Improving preimplantation genetic diagnosis (PGD) reliability by selection of sperm donor with the most informative haplotype.

Background: The study is aimed to describe a novel strategy that increases the accuracy and reliability of PGD in patients using sperm donation by pre-selecting the donor whose haplotype does not overlap the carrier's one.

Methods: A panel of 4-9 informative polymorphic markers, flanking the mutation in carriers of autosomal dominant/X-linked disorders, was tested in DNA of sperm donors before PGD. Whenever the lengths of donors' repeats overlapped those of the women, additional donors' DNA samples were analyzed.

A familial study of azoospermic men identifies three novel causative mutations in three new human azoospermia genes.

Purpose: Up to 1% of all men experience azoospermia, a condition of complete absence of sperm in the semen. The mechanisms and genes involved in spermatogenesis are mainly studied in model organisms, and their relevance to humans is unclear because human genetic studies are very scarce. Our objective was to uncover novel human mutations and genes causing azoospermia due to testicular meiotic maturation arrest.

Distinctive pattern of expression of spermatogenic molecular markers in testes of azoospermic men with non-mosaic Klinefelter syndrome.

Purpose: Mature sperm cells can be found in testicular specimens extracted from azoospermic men with non-mosaic Klinefelter syndrome (KS). The present study evaluates the expression of various known molecular markers of spermatogenesis in a population of men with KS and assesses the ability of those markers to predict spermatogenesis.

Methods: Two groups of men with non-obstructive azoospermia who underwent testicular sperm-retrieval procedures were included in the study: 31 had non-mosaic KS (KS group) and 91 had normal karyotype (NK group).

New insights into the role of the Brdt protein in the regulation of development and spermatogenesis in the mouse.

The bromodomain testis-specific (BRDT) protein belongs to the bromodomain extra-terminal (BET) family of proteins. It serves as a transcriptional regulator of gene expression during spermatogenesis, and is an essential factor for the normal spermatogenesis process. In this study, we characterized mice of several age groups who lacked the Brdt gene.

Thawed human sperm quality is influenced by the volume of the cryopreserved specimen.

Objective: To test the effect of sperm specimen volume in the freezing-thawing process on specimen quality.

Design: Experimental prospective study.

Setting: Tertiary academic medical center.

Preservation of sperm of cancer patients: extent of use and pregnancy outcome in a tertiary infertility center.

Sperm cryopreservation is the best modality to ensure future fertility for males diagnosed with cancer. The extent to which cryopreserved sperm is actually used for impregnation, the fertility treatment options that are available and the success rates of these treatments have not been investigated in depth. The medical records of 682 patients who cryopreserved sperm cells due to cancer treatment were analyzed.

Genetic and physiological study of morphologically abnormal human zona pellucida.

Objective: To investigate genetic, molecular and functional aspects of human zona pellucida (ZP) in oocytes with an abnormal appearance.

Study Design: The study included three women with unexplained infertility whose oocytes had an abnormal ZP appearance and the mother and fertile sister of one of them. The coding exons and their flanking intron regions of the four ZP genes and the regulatory element for the ZP3 gene were sequenced.

Screening for partial AZFa microdeletions in the Y chromosome of infertile men: is it of clinical relevance?

Objective: To evaluate the frequency of complete and partial AZFa Y-chromosome microdeletions among infertile Israeli men. To review the published frequencies and histologic findings of AZFa deletions.

Design: Retrospective study.

Freezability and semen parameters in candidates of sperm bank donors: 1992-2010.

There has been considerable concern worldwide about possible semen quality deterioration over the last 2 decades. The aim of this study was to evaluate freezability and semen quality of healthy young males during the years 1992-2010. A total of 1211 young (20-32 years old) candidates for sperm bank donation were recruited into the study with no exclusion criteria.

Expression of BET genes in testis of men with different spermatogenic impairments.

Objective: To characterize the BET gene expression in human testis with spermatogenetic impairments; to examine BRDT protein expression in testis and semen.

Design: Prospective study.

Setting: Fertility clinic.

CDY1 and BOULE transcripts assessed in the same biopsy as predictive markers for successful testicular sperm retrieval.

Objective: To evaluate the molecular markers CDY1 and BOULE in the same testicular biopsy for predicting success of sperm retrieval in azoospermic men.

Design: Prospective study.

Setting: University-affiliated medical center.

The likelihood of finding mature sperm cells in men with AZFb or AZFb-c deletions: six new cases and a review of the literature (1994-2010).

Objective: To reassess the predictive value of detecting sperm cells in men with AZFb or AZFb-c deletions.

Design: Retrospective analysis of previously reported men with AZFb or AZFb-c deletions and the addition of six new cases.

Setting: Fertility institution.

Virtual azoospermia and cryptozoospermia--fresh/frozen testicular or ejaculate sperm for better IVF outcome?

Men diagnosed as having azoospermia occasionally have a few mature sperm cells in other ejaculates. Other men may have constant, yet very low quality and quantity of sperm cells in their ejaculates, resulting in poor intracytoplasmic sperm injection (ICSI) outcome. It has not been conclusively established which source of sperm cells is preferable for ICSI when both ejaculate and testicular (fresh or frozen) sperm cells are available.

