Fifty-eight patients with hematological malignancies were referred for the storage of ovarian tissue for fertility preservation. Investigation included preoperative imaging and histological evaluation of fresh ovarian tissue. After thawing markers to detect minimal residual disease (MRD) were used and compared with patient's disease used as positive control (five patients).

Preoperative imaging detected disease in the ovaries (two patients). Conventional histology post-tissue harvesting did not disclose malignant cells (56 patients). MRD results post-thawing were negative in Hodgkin's disease (CD30 immunohistochemical staining), in T- and B-cell lymphoma (PCR for T-cell receptor and Ig clones, respectively) and in two chronic myelogenous leukemia patients (RT–PCR for BCR–ABL gene expression). However, highly sensitive real-time RT–PCR was positive in one CML patient and, this alarming result avoided tissue transplantation.

Preoperative imaging prevented operations and storage of tissue with cancer. Evaluation of stored ovarian tissue for MRD using sensitive markers is essential to increase safety and to prevent reimplantation of tissue with malignant cells.

Sperm samples from 89 healthy, non-smoking men from a non-clinical setting were analysed for aneuploidy using fluorescent in situ hybridization with probes for chromosomes X, Y and 21. Daily total intake (diet and supplements) for zinc, folate, vitamin C, vitamin E and β-carotene was derived from a food frequency questionnaire. Potential confounders were obtained from a self-administered questionnaire.

After adjusting for covariates, men with high folate intake (>75th percentile) had lower frequencies of sperm with disomies X, 21, sex nullisomy, and a lower aggregate measure of sperm aneuploidy (P ≤ 0.04) compared with men with lower intake. In adjusted continuous analyses, total folate intake was inversely associated with aggregate sperm aneuploidy (–3.6% change/100 µg folate; 95% CI: –6.3, –0. 8) and results were similar for disomies X, 21 and sex nullisomy. No consistent associations were found between antioxidant or zinc intakes and sperm aneuploidy.

Men with high folate intake had lower overall frequencies of several types of aneuploid sperm.

Spermatozoa were washed with Ham's F-10 media containing the antioxidants, ethylenediaminetetraacetic acid (EDTA) and catalase, at various concentrations, and then the ROS levels in sperm suspensions, and the forward motility, acrosome reaction, DNA integrity and lipid peroxidation of the spermatozoa were assessed.

The ROS levels were significantly lower in sperm suspensions washed with the antioxidants (196~312 rlu; relative light units) than in control sperm (604 rlu, P < 0.05). The addition of 10 µM EDTA to the sperm preparation medium significantly improved the motility of the spermatozoa compared with the control group, the groups containing EDTA at other concentrations and the groups containing catalase. Catalase significantly increased the acrosome reaction rate of the spermatozoa. Both EDTA and catalase significantly decreased the DNA fragmentation rate of the spermatozoa. However, the antioxidants did not reduce lipid peroxidation.

Supplementing sperm preparation medium with EDTA or catalase significantly improved the overall functional parameters of the spermatozoa by reducing the ROS levels.

A total of 20 men with never treated prepubertal-onset HH received i.m. hCG to normalize testosterone (T) and induce puberty. Afterwards, 11 of them, requiring fertility, were treated with HCG plus recombinant FSH (rFSH) (75 IU) twice a week, whereas 9 continued to receive hCG alone for 12 months. Before and during therapy, serum AMH, inhibin B and T levels were assessed. Semen samples were also collected during therapy for sperm count and seminal AMH assay.

HCG alone decreased basal high serum AMH and stimulated T and inhibin B levels. rFSH plus hCG increased seminal AMH levels, which were consequently significantly higher than with hCG alone, and positively correlated to sperm densities and testicular volumes at 3 and 12 months (P < 0.001).

Our data demonstrate that rFSH, added to hCG, stimulates seminal AMH and spermatogenesis in HH. Thus, seminal AMH levels are under T and FSH control and are closely related to progression of spermatogenesis. Our results also suggest that an early seminal AMH increase may be a marker of good future response to gonadotropin therapy in HH.

DNA fragmentation was evaluated by flow cytometry in semen of 75 subjects both by terminal deoxynucleotidyl transferase-mediated fluorescein-dUTP nick end labeling (TUNEL, traditional method) and by double staining with TUNEL and propidium iodide (PI, new method).

