The genetic origin of Klinefelter syndrome and its effect on spermatogenesis

Maiburg, Merel C.; Repping, Sjoerd; Giltay, Jacques C.

doi:10.1016/j.fertnstert.2012.06.019

Cited by 79 publications

(63 citation statements)

References 67 publications

(99 reference statements)

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“…We observed a strong and statistically significant association of numerical chromosomal abnormalities with azoospermia (P = 0.0001). The association of gonosomal abnormalities, in particular Klinefelter syndrome and primary testicular failure is well known [28,29]. In studied group, 64 % of patients with azoospermia were presented with Klinefelter syndrome.…”

Section: Discussionmentioning

confidence: 87%

Chromosomal abnormalities in patients with oligozoospermia and non-obstructive azoospermia

Pylyp

Spinenko²,

Verhoglyad³

et al. 2013

J Assist Reprod Genet

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Purpose To assess the frequency and types of chromosomal abnormalities in 204 Ukrainian patients with non-obstructive azoospermia and oligozoospermia and 87 men with normozoospermia. Methods Cytogenetic studies were performed on peripheral blood lymphocyte samples of 164 men with oligozoospermia, 40 men with non-obstructive azoospermia and 87 men with normozoospermia attending infertility clinic. Results Chromosomal abnormalities were detected in 17 % of patients with sperm disorders: in 35 % of men with azoospermia and in 12.7 % of men with oligozoospermia. The frequency of chromosomal abnormalities in patients with sperm disorders was significantly higher, than in patients with normozoospermia (P=0.0001). An increase in the incidence of chromosomal abnormalities with the decrease of sperm count was observed. Chromosomal abnormalities were detected in 1.1 % of patients with normozoospermia, 6.5 % of patients with mild oligozoospermia (sperm count 5-15 ×10 6 /ml), 18.4 % of patients with severe oligozoospermia (sperm count <5 ×10 6 /ml) and 35 % of patients with azoospermia. A significant increase in the frequency of chromosomal abnormalities in patients with severe oligozoospermia was observed when compared to mild oligozoospermia (P=0.01). A statistically significant association (P= 0.02) of chromosomal abnormalities and sex chromosome abnormalities (P=0.0001) with azoospermia when compared to oligozoospermia was observed. Conclusions Our results highlight the importance of cytogenetic studies in patients with oligozoospermia (both mild and severe) and non-obstructive azoospermia. The presence of chromosomal abnormalities influences significantly the fertility treatment protocols, as well as provides a definite diagnosis to couples suffering from infertility.

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Section: Discussionmentioning

confidence: 87%

Chromosomal abnormalities in patients with oligozoospermia and non-obstructive azoospermia

Pylyp

Spinenko²,

Verhoglyad³

et al. 2013

J Assist Reprod Genet

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“…Investigations of the ejaculated or testicular spermatozoa in KS with the fluorescent in-situ hybridization technique have shown varying frequencies of normal spermatozoa ranging from 50.0 to 93.7% (60,91,92). Accordingly, it has been proposed that adults with KS have a substantially higher proportion of hyperhaploid spermatozoa (46,XY and 46,XX) than healthy males (93,94), giving these males a theoretically increased risk of fathering a child with 47,XXY or 47,XXX (for review see (95)). Furthermore, an increased frequency of autosomal aneuploidy 13, 18, and 21 in spermatozoa from KS has been proposed (52,93,96).…”

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

169

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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“…However, we did not detect any of them while screening KS biopsies (Table 2). If segregation of XXY occurs, one would expect an increase in both XY and XX disomy in the spermatozoa (with a 2:1 ratio if segregation occurs randomly), and that an excess of X-bearing euploidy in the post-meiotic cells would be observed [44]. We found an elevation of Xbearing euploid secondary spermatocytes and round spermatids (≤8 μm) together with a high rate of diploid 18/18 XX round cells.…”

Section: Discussionmentioning

confidence: 60%

Ploidy of spermatogenic cells of men with non-mosaic Klinefelter’s syndrome as measured by a computerized cell scanning system

Komsky-Elbaz

Raziel

Ben‐Ami

et al. 2015

J Assist Reprod Genet

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Purpose This study aims to characterize the origin of testicular post-meiotic cells in non-mosaic Klinefelter's syndrome (KS). Methods The study included testicular tissue specimens from 11 non-mosaic KS patients, with (6 positive) and without (5 negative) spermatozoa presence. The obtained testicular cells were affixed and stained for morphology followed by fluorescence in situ hybridization (FISH) for centromeric probes X, Y, and 18. We used a computerized automated cell scanning system that enables simultaneous viewing of morphology and FISH in the same cell. Results A total of 12,387 cells from the positive cases, 11,991 cells from the negative cases, and 1,711 cells from the controls were analyzed. The majority of spermatogonia were 47, XXY in both the positive and negative KS cases (88.9±4.76 % and 90.6±4.58 %) as were primary spermatocytes (76.8±8.14 % and 79.6±7.30 %). The respective rates of secondary spermatocytes and post-meiotic cells (round, elongating spermatids and sperm cells) were 1.1±1.39 % in the positive cases, 2.9±3.33 % in the negative cases, compared to 67.6±6.22 % in the controls (P<0.02). Pairing of both 18 and XY homologous chromosomes in 46,XY primary spermatocytes was 2.5 ±2.31 % and 3.4±2.39 %, respectively, compared to 19.8± 8.95 % in the control group (P<0.02) and in 47,XXY primary spermatocytes in 2.4±3.8 % in the positive group and 3.2± 2.26 % in the negative group. Conclusions This study presents data to indicate that the majority of primary spermatocytes in the testes of non-mosaic KS patients are 47,XXY and could possibly develop into postmeiotic cells.

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The genetic origin of Klinefelter syndrome and its effect on spermatogenesis

Cited by 79 publications

References 67 publications

Chromosomal abnormalities in patients with oligozoospermia and non-obstructive azoospermia

Chromosomal abnormalities in patients with oligozoospermia and non-obstructive azoospermia

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

Ploidy of spermatogenic cells of men with non-mosaic Klinefelter’s syndrome as measured by a computerized cell scanning system

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