of finding sperm in the ejaculate in these males is significantly higher than in nonmosaic cases.…”

Section: Introductionmentioning

confidence: 99%

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

Aksglæde

Juul

2013

European Journal of Endocrinology

168

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: Predictive Factors Of Successful Tese In 47xxysupporting

confidence: 69%

Section: Introductionmentioning

confidence: 99%

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

Aksglæde

Juul

2013

European Journal of Endocrinology

168

114

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“…Wikstrom et al (2004) found that only 50% of the boys with KS had germ cells in their testes, indicating a severely impaired fertility potential even in the peripubertal period. Therefore, a potential strategy for infertility in patients with KS is cryopreservation of ejaculated spermatozoa or testicular tissue early in the patients' adolescence (Sousa et al, 2002;Ichioka et al, 2006). Our present study partially supported that age may affect sperm recovery from KS patients.…”

Section: Discussionsupporting

confidence: 78%

Sperm retrieval from patients with nonmosaic Klinefelter’s syndrome by semen cytology examination

Jiang¹,

Dong²,

Yu³

et al. 2014

Genet. Mol. Res.

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ABSTRACT. Successful sperm retrieval from ejaculates of nonmosaic Klinefelter's syndrome (KS) patients by using semen cytology examination was described in this report. The clinical parameters of KS patients with sperm compared to patients without sperm were described. One hundred and fifty-one patients were proven to suffer from KS by chromosomal analysis using G-banding. Spermatozoa were obtained from 10 patients (10/151, 6.6%) using semen analysis. After semen cytology examination, 32 patients (32/151, 21.2%) were found to have sperm or germ cell in their ejaculate. The patients with successful sperm retrieval were significantly younger (27.1 ± 3.7 years) than the patients for whom sperm retrieval failed (28.9 ± 4.2 years). The mean serum testosterone level and the mean T/LH ratio of KS patients with successful sperm retrieval were significantly higher in men with sperm than in men without sperm (testosterone: 3.2 ± 2.1 ng/mL vs 2.7 ± 1.5 ng/mL; T/LH ratio: 0.2 ± 0.3 vs 0.1 ± 0.1). In conclusion, semen Sperm retrieval from patients with Klinefelter's syndrome cytology examination should be performed to identify sperm and germ cells in the ejaculate of KS patients if no sperm can be detected by traditional semen analysis. The serum testosterone level and T/LH ratio revealed an association between impaired Leydig cell function and impaired spermatogenesis in KS males. KS patients should receive earlier diagnosis and treatment.

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“…Preimplantation genetic diagnosis using FISH techniques is another option that has shown promise in selecting normal embryos from KS men. In the future, it can be visualized that early sperm retrieval and sperm banking would be highly recommended for men with KS [25].…”

Section: Klinefelter's Syndrome (Ks)mentioning

confidence: 99%

A multi-faceted approach to understanding male infertility: gene mutations, molecular defects and assisted reproductive techniques (ART)

Tahmasbpour

Balasubramanian

Agarwal

2014

J Assist Reprod Genet

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Background The assisted reproductive techniques aimed to assist infertile couples have their own offspring carry significant risks of passing on molecular defects to next generations. Results Novel breakthroughs in gene and protein interactions have been achieved in the field of male infertility using genome-wide proteomics and transcriptomics technologies. Conclusion Male Infertility is a complex and multifactorial disorder.Significance This review provides a comprehensive, up-todate evaluation of the multifactorial factors involved in male infertility. These factors need to be first assessed and understood before we can successfully treat male infertility.

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Adult onset of declining spermatogenesis in a man with nonmosaic Klinefelter’s syndrome

Cited by 25 publications

References 10 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

Sperm retrieval from patients with nonmosaic Klinefelter’s syndrome by semen cytology examination

A multi-faceted approach to understanding male infertility: gene mutations, molecular defects and assisted reproductive techniques (ART)

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