The use of the new method revealed that TUNEL underestimates sperm DNA fragmentation in flow cytometry and showed two sperm populations stained with low (PI^dim) and high (PI^br) avidity for PI. The PI^dim population is entirely composed of DNA fragmented sperm and its incidence shows highly significant negative correlations with morphology, motility, sperm count and concentration (respectively, r = –0.51, –0.52, –0.46 and –0.32, n = 75). DNA fragmentation in the PI^br sperm population is independent from semen quality.

The correlations between sperm DNA breakage and semen quality previously reported are mainly driven by the occurrence of the PI^dim population. DNA fragmented sperm in this population are more likely to have poorer morphology, reduced motility and thus a reduced chance to fertilize an oocyte than DNA damaged sperm in PI^br population. Distinguishing between the two types of sperm DNA fragmentation appears to be important in clinical investigations.

DNA damage was assessed with the sperm chromatin structure assay (SCSA), terminal deoxynucleotidyl transferase-mediated dUTP nick end labeling (TUNEL) and comet assays; reactive thiols (SH) and DNA compaction were determined with the monobromobimane (mBBr) and chromomycin A3 (CMA3) assays, respectively.

Both testicular cancer (37%) and Hodgkin's lymphoma (81%) patients had normospermic samples with increased DNA damage, compared with controls. Cancer patients also had higher reactive thiols and CMA3 staining, indicating low DNA compaction.

Sperm DNA integrity and compaction were affected in testicular cancer and Hodgkin's lymphoma patients prior to chemotherapy. Although SCSA, TUNEL and comet assays all detected DNA damage, the latter was optimal for use in cancer patients. A combination of the comet assay with tests that evaluate sperm DNA compaction, such as flow cytometry-based CMA3 and mBBr assays, is a reliable strategy to characterize sperm chromatin quality in cancer patients at the time of sperm banking.

In our study with the samples from 79 patients with, and 37 patients without, endometriosis, we found that endometriosis cell lines and short-term cultures of endometrium from women with endometriosis expressed L1CAM at the mRNA and protein level. Quantitative RT-PCR analysis showed that L1CAM was expressed at significantly higher level in the epithelial compartment from patients with endometriosis compared with healthy controls (P = 0.0126). By immunohistochemical staining, 15 of 31 ovarian endometriotic lesions (48%) were shown to have L1CAM-positive staining. Of these 15 L1CAM-positive samples, 13 were atypical endometriotic lesions. Soluble L1 present in the conditioned medium of epithelial endometrium cultures from women with endometriosis was able to stimulate neurite outgrowth as measured in a chicken ganglion assay.

We propose that L1CAM could promote endometriosis development by increasing enervation and aggravation. L1CAM expression is higher in atypical endometriosis compared with normal endometriosis.

Ten patients with laparoscopically proven endometriosis (minimal/mild n = 5 and moderate/severe n = 5) and six controls, underwent endometrial biopsy in the late secretory phase (Day 23 onwards). Microarray interrogation of eutopic endometrial gene expression was performed.

Microarray data were obtained for all control samples and eight samples from the endometriosis patients (n = 4 minimal/mild, n = 4 moderate/severe disease). Eight genes were identified as up-regulated and one gene was down-regulated in all endometriotic samples (more than 1.75-fold, P < 0.01). Real-time PCR analysis of protocadherin-17 (PCDH17), protein tyrosine phosphatase, receptor type, R (PTPRR) and interleukin-6 signal transducer (IL6ST) expression validated the microarray findings.

Expression of very few transcripts differs, in late secretory eutopic endometrium, between controls and patients with endometriosis. The median fold changes of these genes are small. No transcripts were identified that could discriminate between minimal/mild and moderate/severe endometriosis. Therefore, interrogation of the late secretory endometrial transcriptome is not likely to form the basis of a minimally invasive diagnostic test for endometriosis.

This prospective study included 90 women, with suspect rectovaginal endometriosis, who underwent operative laparoscopy. TVS and RWC-TVS were independently performed by different investigators. RWC-TVS was performed by injecting saline solution into the rectal lumen under ultrasonographic control through a 6-mm catheter. Presence of rectovaginal nodules, presence and degree of rectal infiltration, and the largest diameter of the bowel nodules were evaluated. Ultrasonographic results were compared to surgical and histological findings.