Long-term cryostorage of sperm in a human sperm bank does not damage progressive motility concentration.

Background: The use of quarantined cryopreserved semen is mandatory in donor insemination programs. Whether sperm cells can survive and retain their ability to fertilize after long-term storage remains a controversial issue. The objective of this study was to determine the effect of the duration of cryostorage in liquid nitrogen on the sperm cells' progressive motility concentration (PMC) in a large study group.

Assessing the predictive value of hyaluronan binding ability for the freezability potential of human sperm.

Objective: To evaluate the predictive value of a sperm maturation test using the hyaluronan-binding assay (HBA) for freezability potential; and to determine the effect of freezing-thawing on HBA results.

Design: Prospective study.

Setting: Andrology laboratory at a teaching hospital.

Histone H4 acetylation and AZFc involvement in germ cells of specimens of impaired spermatogenesis.

Objective: To measure histone-H4 acetylation and involvement of the AZFc region in testicular mixed atrophy.

Design: Prospective study.

Setting: University-affiliated medical center.

Effect of long-term storage on deoxyribonucleic acid damage and motility of sperm bank donor specimens.

The percentage of sperm DNA damage in samples from sperm bank donors was not significantly different (P=.17), whereas the percentage of motile cells was lower (P=.009) after long-term (9-13 years) compared with short-term (1-5 years) storage.

Deoxyribonucleic acid-damaged sperm in cryopreserved-thawed specimens from cancer patients and healthy men.

A similarity was found between the percentage of thawed, DNA-damaged spermatozoa in cancer patients and that in candidates to become sperm bank donors who had low sperm cryofreezability. Both groups were significantly different from the sperm bank donor group. It is suggested that the higher rate of DNA fragmentation in sperm from cancer patients compared with sperm bank donors is apparently a result of selecting donors by the level of sperm cryofreezability (i.

Role of poly(ADP-ribosyl)ation during human spermatogenesis.

Objective: Genomic stability of cells is known to be linked to their poly(ADP-ribosyl)ation capacity. We aimed to demonstrate, for the first time, the patterns of poly(ADP-ribosyl)ation during human spermatogenesis.

Design: Retrospective case-control study.

Is a genetic defect in Fkbp6 a common cause of azoospermia in humans?

FK506-binding protein 6 (Fkbp6) is a member of a gene family containing a prolyl isomerase/FK506-binding domain and tetratricopeptide protein-protein interaction domains. Recently, the targeted inactivation of Fkbp6 in mice has been observed to result in aspermic males and the absence of normal pachytene spermatocytes. The loss of Fkbp6 results in abnormal pairing and a misalignment of the homologous chromosomes, and in non-homologous partner switches and autosynapsis of the X chromosome cores in meiotic spermatocytes.

Use of sex chromosome bivalent pairing in spermatocytes of nonobstructive azoospermic men for the prediction of successful sperm retrieval.

Objective: To find the most informative method of XY bivalent detection for spermatozoa presence in testicular tissue of nonobstructive azoospermic men.

Design: Prospective study.

Setting: Institute for the Study of Fertility, affiliated with a university medical faculty.

Polymorphic alleles of the human MEI1 gene are associated with human azoospermia by meiotic arrest.

Genetic mechanisms are implicated as a cause of some male infertility, yet are poorly understood. Mouse meiotic mutant mei1 (meiosis defective 1) was isolated by a screening of infertile mice. Male mei1 mice have azoospermia due to meiotic arrest, and the mouse Mei1 gene is responsible for the mei1 phenotype.

Comparison of efficacy of two techniques for testicular sperm retrieval in nonobstructive azoospermia: multifocal testicular sperm extraction versus multifocal testicular sperm aspiration.

To compare the efficacy of 2 sperm-retrieval procedures, testicular sperm extraction (TESE) and testicular sperm aspiration (TESA), during the same procedure using the same subjects as their own controls. The presence of mature testicular sperm cells and motility were evaluated in 87 men with nonobstructive azoospermia (NOA) by means of multifocal TESE and multifocal TESA, which were performed during the same procedure using the same subjects as their own controls. Sperm cells were recovered by TESE in 54 cases, but by TESA in only 36 cases.

Severe hypospermatogenesis in cases of nonobstructive azoospermia: should we use fresh or frozen testicular spermatozoa?

The aim of this comparative clinical study was to examine whether the fertilizing potential of frozen-thawed testicular sperm in the most severe cases of hypospermatogenesis is reduced compared with fresh testicular sperm. The results could determine the necessity of using fresh testicular sperm cells, which mandates involving the spouse by performing simultaneous in vitro fertilization intracytoplasmic sperm injection (IVF-ICSI) treatment in this subgroup of nonobstructive azoospermia (NOA) patients. We studied 13 couples in which the husband was diagnosed as having NOA and few motile testicular sperm cells or only immotile testicular sperm cells were isolated by testicular sperm extraction (TESE).

Differentiating between primary and secondary Sertoli-cell-only syndrome by histologic and hormonal parameters.

The contribution of histologic differentiation between primary and secondary Sertoli-cell-only (SCO) syndrome in azoospermic men was evaluated. No correlation was found between the presence of sperm cells in the testis and the histologic findings or inhibin B or FSH levels, suggesting a low prognostic value for this differentiation.