Follicular Fluid Components in Reduced Ovarian Reserve, Endometriosis, and Idiopathic Infertility.

Follicular fluid (FF) molecules, and their increase or decrease, can contribute to appropriate follicular growth and oocyte maturation, thus being related to female infertility conditions. In this paper, we studied the changes and the relationships of some biochemical components, hormones, antioxidant enzymes, F2-Isoprostanes (F2-IsoPs), and resolvin (Rv) D1 in the FF of infertile women with different reproductive conditions such as endometriosis, reduced ovarian reserve, and idiopathic infertility during assisted reproductive techniques (ART). In the whole population, positive correlations between albumin (ALB)/iron (Fe), ALB/beta-2-microglobulin (B2MG), and F2-IsoPs/RvD1 were detected in the FF. In FF from aged women, increased levels of follicle stimulating hormone (FSH) and reduced anti-Müllerian hormone (AMH) levels were associated with a worse oocyte quality. The negative ART outcome was influenced by patient age and AMH, B2MG, and FSH levels. Moreover, the reduced ovarian reserve condition was characterised by a significant decrease in oocyte number and quality, AMH amount, and lactate dehydrogenase (LDH) activity, as well as by an increase in age and FSH levels. In the presence of endometriosis, high levels of MDA and RvD1 were detected in FF, with a decrease in luteinising hormone (LH). Finally, among the molecules examined, none characterised the condition of idiopathic infertility. These data could support the identification of new FF markers in different reproductive disorders, suggesting the need for personalised therapeutic approaches and optimised ART outcomes. In particular, the evaluation of resolvins and lipid mediators in FF could be a promising field of investigation with which to understand the entity of oxidative stress and inflammation in some female infertility conditions.

Do Seminal Isoprostanes Have a Role in Assisted Reproduction Outcome?

F2-isoprostanes (F2-IsoPs), stereoisomers of prostaglandin F2α generated by the free radical-induced oxidation of arachidonic acid, have been associated with different male infertility conditions. This study aimed to evaluate the role of seminal isoprostane levels and sperm characteristics in the reproductive outcome and embryo quality of 49 infertile couples. Semen analysis was performed following WHO guidelines. Sperm chromatin maturity was detected using an aniline blue (AB) assay, and DNA integrity was assessed using the acridine orange (AO) test. Seminal F2-IsoP levels were quantified by gas chromatography/negative ion chemical ionization tandem mass spectrometry (GC/NICI-MS/MS) analysis. Correlations among variables and their impact on in vitro fertilization (IVF) and intracytoplasmic sperm injection (ICSI) outcome were investigated. F2-IsoP levels are positively correlated with double-stranded DNA sperm (p < 0.001) and negatively correlated with mature sperm chromatin (p < 0.001). Patients with positive outcomes had an increased percentage of sperm with double-stranded DNA, as did patients producing high-quality embryo, who showed higher F2-IsoP levels compared to those detected in the low-quality embryo group. An intriguing relationship between a mild increase in F2-IsoP levels, DNA integrity, and embryo quality seems to indicate that the non-enzymatic oxidation of arachidonic acid can be also a marker of metabolic activity in human semen.

Protective Effect of Chlorogenic Acid on Human Sperm: In Vitro Studies and Frozen-Thawed Protocol.

The study evaluated the chlorogenic acid (CGA) antioxidant potential on oxidative stress (OS) induced in vitro in human spermatozoa and during cryopreservation procedure. Swim-up selected spermatozoa were treated with 100 µM CGA, 100 µM H2O2 to induce lipid peroxidation (LPO), and with both compounds and the effects on mitochondrial membrane potential (MMP) by JC-1, DNA integrity by acridine orange (AO), and sperm ultrastructure by transmission electron microscopy (TEM), were evaluated. CGA antioxidant activity was assessed by measuring malondialdehyde (MDA) and F2-isoprostanes (F2-IsoPs) in the media. The CGA protective activity and the immunolocalization of Phospho-AMPKα (Thr172) were explored in frozen-thawed sperm. CGA was not toxic for sperm motility, DNA integrity and MMP. The increase in MDA (p < 0.05) and F2-IsoPs (p < 0.001), DNA damage (p < 0.01) and low MMP (p < 0.01) levels after H2O2 treatment were reduced in presence of CGA as well as the percentage of broken plasma membranes (p < 0.01) and altered acrosomes (p < 0.01) detected by TEM. Treated frozen-thawed spermatozoa showed increased sperm motility (p < 0.01), DNA integrity (p < 0.01), MMP (p < 0.01), reduced MDA (p < 0.01) and increased sperm percentage with Phospho-AMPKα labelling in the head (p < 0.001). CGA can be used to supplement culture media during semen handling and cryopreservation where OS is exacerbated.

