Live Birth from Electively Cryopreserved Oocytes: A Feasible Option for Couples Opposed to Embryo Cryopreservation A Case Report.

Background: This case report describes a relatively novel indication for oocyte cryopreservation.

Case: A couple undergoing infertility treatment at our institution was opposed to embryo cryopreservation for religious reasons. After multiple unsuccessful infer- tility treatment cycles in- cluding ovulation induction combined with' artificial insemination as well as cycles of therapy with in vitro maturation, we were able to offer them fertilization of a limited number of oocytes followed by oocyte cryopreservation.

Live birth following in vitro maturation of oocytes retrieved from extracorporeal ovarian tissue aspiration and embryo cryopreservation for 5 years.

Objective: To report a live birth after in vitro maturation (IVM) of oocytes retrieved from extracorporeal ovarian tissue aspiration in the setting of fertility preservation.

Design: Observational study.

Setting: Academic center.

Analysis of the meiotic recombination gene REC8 for sequence variations in a population with severe male factor infertility.

Proper regulation of meiosis is essential for normal spermatogenesis and abnormalities may be associated with infertility, as shown in both animal knockout studies and studies identifying anomalies in key proteins, such as SCP3 and MLH1. Disruptions of meiosis are associated with azoospermia or severe oligozoospermia, and may increase the incidence of sperm aneuploidy in some men. Based on its function and animal studies, REC8, a key component of the meiotic cohesion complex, has been identified as a candidate male infertility gene.

Novel UBE2B-associated polymorphisms in an azoospermic/oligozoospermic population.

Aim: To assess whether abnormalities exist in the UBE2B gene in a population of infertile human males, and to establish biologic plausibility of any discovered mutations.

Methods: We carried out polymerase chain reaction (PCR) amplification and sequence analysis of the 5'-untranslated region and six exons of the UBE2B gene, including flanking intronic regions, in a group of fertile and infertile men. Following the identification of a putative promoter region that contained single or dual triplet deletions within a 10-CGG repeat island, we evaluated the binding affinity of these identified polymorphisms as compared to the wild-type sequence to transcription factor SP1 using a DNA-protein gel shift assay.

Sequence analysis of the X-linked USP26 gene in severe male factor infertility patients and fertile controls.

The 1090C>T,L364F variant of the ubiquitin protease 26 (USP26) gene does not appear to be related to male infertility. Mutations of the USP26 gene do not appear to be a common cause of idiopathic azoospermia or severe oligozoospermia.

Identification of novel polymorphisms in the nuclear protein genes and their relationship with human sperm protamine deficiency and severe male infertility.

Objective: To screen populations of fertile men, severely infertile men, and infertility patients with aberrations in the protamine-1-to-protamine-2 ratio (P1/P2) for clinically relevant alterations in the P1, P2, transition protein 1 (TP1), and transition protein 2 (TP2) genes.

Design: Prospective case-control study.

Setting: University-based infertility clinic.

Sequencing and haplotype analysis of the activator of CREM in the testis (ACT) gene in populations of fertile and infertile males.

cAMP-responsive element modulator (CREM) is a key transcription factor in the differentiation of round spermatids into mature spermatozoa. During spermiogenesis, CREM is regulated in part by activator of CREM in the testis (ACT), which activates CREM in a phosphorylation-independent fashion. We hypothesized that the ACT gene, which is expressed exclusively in the testis, could be involved in male factor infertility in patients with idiopathic-impaired spermatogenesis.

Identification of polymorphisms and balancing selection in the male infertility candidate gene, ornithine decarboxylase antizyme 3.

Background: The antizyme family is a group of small proteins that play a role in cell growth and division by regulating the biosynthesis of polyamines (putrescine, spermidine, spermine). Antizymes regulate polyamine levels primarily through binding ornithine decarboxylase (ODC), an enzyme key to polyamine production, and targeting ODC for destruction by the 26S proteosome. Ornithine decarboxylase antizyme 3 (OAZ3) is a testis-specific antizyme paralog and the only antizyme expressed in the mid to late stages of spermatogenesis.

Screening the SPO11 and EIF5A2 genes in a population of infertile men.

Populations of infertile and fertile men were screened for mutations in SPO11 and EIF5A2, two infertility candidate genes. Three heterozygous amino acid changes that might contribute to infertility were identified in the infertile group.