A Study of Four Cases With Klinefelter's Syndrome, Showing Motile Spermatozoa in Their Ejaculates

Foss, G. L.; Lewis, Fiona

doi:10.1530/jrf.0.0250401

Cited by 39 publications

(15 citation statements)

References 6 publications

(7 reference statements)

Supporting

Mentioning

Contrasting

Order By: Relevance

“…Most chromosome abnormalities causing male infertility include one of the sex chromosomes, X and Y, whereby the karyotype 47,XXY associated with the Klinefelter syndrome is the largest homogenous group. Although Klinefelter patients are usually azoospermic, individuals with a low number of spermatozoa in their testicular tissue can be found frequently [9] and reports of Klinefelter´s who naturally fathered a child have been described in rare cases [10]. It is not yet known why Klinefelter patients are infertile, and why in about 20% of cases a mosaic karyotype, 46,XY/47,XXY is observed.…”

Section: Chromosome Aberrations Which Cause Male Infertilitymentioning

confidence: 99%

“…However, in most cases DNA probes which mark distinct chromosome regions are preferred because the sperm chromatin is highly condensed and not-overlapping FISH spots for the analysis of single chromosome aneuploidies are requested. Sex chromosomes and chromosomes 1,4,6,7,8,9,10,11,12,14,16,17,18,22 were analysed usually with FISH probes cloned from the chromosome specific alphoid repetitive sequence blocks in the centromeric regions of these chromosomes [38]. Chromosomes 13 and 21 are analysed with FISH probes generated from Bacterial-ArtificialChromosomes (BACs) cloned from specific chromosome regions (13q22 contig; 21q22.1 contig) [29].…”

Section: Fig (2)mentioning

confidence: 99%

“…An extensive FISH analysis on sperms of nine patients with severe oligoasthenoteratospermia (OAT syndrome) was performed by Pang et al [29] using FISH probes specific for 14 chromosomes (4,6,7,8,9,10,11,12,13,17,18,21, X, Y). They found a high increase of chromosomal disomies (frequency range: 0-5,4%) compared with fertile control samples (frequency range: 0.05-0.2%).…”

Section: Fig (2)mentioning

confidence: 99%

See 2 more Smart Citations

Molecular Genetic of Human Male Infertility: From Genes to New Therapeutic Perspectives

Vogt¹

2004

CPD

View full text Add to dashboard Cite

Genetic lesions causing human male infertility are manifold. Besides gross chromosomal aneuploidies and rearrangements, microdeletions and single gene defects can interfere with male fertility. Male fertility is not only dependent on genes controlling the male germ line but also on genes of the networks functional for male gonad development and male somatic development, respectively. It is popular to unravel these netweorks with mouse gene knock-out mutants displaying reproductive defects. However, substantial arguments can be given for more functional studies directly on the human genes, because multiple reproductive proteins evolve quickly most likely for adopting to the specific needs of the species class. Prominent examples are mutations of the FSHR gene causing different pathologies in mouse and human and the DAZ gene family not found in the mouse genome but in the human genome with an essential male fertility function. Therefore this review is focussed on a comprehensive overview of human genes known with mutations causing male infertility (AR; AZF gene families; CFTR, DM-1, DNAH gene family, FGFR1, FSHR, INSL3, KAL-1, LGR8-GREAT, LHR, POLG). Then some human genes are described well recognised as functional in spermatogenesis and male fertility although gene specific mutations causing infertility were not yet identified (CREM, CDY1, DAZL1, PHGPx, PRM-1, PRM-2). They are designated as "spermatogenesis phase marker" or "male fertility index" genes, because they are useful tools for diagnosing the patient´s´ spermatogenesis disruption phase and for predicting the presence and quality of his mature sperms. Current therapeutic protocols for human male infertility do usually not cure the specific gene defect but try to bypass it using Artificial Reproductive Technology (ART). Putative imprinting defects in the early embryo probably associated with the used ART protocol and an increase of chromosome abnormalities in the ART offspring now strongly asks for a significant improvement of this outcome requesting urgently more basic research on the genes functioning in the human male germ line and during early human embryogenesis.