Semen Biochemical Components in Varicocele, Leukocytospermia, and Idiopathic Infertility.

The evaluation of the seminal plasma plays a relevant role in the definition of male infertility and in assisted reproduction outcomes; for this reason, it would be recommended to find biochemical markers able to characterize sperm pathology. In this study, 53 infertile patients (grouped by the presence leukocytospermia, idiopathic infertility, or varicocele) and 10 fertile men were selected. Spermiogram was performed by light microscopy, and sperm ultrastructure was evaluated by transmission electron microscopy (TEM) mathematically elaborated. Testosterone (TESTO), estradiol (E2), ferritin (FERR), iron (Fe), transferrin (TRSF), triglycerides (TRG), cholesterol (CHOL), and isoprostanes (F2-IsoPs) were detected in seminal plasma. Sperm characteristics and biochemical components were correlated by Spearman's rank correlation coefficient in the whole population and in each group. The levels of TESTO and E2 were positively correlated with sperm quality in particular, and E2 was correlated with fertility index expressing the number of sperm free of ultrastructural defects evaluated by TEM. On the contrary, the indices of iron metabolism (FERR, Fe, and TRSF) were positively associated with low sperm quality and sperm necrosis, particularly in leukocytospermia and varicocele groups, pathologies in which an inflammatory status and oxidative stress condition are present. The study of the seminal plasma composition deserves attention because the levels of the various components seem to be associated with specific reproductive pathologies.

Effects of antioxidant treatment on seminal parameters in patients undergoing in vitro fertilization.

OBJECTIVE: The aim of this non controlled trial was to assess whether a therapy with an antioxidant supplement may improve spermatozoa quality in terms of number, motility, morphology and a higher number of successful conceptions in patients with oligoasthenoteratozoospermia undergoing cycles of medically assisted reproduction by intracytoplasmic sperm injection (ICSI). MATERIALS AND METHODS: 32 patients registered at A.G.I. Medica (Siena) medically assisted reproduction centre affected by fertility problems associated with oligoasthenoteratozoospermia were included in the study. Semen analysis were evaluated according to World Health Organization 2010, before and after treatment. Moreover, we used colorimetric tests to assess oxidative stress. After evaluating oocyte fertilisation rate and the quality of embryos obtained, data were statistically analysed. RESULT: Microscopy examination after the therapy, showed a general improvement in sperm parameters (number of sperms, progressive motility, viability and normal morphology) in both baseline and capacitated; also the levels of oxidative stress was notably lower after the treatment. Morever we evaluated the outcome of the IVF treatment, the percentage of fertilization and the number of embryos obtained, all the parameters was significantly higher in the N1 group. CONCLUSIONS: The outcomes of this trial seem to suggest that the administration of our food supplement improve semen parameters and that the evaluation of oxidative stress levels may become a diagnostic tool to assess male infertility in patients undergoing ART cycle.

Characterisation of three systematic sperm tail defects and their influence on ICSI outcome.

This study characterized three cases of systematic sperm tail defects using electron microscopy and immunolocalisation of centrin 1 and tubulin and explored their impact on ICSI outcome. Structural sperm tail defects of possible genetic origin were suspected as the eosin test revealed a sperm viability of >70% despite severe asthenozoospermia or the absence of motility. In Patient 1, 80%-85% of axoneme cross sections was incomplete. The fluorescent signal of tubulin was weak along the entire tail; the signal of centrin 1 was normal. After ICSI, a female healthy baby was born. Patient 2 showed spermatozoa with tails reduced in length at different levels, axonemal and periaxonemal alterations and fragility of head-tail junction. Centrin 1 was altered in 80% of sperm. After ICSI, no embryos were obtained. Patient 3 showed tails reduced in length at light and fluorescence microscopy; ultrastructural study revealed a condition of dysplasia of fibrous sheath with heterogeneity of tails' length. The signal for centrin 1 was altered in 50% of spermatozoa; two embryos were transferred without pregnancy. The correct diagnosis of sperm pathology is important in case of systematic sperm defects as it enables the clinician to improve patient's management and to provide an adequate genetic counselling.

