Biomedical subjects

Aldo E Calogero

Publications and source records attributed to Aldo E Calogero.

At least 19 recordsLinked to original sources

PubMed2026

Reassessing Semen Analysis: Clinical Insights Beyond Sperm Count and Motility.

BACKGROUND: Semen analysis (SA), recognized by the World Health Organization (WHO) as the cornerstone of male infertility evaluation, remains indispensable in reproductive medicine. However, advances in assisted reproductive technology (ART) and artificial intelligence (AI) have highlighted the limitations of relying solely on conventional semen parameters. OBJECTIVE: To critically review the evolving clinical role of SA by integrating conventional assessment with emerging functional, molecular, and computational approaches that improve diagnostic accuracy and individualized patient care. METHODS: A narrative review of contemporary evidence was conducted, focusing on conventional semen parameters, biofunctional sperm testing, omics technologies, AI-assisted analysis, and broader clinical applications of SA. RESULTS: Conventional parameters, including sperm concentration, motility, and morphology, remain essential but inadequately reflect fertilizing capacity. Adjunctive assessments, including oxidative stress biomarkers and sperm DNA fragmentation, provide valuable insights into sperm function and reproductive potential. Omics technologies, including genomics, transcriptomics, proteomics, and metabolomics, deepen mechanistic understanding, while AI enhances diagnostic precision, reproducibility, and standardization. Beyond infertility evaluation, SA also supports male contraceptive assessment, natural conception, ART, and patient counseling. CONCLUSIONS: Integrating conventional SA with functional, molecular, and AI-driven diagnostics provides a comprehensive framework for evaluating male fertility, advancing precision reproductive medicine and personalized clinical management.

cryopreservation↗

PubMed2006

Expression of SpanX mRNA in testicular germ cell tumors.

The function of SpanX proteins is unknown, evidence is accumulating to suggest their involvement in tumorigenesis. A locus in Xq27, where the SpanX gene family is located, has been associated with testicular germ cell tumor (TGCT) onset. Therefore, we evaluated the presence of SpanX mRNA in six TGCT cases by RT-PCR. The results showed that SpanX mRNA is present in TGCT, confirming transcriptional activity of these genes in such tumors.

Base Sequence↗

PubMed2006

Gene expression in mouse spermatogenesis during ontogenesis.

In this study, we evaluated the expression of genes probably involved in spermatogenesis in the mouse. We examined cytosolic chaperonin theta subunit (CCTtheta), Ngg1 interacting factor 3 like 1 binding protein 1 (NIF3L1 BP1) and apolipoprotein H (ApoH) expression during mouse onto-geny using RT-PCR. Testicular tissue was obtained from mice 3, 6, 8, 10, 12, 14, 18, 20 and 40 (adult) days after birth. For each mouse, one testis was used for histological examination, whereas RNA was extracted from the controlateral testis for expression analysis. RT-PCR analysis showed that CCTtheta gene expression was low until day 10, but increased drastically afterwards. At this age, spermatocytes started to be present in the mouse testis. Therefore, CCT protein could be involved in chromatin packaging and remodeling during spermiogenesis, as also suggested by other studies. NIF3L1 BP1 expression increased steadily during ontogenesis reaching maximum levels in the adult mouse when all germ cell stages are present. This finding suggests that NIF3L1 BP1 is a gene not expressed by a specific germ cell type. ApoH expression was very low or absent during prepuberal stages, whereas it was detectable in the adult testis when spermatogenesis was completed. This suggests that ApoH may be involved in clearing apoptotic bodies during spermatogenesis since apoptotic events increase during spermatogenesis. This study contributes to understanding the role played by genes important for spermatogenesis.

Animals↗

PubMed2006

Quantitative evaluation of partial deletions of the DAZ gene cluster.

Partial deletions of the DAZ gene cluster are thought to cause spermatogenesis impairment. The presence of homologous copies of this gene in the Y chromosome does not allow PCR to be used for the identification of this abnormality. Hence, sequence family variants (SFV), following amplification of sY581, sY587 and sY586 and subsequent enzymatic digestion with Sau3A, DraI and TaqI, respectively, and the dual fiber fluorescence in situ hybridization (FISH) have been used to this aim. However, SFV is not always able to identify single DAZ gene copy deletions. We report a quantitative real-time PCR application to evaluate partial deletions of the DAZ gene cluster. To accomplish this, we designed a probe on exon 6 of the DAZ gene which is repeated 3 times in DAZ1, once in DAZ2 and DAZ3 and twice in DAZ4. Five normozoospermic healthy men (C1-C5) having 4 DAZ gene copies by SFV were selected. Fiber-FISH confirmed this outcome in C1-C4, but not in C5 who had an incomplete DAZ gene cluster. The men underwent then quantitative real-time PCR and C1 was arbitrarily selected as calibrator for the calculation of the DAZ gene signals because of the lowest variation in the threshold cycles. Real-time PCR identified 7.2+/-0.05 signals in C2-C4 and 5.4+/-0.05 signals in C5. The overall coefficient of variation was 1.4+/-0.2%. The loss of two signals in this subject may relate to a deletion of both DAZ2 and DAZ3 or of DAZ4 gene. Since SFV showed clearly the presence of DAZ2, it may be hypothesized that C5 lacks DAZ4. In conclusion, these data suggested that quantitative real-time PCR seems to be an effective and reproducible technique that can be used to study the DAZ gene cluster. In addition, the probe chosen for this approach may give indication on the DAZ gene copy deleted.