Although RWC-TVS had higher accuracy than TVS in diagnosing rectovaginal endometriosis, the difference between the two techniques was not statistically significant. RWC-TVS was significantly more accurate than TVS in determining the presence of endometriotic infiltration reaching at least the muscular layer of the rectal wall. The sensitivity of RWC-TVS in identifying rectal lesions was 97%, the specificity 100%, the positive predictive value 100% and the negative predictive value 91.3%. RWC-TVS caused a higher intensity of pain than TVS.

RWC-TVS determines the presence of rectovaginal nodules infiltrating the rectal muscularis propria more accurately than TVS; RWC-TVS could be used when TVS cannot exclude the presence of rectal infiltration.

We demonstrate here for the first time that differential expression of aldehyde dehydrogenase 1 (ALDH1) between fibroids and myometrium is maintained in cell culture (without endothelial cells), and that this gene is differentially regulated by retinoids in myometrial compared with fibroid cells. RA and retinol also regulate expression of ADH1, cellular retinol binding protein 1 and cellular RA binding protein 2 in fibroid and myometrial cells. We show that many of the RA pathway genes tested maintain expression levels and differences in vitro. We also identify nine genes that are differentially expressed between myometrium and fibroids and maintain these differences and expression levels in cultured cells isolated from the same tissues. These genes can be used as markers to distinguish myometrial and fibroid cells in culture.

Based on these findings, we propose that the RA pathway has an important and possible causative role in fibroid growth, as evidenced by the large number of genes with significantly altered expression in uterine fibroids that can be regulated by RA.

All patients who required uterine devascularization, i.e. bilateral uterine artery ligation (Group A), and either bilateral utero-ovarian ligament (Group B) or suspensory ligament of ovary ligation (Group C) in cases of persistent haemorrhage, for PPH with no concomitant procedures from December 1997 to March 2004 were included. Data were retrieved from medical files and telephone interviews.

Data were available for 32 of the 40 (80%) patients included in the study. All patients but 4 had a return to normal menses. Postpartum amenorrhea was secondary to ovarian failure in two cases, and synechiae or necrotic uterus each in one case. These four patients belonged to Group C, whereas no adverse events were observed in groups A and B. Thirteen patients had 16 pregnancies with 13 term deliveries, 1 ectopic pregnancy and 2 abortions. Clinical course of the 13 complete gestations were uneventful but PPH recurred in 4 (31%) due to placenta accreta in three cases.

Uterine artery ligation, whether or not associated with utero-ovarian ligament ligation, for PPH does not appear to compromise the patients’ subsequent fertility and obstetrical outcome.

Women (n = 71) who were undergoing laparoscopic (67.6%) or laparotomic myomectomy were randomized (2:1) to Hydrogel (sprayed over surgically treated areas prior to wound closure, n = 48) or to control (standard care, n = 23). Patients (38 Hydrogel, 20 control) returned 8–10 weeks later for a second look. Adhesions were graded using a modified American Fertility Society (mAFS) scoring method. The primary efficacy measure was the posterior uterus mAFS score.

For Hydrogel and control patients, respectively, mean ± SD mAFS scores were 0.5 ± 1.4 and 0.0 ± 0.0 at baseline, and 1.1 ± 1.9 and 2.6 ± 2.2 at the second look. Similarly, mean changes from baseline were 0.8 ± 2.0 and 2.6 ± 2.2 (P = 0.01); 95% confidence intervals for these mean changes were (0.16–1.44) and (1.64–3.56). Adverse events were reported by 9.6 and 17.4% of Hydrogel and control patients, respectively. No intra-abdominal infections or post-operative site infections were reported.

This 71-patient study provides the first clinical evidence of the safety and efficacy of Hydrogel for the reduction of adhesions following myomectomy.

The ClinicalTrials.gov Identifier is NCT00562471.

An RCT in a large assisted conception unit. A pilot study and power calculation suggested that at least 2000 embryo transfers were required to demonstrate a difference of 5%, for a test with 80% power and Type 1 error 0.05. Randomization, data entry and analysis were arranged independently. Randomization was stratified for age and fresh/frozen embryo transfer. Analysis was by intention to treat.

There was no difference in clinical pregnancy or live birth rates between the two groups. The clinical pregnancy rate for ultrasound-guided embryo transfer was 22% and for non-ultrasound-guided embryo transfer was 23% (odds ratio: 0.96; 95% confidence interval: 0.79–1.18).