Chromosomal aberrations and aneuploidies of spermatozoa.

Chromosomal abnormalities are relevant causes of human infertility, affecting 2 -14 % of infertile males. Patients with seminal anomalies could be affected by improper meiotic recombination and increased sperm chromosome aneuploidy. Since the transmission of a haploid chromosomal asset is fundamental for embryo vitality and development, the study of sperm chromosomes has become fundamental because intracytoplasmic sperm injection allows fertilization in cases of severe male infertility.In this chapter we summarize the data on the incidence of sperm aneuploidy, detected by fluorescence in situ hybridization (FISH), in infertile men with normal or abnormal karyotype. The possibility of reducing sperm chromosomal imbalance is also reported.Among control males, the lowest aneuploidy rate was detected (range: 0.09 -0.14 % for autosomes; 0.04 -0.10 % for gonosomes). In infertile patients with normal karyotype, the severity of semen alteration is correlated with the frequency of aneuploidy, particularly for X and Y chromosomes. Among patients with abnormal karyotype, 47,XXY and 47,XYY carriers showed a high variability of sperm aneuploidy both for gonosomes and autosomes. In Robertsonian translocation carriers, the increase in aneuploidy rate was particularly evident for total sex disomy, and resulted mainly from interchromosomal effect (ICE). In reciprocal translocation carriers, a high percentage of unbalanced sperm (approximately 50 %) was detected, perhaps mostly related to ICE.Sperm chromosomal constitution could be analyzed to obtain more accurate information about the causes of male infertility. It would be worthwhile to evaluate the benefits of a therapy with recombinant Follicle Stimulating Hormone (rFSH) on sperm chromosome segregation in selected infertile males.

Protein modification as oxidative stress marker in normal and pathological human seminal plasma.

OBJECTIVE: Our study aims to assess the oxidative stress status of seminal plasma from normozoospermic, azoospermic, and leukocytospermic males, since abnormal sperm and leukocytes in human ejaculates are the main source of reactive oxygen species (ROS) which lead to oxidative damages. For this purpose we applied a biochemical approach to the assessment of the oxidative stress status by using two-dimensional (2D) electrophoresis to check the level of protein oxidation after specific labeling of free thiol (-SH) groups. METHODS: Seminal plasma samples from normal and pathological males were analyzed by a luminol-based chemiluminescent assay. The same samples after specific labeling of free -SH groups with 3-N-maleimidopropionyl biocytin, were analyzed by 2D electrophoresis and computer-assisted semiquantitative determination of the amount of free -SH groups. RESULTS: Using a standard chemiluminescence assay, we demonstrated a high, low and normal level of ROS, respectively, in seminal plasma from leukocytospermic, azoospermic, and normozoospermic subjects. By 2D electrophoresis and streptavidin blotting of specifically labeled free -SH groups of proteins, we detected in the same samples a higher level of oxidated -SH groups comparable between azoospermic and leukocytospermic samples, whereas a significantly higher level of free -SH groups was detected in normozoospermic subjects. DISCUSSION: Our results demonstrated that a pathological oxidative stress status in seminal plasma may be revealed by the levels of the protein free -SH groups, both in the presence or absence of cells.

The impact of environmental exposure to perfluorinated compounds on oocyte fertilization capacity.

In an attempt to assess the effect of perfluorinated compounds (PFC) on oocytes quality and fertilization rate, we studied follicular fluid (FF) PFC levels in 18 patients undergoing IVF-ET cycles. A significant correlation (R = 0.75; P < 0.001) was observed between FF PFC levels and fertilization rate. Moreover, patients with FF PFC contamination had significantly lower fertilization rate (p < 0.02) and number of embryos transferred (p < 0.02), compared to the PFC negative group.

Successful multiple pregnancy achieved after transfer of frozen embryos obtained via intracytoplasmic sperm injection with testicular sperm from an AZFc-deleted man.