show abstract

Section: Chromosome Aberrations Which Cause Male Infertilitymentioning

confidence: 99%

Section: Fig (2)mentioning

confidence: 99%

Section: Fig (2)mentioning

confidence: 99%

See 1 more Smart Citation

Molecular Genetic of Human Male Infertility: From Genes to New Therapeutic Perspectives

Vogt¹

2004

CPD

View full text Add to dashboard Cite

show abstract

“…1 In most cases with no evidence of mosaicism, spermatogenesis cannot be completed. However, several studies have reported patients with non-mosaic Klinefelter karyotype showing focal spermatogenesis and severe oligozoospermia 2,3 in whom fatherhood results following spontaneous pregnancies. 4,5 Recently, testicular spermatozoa have been recovered at high rates 6 and intracytoplasmic sperm injection (ICSI) has been used in such cases.…”

Section: Introductionmentioning

confidence: 99%

“…Several authors in the recent literature also recommend pre-implantation genetic diagnosis (PGD). 1,2 However, PGD raises a wide spectrum of ethical matters. It should not be performed without discussions with the parents and without their permission.…”

mentioning

confidence: 99%

Ejaculated spermatozoa in non‐mosaic Klinefelter’s syndrome

Okada

2000

Int J of Urology

View full text Add to dashboard Cite

Background: Non-mosaic Klinefelter patients are generally azoospermic and there is no therapy to improve the spermatogenesis. Some patients have a few spermatozoa in their ejaculates, which can be used for intracytoplasmic sperm injection (ICSI), but only a few cases resulting in a successful birth have been reported. Methods: Out of 52 non-mosaic 47,XXY Klinefelter patients, four cases having spermatozoa in their ejaculates were retrospectively studied. Results: Intracytoplasmic sperm injection was performed in three cases using their ejaculates and resulted in one chemical abortion and one death in utero (8 weeks). Using testicular sperm, one patient had a healthy baby with a normal karyotype. Conclusion: Some non-mosaic Klinefelter patients have ejaculated sperm that can result in a successful birth following ICSI. However, the birth rate is very low compared with the fertilization rate, suggesting increased risk of chromosomal abnormalities.

show abstract

A Study of mitosis, meiosis, histology, and scanning electron microscopic details of spermatogenesis in an infertile male with probable 46,XY/47,XXY germinal mosaicism

et al. 1981

View full text Add to dashboard Cite

A 29-year-old infertile man with mild eunuchoid body proportions and unilateral gynecomastia with a low sperm count had normal chromosomes in lymphocytes and skin fibroblasts. Serum testosterone, urinary ketosteroid, and follicle-stimulating hormone levels were normal, but serum prolactin, luteinizing hormone, and estrogen levels were above normal. Testicular biopsy showed hypocellularity, a pacuity of maturing sperm, and increased lipid content in early spermatogonia. Cytogenetic analysis of the testicular material showed probable 46,XY/47,XXY mosaicism in spermatogonial cells. None of the cells in diakinesis and metaphase I showed the extra-X as a univalent, and 50% of the cells in diakinesis were hypodiploid with intact XY bivalents. Further analysis of spermatogenesis revealed polymorphic dyads, triads, tetrads, and uncleaved meiotic products of first and second meiosis. Sex chromatin studies of testicular cells showed that 20% of the cells were X-chromatin positive. Scanning electron microscopic study of sperm revealed a wide range of polymorphisms, with some uncleaved meiotic products maturing into double-headed and double-tailed sperm or sperm with bulbous middle pieces or protrusions. A cytogenetic basis for the origin of these abnormalities is presented.

show abstract

A Study of Four Cases With Klinefelter's Syndrome, Showing Motile Spermatozoa in Their Ejaculates

Cited by 39 publications

References 6 publications

Molecular Genetic of Human Male Infertility: From Genes to New Therapeutic Perspectives

Molecular Genetic of Human Male Infertility: From Genes to New Therapeutic Perspectives

Ejaculated spermatozoa in non‐mosaic Klinefelter’s syndrome

A Study of mitosis, meiosis, histology, and scanning electron microscopic details of spermatogenesis in an infertile male with probable 46,XY/47,XXY germinal mosaicism

Contact Info

Product

Resources

About