We set out to determine whether ultrasound-guided embryo transfer improved clinical pregnancy rates and live birth rates in assisted conception. We used an appropriately powered RCT design. We did not demonstrate a difference. This outcome is at odds with the UKs National Institute of Clinical Excellence recommendations for fertility treatment (Fertility Assessment and Treatment for People with Fertility Problems. London, UK: RCOG Press, 2004, 112.) which used a meta-analysis of four smaller trials (range 362–800 patients, totalling 2051 embryo transfers) to conclude that ultrasound should be offered. We suggest that the current Cochrane review should be updated with data from our trial and recommend that consideration is given to accounting for heterogeneity between the included trials.

We conducted a multi-centre retrospective analysis of karyotype results obtained by chorionic villus sampling (CVS), performed due to advanced maternal age (≥36 years at 18 weeks of gestation), in the Netherlands between 1995 and 2005.

From a total of 322 246 pregnancies, 20 885 CVS results were analysed: 235 in the IVF/ICSI group and 20 650 in the control group. The mean age of women in both groups was 38.4 years (mean difference –0.08, 95% CI –0.35 to 0.18). Data relating to the fetal karyotype were missing in 143 cases in the control group. When taking into account missing data, the incidence of CPM was lower in the IVF–ICSI group than in the control group, 1.3% versus 2.2% (odds ratio 0.59, 95% CI 0.19–1.85), whereas the incidence of fetal chromosomal anomalies was increased 4.3% versus 2.4% (odds ratio 1.81, 95% CI 0.95–3.42). Neither differences were statistically significant.

The incidence of CPM is not increased in IVF/ICSI pregnancies compared with spontaneous conceptions. CPM probably does not account for the adverse perinatal outcomes following IVF/ICSI.

Between October 1999 and June 2003, consenting women of age ≤39 years with an ultrasound diagnosis of hydrosalpinx were randomized before oocyte collection to transvaginal aspiration of hydrosalpinx under antibiotics cover or no aspiration. Third-party randomization was performed using a computer algorithm, and allocation concealment was achieved with opaque sealed envelopes. Outcomes were biochemical and clinical pregnancies, implantation, spontaneous abortion, ectopic pregnancy and pelvic infection rates. Analysis was by intention to treat.

Sixty-six women were recruited to the trial, 32 to the aspiration group and 34 to the no-aspiration group. Aspiration resulted in a greater biochemical pregnancy rate [14/32 (43.8%) versus 7/34 (20.6%), relative risk (RR) = 2.1 (1.02, 4.6), P = 0.04]. Clinical pregnancy rates for aspiration versus control groups were 31.3% (10/32) and 17.6% (6/34), respectively [RR = 1.8 (0.8, 4.3), P = 0.20]. There were no changes in implantation rate or spontaneous abortion risk with aspiration and no differences between the groups in infection or ectopic pregnancy rates.

In women who are identified to have hydrosalpinges during controlled ovarian stimulation during IVF, aspiration of hydrosalpinges during oocyte collection may be effective in improving pregnancy rates (Trial Registration Number: NCT00566956).

From consenting patients (n = 40), FCs were recovered on a per follicle basis by individual follicle puncture. Hybridization analyses using a custom-made complementary DNA microarray containing granulosa/cumulus expressed sequence tags (ESTs) from subtracted libraries and an Affymetrix GeneChip^® were performed to identify specific genes expressed in follicles leading to a pregnancy. The selected candidate genes were validated by quantitative-PCR (Q-PCR).

Subtractive libraries prepared from pooled samples representing pregnant versus non-pregnant patients produced 1694 ESTs. Hybridization data analysis discriminated 115 genes associated with competent follicles. Selected candidates were confirmed by Q-PCR: 3-beta-hydroxysteroid dehydrogenase 1 (P = 0.0078), Ferredoxin 1 (P = 0.0203), Serine (or cysteine) proteinase inhibitor clade E member 2 (P = 0.0499), Cytochrome P450 aromatase (P = 0.0359) and Cell division cycle 42 (P = 0.0396).

Microarray technologies are useful to mine the transcriptome of FCs expressed in follicles associated with competent oocytes and could be used to improve embryo selection with the objective of successful single embryo transfer.

Data were based on a questionnaire in a consecutive sample of 1169 women and 1081 Danish men prior to beginning assisted reproduction treatment. Multilevel modeling using the Actor Partner Interdependence Model and follow-up analysis of variance were used to examine the couple as the unit of analysis.