OBJECTIVE: To describe a case of successful triplet pregnancy after testicular sperm extraction (TESE) from a man with AZFc deletion and intracytoplasmic sperm injection (ICSI). DESIGN: Case report. SETTING: University hospital. PATIENT(S): A 38-year-old man affected by complete AZFc deletion and azoospermia. INTERVENTION(S): Spermiogram, Y-chromosome microdeletion screening, TESE for sperm recovery from testicular tissue on the same day as ICSI, transfer of frozen-thawed embryos, vaginal ultrasound examination. MAIN OUTCOME MEASURE(S): The Y chromosome genetic status of an azoospermic patient who underwent TESE and ICSI, the fertilization and pregnancy outcome. RESULT(S): The patient was found to be azoospermic, and the deletion screening showed complete AZFc deletion. After TESE, the recovered testicular sperm were selected for ICSI. Three good quality embryos were obtained and were frozen due to ovarian hyperstimulation syndrome in the female partner. After transfer of the thawed embryos, a triplet pregnancy was diagnosed by vaginal ultrasonography at the seventh week of gestation. Two male and one female healthy babies were born. CONCLUSION(S): This is the first report of a successful triplet pregnancy after the transfer of frozen-thawed embryos in a couple in whom the male partner was azoospermic and a carrier of complete AZFc deletion. This deletion should not adversely affect a man's TESE retrieval prognosis or the fertilization, cleavage, and implantation of embryos. The offspring were healthy, although the two sons inherited the AZFc deletion.

Intracytoplasmic sperm injection and pregnancy with decapitated sperm.

OBJECTIVE: To perform intracytoplasmic sperm injection (ICSI) in couples with primary infertility owing to sperm defects causing total immotility. DESIGN: Case report. SETTING: Couple Sterility Center, University of Siena. PATIENT(S): Two infertile couples, the male members of which had "detached tail" genetic sperm defect. MAIN OUTCOME MEASURE(S): Physical and hormonal assays, semen analysis by light and electron microscopy, Y microdeletion screening, immunofluorescence, fluorescence in situ hybridization analysis of sperm nuclei, and PCR for partial sequences of AKAP4/AKAP3 binding regions were performed. The couples then underwent ICSI. RESULT(S): Transmission electron microscopic analysis showed that the cause of sterility was "detached tail" genetic sperm defect. Immunofluorescence staining confirmed sperm structural alterations. Screening of Y microdeletions, partial sequences of AKAP4/AKAP3 binding regions, and fluorescence in situ hybridization did not show any sperm nucleus abnormalities. Three and two ICSI cycles were performed in the two couples. One pregnancy was achieved and a healthy baby with a normal female karyotype was born. CONCLUSION(S): One couple successfully underwent ICSI with "detached tail" sperm and gave birth to a healthy baby, suggesting that this structural abnormality may be bypassed by injecting sperm with a normal centriolar region.

Sperm aneuploidies after human recombinant follicle stimulating hormone therapy in infertile males.

Errors in sperm chromosome segregation are frequently observed in infertile males. It would therefore be useful to develop methods for reducing the rate of aneuploidy in spermatozoa. Thirty-one males were selected with an elevated frequency of total sperm aneuploidy of sperm chromosomes 18, X and Y by fluorescence in-situ hybridization (FISH): 22 were treated with 150 IU of recombinant FSH on alternate days for 3 months and the other nine (controls) did not receive any hormonal treatment. Before therapy, FISH analysis demonstrated an increased frequency of diploidy (0.663 +/- 0.09%), disomy (0.412 +/- 0.03%) and total aneuploidy (1.30 +/- 0.12%) in the 22 males. Sperm analyses revealed reduced progressive motility (26.73 +/- 2.3%) and a reduced percentage of spermatozoa with normal morphology (23.86 +/- 5.3%). After 90 days of therapy, a significant reduction in aneuploidies (mean total aneuploidy: 0.86% +/- 0.11; P = 0.005) was obtained, as well as an improvement in functional and structural sperm characteristics. In untreated patients, no significant change in semen parameters and frequency of total aneuploidy was observed between baseline (1.054 +/- 0.06%) and 90 days later (1.080 +/- 0.05%). It is therefore suggested that deranged meiotic segregation in spermatozoa could be reduced by FSH treatment.

Spermatogenesis in a man with complete deletion of USP9Y.

Deletions in the azoospermia factor region AZFa on the human Y chromosome and, more specifically, in the region that encompasses the ubiquitin-specific peptidase 9, Y-linked gene USP9Y have been implicated in infertility associated with oligospermia and azoospermia. We have characterized in detail a deletion in AZFa that results in an absence of USP9Y in a normospermic man and his brother and father. The association of this large deletion with normal fertility shows that USP9Y, hitherto considered a candidate gene for infertility and azoospermia, does not have a key role in male reproduction. These results suggest that it may not be necessary to consider USP9Y when screening the Y chromosome of infertile or subfertile men for microdeletions.