A partner’s use of active-avoidance coping was related to the increased personal, marital and social distress for men and women. A woman’s use of active-confronting coping was related to increased male marital distress. And a partner’s use of meaning-based coping was associated with decreased marital distress in men and increased social distress in women.

Although understudied, partner coping patterns play a key role in a partner’s ability to cope with the infertility experience. Physicians and mental health providers can help couples to understand the coping strategies that lead to increased and decreased partner distress.

Replicate whole human genome arrays were generated for immature and mature oocytes (matured in vivo and in vitro, prior to exposure to sperm) recovered from women undertaking gonadotrophin treatment for assisted reproduction.

More than 2000 genes were identified as expressed at more than 2-fold higher levels in oocytes matured in vitro than those matured in vivo (P < 0.05, range 4.98 x 10^–2 –2.22 x 10^–4) and 162 of these are expressed at 10-fold or greater levels (P < 0.05, range 4.98 x 10^–2–1.38 x 10^–3). Many of these genes are involved in transcription, the cell cycle and its regulation, transport and cellular protein metabolism.

Global gene expression profiling using microarrays and bioinformatics analysis has provided a molecular basis for differences in the developmental competence of oocytes matured in vitro compared with in vivo. The over-abundance of transcripts identified in immature germinal vesicle stage oocytes recovered from gonadotrophin stimulated cycles and matured in vitro is probably due to dysregulation in either gene transcription or post-transcriptional modification of genes. Either mechanism would result in an incorrect temporal utilization of genes which may culminate in developmental incompetence of any embryos derived from these oocytes.

Two experimental approaches are used: oocyte labeling to identify the presence of HS and analysis of sperm decondensing ability of fresh oocytes in the presence or absence of specific glycosidases.

Staining of mouse zona-intact oocytes with the fluorescent cationic dye, Rubipy, at pH 1.5 allowed for the detection of sulfate residues in the ooplasm by confocal microscopy. HS was detected in the ooplasm by immunocytochemistry. A sperm decondensation microassay using heparin and glutathione was successfully developed. The same level of sperm decondensation could be attained when heparin was replaced by mouse zona-free oocytes. Addition of heparinase to the oocyte/glutathione mixture significantly reduced sperm decondensation (P = 0.0159), while there was no effect following addition of either chondroitinase ABC or hyaluronidase.

The results presented in this paper demonstrate for the first time that HS is present in the mammalian oocyte and show that HS is necessary for fresh oocytes to express their sperm decondensing ability in vitro.

Ovarian cortical biopsies were obtained from six women aged 26–40 years, with informed consent, during elective Caesarean section. Small tissue slices of ovarian cortex, with underlying stromal tissue removed, were cultured in serum-free medium for 6 days and at the end of this period pre-antral (secondary) follicles were dissected from the strips. Seventy-four intact pre-antral follicles ranging in size (66–132 µm) (mean size 100 µm ± 3.4) were selected for further culture. Follicles were placed individually within V-shaped microwell culture plates in serum-free medium in the presence (n = 38) or absence (n = 36) of 100 ng/ml of human recombinant activin A.

Pre-antral follicles grown for 4 days in the presence of activin A grew to a larger size (mean diameter 143 µm ± 7.4) than those grown in control medium (mean diameter 111 µm ± 8) (P < 0.005). Ninety percent of follicles cultured in the presence of activin A increased in size during the first 2 days of culture compared with only 36% of follicles in control medium (P > 0.005). Of the follicles surviving the entire culture period, 30% of those cultured in the presence of activin A showed normal morphology with intact oocytes and antral formation. None of the follicles grown in control medium developed antral cavities and >90% of those follicles collected at the end of the culture period showed signs of oocyte degeneration.

The results reported here demonstrate that under certain conditions, it is possible to achieve accelerated oocyte/follicle development from human primordial/primary follicles. This provides the first encouraging step towards achieving full in vitro growth of human oocytes.

Protein expression was determined by immunofluoresence, western blotting analysis, immunohistochemistry and indirectly by RT–PCR, whereas apoptotic cell death was assessed by in situ DNA fragmentation analysis.

Coelomic cells express Fas/FasL proteins, can undergo apoptosis and were the only cells in which apoptosis, Fas protein expression and FasL protein expression were accordingly increased along with gestational age (P = 0.001, P = 0.008; P = 0.012, respectively). In contrast, amniotic cells and trophoblast showed a consistency in the expression levels of Fas/FasL proteins in healthy pregnancies. MM were accompanied by increased Fas/FasL protein expression in all examined samples (P < 0.001). The increase of Fas/FasL protein expression was accompanied by proportional increase of apoptotic incidents among the coelomic cell population (P = 0.023, P = 0.009, respectively), whereas amniotic cells and trophoblast appeared to be resistant to Fas-induced apoptosis. The lowest expression of Fas/FasL proteins and the minimum occurrence of apoptotic incidents were detected in the trophoblast.

These data suggest that there is a different regulation and function of the Fas/FasL system in early human pregnancies. Aberration of the Fas-mediated apoptosis may represent one of the execution-step necessary for pregnancy loss in MM cases.

Early gestation villous tissue (11–14 weeks gestation), obtained by chorionic villus sampling, was cultured in 3 or 20% oxygen. Maternal and fetal outcomes were ascertained for all samples. The frequency and amount of trophoblast outgrowth and migration from villi were measured for up to 192 h.

Significantly fewer explants produced outgrowths in 3% compared with 20% oxygen. The number of sites of trophoblast outgrowth and the extent of migration were also significantly less in 3% compared with 20% oxygen. In vitro hypoxia/reoxygenation further reduced trophoblast growth compared with 3% oxygen alone. HLA-G expression in extravillous trophoblasts was not affected by oxygen tension, with HLA-G positive extravillous trophoblasts being universally Ki67 negative.

Human placental villi and extravillous trophoblasts in the late first trimester of pregnancy are sensitive to oxygen tension, with low oxygen inhibiting extravillous trophoblast outgrowth and migration.

This is a retrospective cohort study in which women who contributed amniotic fluid specimens to a bank from 2003–2006 were followed to determine their pregnancy complications and pregnancy outcome. Amniotic fluid specimens were collected from the Reproductive Genetics Laboratory of the Hospital of the University of Pennsylvania subsequent to routine amniocentesis. INSL3 and total testosterone levels were measured in amniotic fluid (from n = 50 female, n = 237 male fetuses) by validated immunoassays and correlated with maternal characteristics, pregnancy complications and outcomes.

INSL3 was only detectable in amniotic fluid from male fetuses, and highest levels occurred from weeks 15–17 of gestation. INSL3 concentration was positively associated with increased birth weight, the occurrence of pre-eclampsia and advanced maternal age, but not with testosterone levels.

INSL3 concentration in human amniotic fluid is potentially predictive of fetal sex and pre-eclampsia, and presumably reflects the functioning of the fetal Leydig cell population.

To investigate whether a comparable but time-shifted effect is also present in the Southern hemisphere where the seasonal variation of the environment is reversed, we analysed the association between birth month and offspring count in post-reproductive New Zealand women. We further examined whether this association differed with the hemisphere of birth as well as the socio-economic background.

We find that the association between birth month and offspring count of New Zealand women born in the Southern, albeit not Northern, hemisphere is a mirror image of the pattern reported from Austrian women: on average, women born during the Southern hemisphere summer months have fewer children than women born in winter. This association is highly significant within the lowest family income category but insignificant within higher family income categories.

This study provides evidence for a causal link between the seasonality of the environment during the pre- and perinatal period and offspring count of women. It further indicates that the main contribution of the birth month effect found in the present study comes from the lowest family income category.

gr/gr deletions were analyzed by using markers sY1291, sY1191 and sY1197 and by investigating the presence of single nucleotide variants (SNV) in DAZ and CDY1 genes in patients with azoospermia (n = 44), cryptozoospermia (n = 51) or severe oligozoospermia (n = 92). Control groups consisted of men with normal spermatogenesis on testicular biopsy (n = 33), normozoospermia (n = 278) or proven fertility (n = 83).

We observed 20 gr/gr deletions, with eight in infertile patients (4.3%) and 12 in the control groups (3.0%), which was not significantly different. DAZ SNV analysis revealed eight different deletion patterns in patients and controls.

In the present study, no significant differences in the frequency of gr/gr deletions between different patient and control groups were observed. We concluded that the relationship between gr/gr deletions and male infertility remains unclear and that it is too early to systematically test for gr/gr deletions for infertile couples seeking assisted reproduction treatment.

One hundred and sixty women undergoing an IVF cycle were enrolled and a buccal smear was obtained. The presence of IL-1RN variable number of tandem repeats and IL-1B + 3953, MMP2-1306 and MMP9-1562 single nucleotide substitutions were determined. Patients were divided into pregnancy failures (119), biochemical pregnancies (8) and clinical pregnancies (33).