Correlation between oocyte preincubation time and pregnancy rate after intracytoplasmic sperm injection.

BACKGROUND AND AIM: Both nuclear and cytoplasmic maturation of oocytes have to be completed in a coordinated manner to ensure optimal conditions for fertilization. This is well known for in vitro fertilization, but is debated for intracytoplasmic sperm injection (ICSI). It has been reported that preincubation of oocytes prior to ICSI is associated with improved maturation of oocytes, fertilization and embryo quality. Therefore, in the present study, we evaluated the fertilization rate, embryo quality and pregnancy rate in relation to incubation times of metaphase-II oocytes before ICSI. METHOD: We analyzed 135 selected ICSI cycles. Subjects were assigned to six groups according to oocyte incubation time before ICSI: 2-4 h, 5 h, 6 h, 7 h, 8 h and 9-12 h. RESULTS: We observed that the fertilization rate increased slightly at short (2 to 6 h) and then decreased at longer preincubation times (7 to 12 h). Concomitantly, cleavage rate increased up to 6 h of preincubation and decreased significantly in the groups in which ICSI was carried out after 7 to 12 h of incubation. With regard to clinical pregnancy rate, we observed a significant increase from 2 to 5 h of preincubation, when this parameter reached its maximum value (35%), tapering to 33% after 6 h and then dropping sharply to 12 h. CONCLUSIONS: These data confirm that the most appropriate incubation time for mature oocytes before ICSI is 5-6 h. This time improves embryo quality and pregnancy rate in ICSI cycles.

Sperm quality improvement after natural anti-oxidant treatment of asthenoteratospermic men with leukocytospermia.

AIM: To study the immune-modulating and anti-oxidant effects of beta-glucan, papaya, lactoferrin, and vitamins C and E on sperm characteristics of patients with asthenoteratozoospermia associated with leucocytosis. METHODS: Fifty-one patients referred to our Sterility Center for semen analysis were selected. Sperm parameters were assessed before and after patient's treatment with beta-glucan, lactoferrin, papaya, and vitamins C and E. DNA damage was assessed by the acridine orange test and sperm structural characteristics were evaluated by transmission electron microscopy. RESULTS: After 90 days of treatment, an increase in the percentage of morphologically normal sperm (17.0 +/- 5.2 vs. 29.8 +/- 6.5) and total progressive motility (19.0 +/- 7.8 vs. 34.8 +/- 6.8) were detected. Structural sperm characteristics as well as chromatin integrity were also improved after treatment. In terms of leukocyte concentration in seminal fluid, a significant reduction was recorded (2.2 +/- 0.9 vs. 0.9 +/- 0.2). CONCLUSION: The treatment of an inflammatory process by the synergic action of immune modulators and anti-oxidants could protect sperm during maturation and migration, leading to improved sperm function.

Sperm quality and pregnancy rate after COX-2 inhibitor therapy of infertile males with abacterial leukocytospermia.

BACKGROUND: Leukocytes are a frequent finding in seminal plasma of infertile males with abacterial inflammation. We evaluated the effects of treatment with rofecoxib, a cyclooxygenase-2 inhibitor, on sperm quality and pregnancy rate after intrauterine insemination (IUI) or monitored intercourse. METHODS: We selected 47 infertile patients referred to our sterility centre for semen analysis. Sperm evaluation was performed by light microscopy with Papanicolau and eosin staining, before and 1 month after therapy. Swim-up selection was carried out in two steps. Starting 6-8 weeks after the end of therapy, couples underwent different procedures of assisted fertilization according to their semen parameters. RESULTS: Semen analysis 30 days after the end of therapy showed a significant reduction in leukocyte concentrations with respect to baseline, an improvement of sperm motility and morphology, particularly the presence and shape of the acrosomal complex and tail structure. After monitored intercourse and IUI, pregnancy rate was 15.8 and 11.3%, respectively. CONCLUSIONS: Our results suggest that a decrease in leukocytospermia after rofecoxib therapy was associated with recovery of all seminal characteristics in basal and swim-up selected samples. This general improvement could justify the positive outcome of ART after anti-inflammatory therapy.

Fluorescence in situ hybridization and molecular studies in infertile men with dysplasia of the fibrous sheath.