There was a 40% decrease in IL-1RN*2 allele frequency (P = 0.024) and a 45% decrease in IL-1RN*2 carrier status in the clinical pregnancy group as compared to the pregnancy failure group (P = 0.017). This decrease was still statistically significant after a multivariate logistic regression analysis. The likelihood of a clinical pregnancy was decreased accordingly in IL-1RN*2 carriers: odds ratio = 0.349, 95% confidence interval = 0.2–0.8, P = 0.017. The IL-1B, MMP2 and MMP9 polymorphisms showed no correlation with IVF outcome.

IL-1RN*2 allele carriage is associated with a poor prognosis of achieving a pregnancy after IVF.

In this case–control study, 227 endometriosis and 241 controls were genotyped for MMP1 –1607 1G/2G, MMP2 –1575 G/A (MMP2.1), –1306 C/T (MMP2.2), MMP3 –1612 5A/6A, MMP7 –153 C/T (MMP7.1), –181 A/G (MMP7.2), MMP12 –82 A/G and MMP13–77 A/G. Association between MMP genotypes and superficial (SUP), deep infiltrating (DIE) and endometriomas (OMA) was tested for each polymorphism separately, using unconditional logistic regression and then for combined genotypes, using the combination test.

When considering all cases, MMP2 polymorphisms were found to be significant, mainly due to DIE (P = 0.023). A small difference between SUP and controls was found for MMP7.2 (P = 0.032) and MMP12 (P = 0.035), in the absence of correction for multiple testing. Using the combination test, the best association when comparing SUP with controls was obtained for MMP12–MMP13 (P = 0.004) for the combined genotype A/G–A/A (odds ratio = 27.60, 95% confidence interval: 2.80–272.40).

These data show a potential role for MMP12 –82 A/G and MMP13 –77 A/G combined polymorphisms in superficial endometriosis. As no association was found with deep infiltrating endometriosis, this combination of polymorphisms might protect from a more in-depth penetration of tissues.

Women with and without PCOS (287 cases, 187 controls) were genotyped for three single nucleotide polymorphisms (SNPs) in SGTA. SNPs and haplotypes were determined and tested for association with PCOS and component traits of PCOS.

For SNP rs1640262, homozygotes for the minor allele were protected against PCOS (P = 0.009). Haplotype 1 (G–A–T) was associated with increased risk of PCOS (P = 0.015). In women with PCOS, haplotype 2 (A–G–C) was associated with increased insulin resistance (P = 0.013), consequently resulting in increased insulin secretion (P = 0.014).

This study presents genetic evidence suggesting a potential role of SGTA in the pathogenesis of PCOS. SGTA may provide a connection between multiple pathways in PCOS.

We determined the level of FSH and AMH in serum samples collected during early follicular phase from women who carried longer FMR1 repeat alleles (defined as ≥70 repeats, n = 40) and those with shorter repeat alleles (<70 repeats, n = 75), identified by DNA analysis. Comparisons were made stratified by age and carrier status.

For all age groups, AMH levels were significantly lower among longer repeat allele carriers compared to shorter repeat allele carriers (P = 0.002, 0.006 and 0.020 for women ages 18–30, 31–40 and 41–50 years, respectively). In contrast, increased FSH indicative of early ovarian decline was only evident for longer repeat allele carriers aged 31–40 years (P = 0.089, 0.001 and 0.261 for women ages 18–30, 31–40 and 41–50 years, respectively).

These preliminary data suggest that AMH levels indicate early ovarian decline among women with longer FMR1 repeat alleles; moreover, AMH appears to be a better marker than FSH in identifying this early decline.

Using a standardized questionnaire, affected MRKH patients were asked about other cases of MRKH and/or associated malformations among siblings and relatives.

No other cases of MRKH syndrome had occurred among the siblings or relatives of 73 MRKH patients; however, 13 associated malformations were recorded among a total of 103 siblings. Musculoskeletal malformations were markedly increased (3.27 times higher) in comparison with the prevalence of congenital malformations among newborns in the normal population.

This study shows that dominant inheritance cannot play a role in the etiology of MRKH syndrome, as no further cases of MRKH syndrome occurred among any of the siblings. The study provides support for the view that the syndrome has a multifactorial pathogenesis. Siblings/relatives of MRKH patients should be examined for associated musculoskeletal/urogenital malformations.