OBJECTIVE: To perform fluorescence in situ hybridization (FISH) and molecular analysis in patients with the genetic sperm defect "dysplasia of the fibrous sheath" (DFS). DESIGN: Retrospective study. SETTING: Regional Referral Center for Male Infertility, Siena, Italy. PATIENT(S): Twelve infertile patients with DFS sperm defects. INTERVENTION(S): Family history, lymphocytic karyotype, physical and hormonal assays, semen analysis. MAIN OUTCOME MEASURE(S): The DFS sperm phenotype was defined by light, fluorescent, and electron microscopy. Sperm chromosomal constitution was examined by FISH. Gene deletions were tested by polymerase chain reaction. RESULT(S): The genetic sperm defect DFS was determined by transmission and scanning electron microscopy. Immunofluorescence staining of A-kinase anchoring protein 4 (AKAP4) showed a moderate and diffuse signal, revealing a disorganized and incompletely assembled fibrous sheath. In 11 of 12 DFS patients, polymerase chain reaction for detecting the presence of partial sequence of AKAP4/AKAP3 binding regions gave positive results. Fluorescence in situ hybridization was performed in decondensed sperm nuclei with probes for chromosomes 18, X, and Y. The mean disomy frequency of chromosome 18 was in the normal range, whereas the mean disomy frequencies of sex chromosomes and diploidies were twice those of controls. CONCLUSION(S): These results should be considered when DFS sperm are used in assisted reproductive technology, owing to the high risk of transmission of chromosomal unbalance and of DFS sperm defects to male offspring.

An ultrastructural and immunocytochemical study of a rare genetic sperm tail defect that causes infertility in humans.

OBJECTIVE: To characterize and describe the ontogenesis of a rare flagellar defect affecting the whole sperm population of a sterile man. DESIGN: Case report. SETTING: Regional referral center for male infertility in Siena, Italy. PATIENT(S): A 28-year-old man with severe asthenozoospermia. INTERVENTION(S): Physical and hormonal assays, semen analysis, and testicular biopsy. MAIN OUTCOME MEASURE(S): Semen samples and testicular biopsies were analyzed by light and transmission electron microscopy; immunocytochemical study with anti-beta-tubulin and anti-AKAP 82 antibodies was performed to detect the presence and distribution of proteins. RESULT(S): Ultrastructural analysis of ejaculated spermatozoa and testicular biopsy revealed absence of the fibrous sheath in the principal-piece region of the tail. Fibrous sheath-like structures were observed in cytoplasmic residues and residual bodies released by spermatids in the seminiferous epithelium. Other anomalies observed were supplementary axonemes and mitochondrial helix elongation. These features were confirmed by immunocytochemical staining. CONCLUSION(S): This rare sperm tail defect, characterized by absence of the fibrous sheath, presence of supplementary axonemes, and an abnormally elongated midpiece, originates in the seminiferous tubules during spermiogenesis, as detected in testicular biopsy sections. These defects occur in the whole sperm population, and therefore a genetic origin could be suggested.

Infertile spermatozoa in a human carrier of robertsonian translocation 14;22.

OBJECTIVE: To present the ultrastructural, functional, and chromosomal analyses of spermatozoa from an infertile man with normal phenotype and chromosomal translocation 14;22. DESIGN: Case report. SETTING: Regional Reference Center for Male Infertility in Siena, Italy. PATIENT(S): A 36-year-old man with primary infertility for 3 years and his parents. INTERVENTION(S): Family history and lymphocytic karyotypes, physical and hormonal assays, and semen analysis. MAIN OUTCOME MEASURE(S): Morphological sperm evaluation was performed by light, fluorescent, and electron microscopy; chromosomal constitution was examined by the fluorescence in situ hybridization (FISH) technique. The penetration ability of spermatozoa was checked by the hamster test. RESULT(S): The spermatozoa of the patient showed unusual ultrastructural defects. The nuclei were large, spheroidal, and generally uncondensed; the acrosomes were frequently absent or reduced; and the axonemes were often devoid of dynein arms or central singlet tubules. These characteristics are related to immaturity. The lymphocytic karyotype revealed a robertsonian translocation 14;22 in the sterile patient and his mother. FISH sperm analysis demonstrated a high frequency of diploidy for the chromosome 18,XY. The hamster penetration test gave negative results. CONCLUSION(S): The unusual structural sperm immaturity is associated with the translocation 14;22. This chromosomal anomaly may therefore negatively influence the spermatogenesis; an interchromosomal effect on meiosis segregation is also suggested.