Adult↗

PubMed2005

Expression of SpanX proteins in normal testes and in testicular germ cell tumours.

We investigated the expression of the SpanX protein family in cells of normal testes and in testicular germ cell tumours, mainly seminomas and embryonal carcinomas, using an immunohistochemical approach. Most of the normal germ cells, belonging to spermatogonial and primary spermatocytic classes, showed a strong nuclear positivity. In contrast, post-meiotic germ cells showed diffused cytoplasmic and sometimes also perinuclear localization of the signal. The vast majority of cells were also positive in eight seminomas, six embryonal cell carcinomas and one teratocarcinoma. In all seminomas, nuclei were either exclusively or preferentially labelled; whereas, the nuclear signal intensity decreased in parallel with the appearance of some cytoplasmic staining in embryonal carcinomas. In conclusion, these data suggest that the SpanX protein family is not exclusively expressed post-meiotically and that seminomas and embryonal carcinomas may originate from SpanX-positive carcinoma-in-situ cell.

Adult↗

PubMed2005

Experimental Chlamydia trachomatis infection causes apoptosis in human sperm.

BACKGROUND: Chlamydia trachomatis is responsible for a widespread sexually transmitted infection. In men, it is associated with a wide clinical spectrum causing infertility. Furthermore, C. trachomatis serovar E infection decreases motility and increases the number of non-viable sperm. No other effects of C. trachomatis have been reported on sperm despite the crucial role of DNA integrity for sperm function. The aim of this study was to investigate the effects of C. trachomatis on sperm apoptosis. METHODS: Sperm from eight normozoospermic men were incubated with increasing concentrations of C. trachomatis serovar E elementary bodies (EB) for 6 and 24 h. Sperm were then collected to evaluate phosphatidylserine (PS) membrane translocation and DNA fragmentation by Annexin V-propidium iodide staining, TUNEL assay and flow cytometry. RESULTS: After 6 h of incubation, C. trachomatis had no effect on the percentage of sperm showing PS externalization. However, a significant effect on this parameter was observed after 24 h. C. trachomatis also significantly increased the number of sperm with DNA fragmentation both after 6 and 24 h of incubation. CONCLUSIONS: C. trachomatis causes sperm PS externalization and DNA fragmentation. These effects may explain the negative direct impact of C. trachomatis infection on sperm fertilizing ability.

Apoptosis↗

PubMed2005

Patients with abnormal sperm parameters have an increased sex chromosome aneuploidy rate in peripheral leukocytes.

BACKGROUND: Patients with oligoasthenoteratozoospermia (OAT) and normal karyotypes have an increased sperm aneuploidy rate. This may be due to an altered intratesticular environment that affects the chromosomal segregation mechanism(s). Alternatively, it may be due to a generalized meiotic and mitotic abnormality. In this case, patients with abnormal spermatogenesis should also have an increased somatic cell aneuploidy rate. To test this hypothesis, we evaluated peripheral leukocyte aneuploidy rate in patients with spermatogenic impairment. METHODS: In all, 38 patients were enrolled, of whom 20 had OAT, 15 non-obstructive azoospermia and three Y chromosome (Yq) microdeletions (AZF). Eight healthy normozoospermic men with proven fertility were recruited as controls. Conventional karyotype analysis, AZF microdeletion evaluation and triple-colour FISH for chromosomes X, Y and 12 were conducted in all patients and controls. A total of 1000 lymphocytes were scored for each patient and control. RESULTS: All patients and controls had a normal karyotype. Sex chromosome aneuploidy rates in peripheral lymphocytes was significantly higher in patients with OAT (0.74+/-0.09%), azoospermia (1.15+/-0.15%) or Yq microdeleted (1.54+/-0.40%), compared with controls (0.15+/-0.03%) (P <0.05). CONCLUSIONS: Patients with OAT, azoospermia or Yq microdeletions had a slight, but significant, increase of sex chromosome aneuploidy rate in lymphocytes, suggesting the presence of a generalized defective cell division mechanism. In contrast with recent observations, Yq microdeletions do not seem to predispose to a higher number of malsegregation events in somatic cells compared with patients with azoospermia.

Adult↗

PubMed2005

Genetics of polycystic ovarian syndrome.

Polycystic ovarian syndrome (PCOS) is a reproductive system disorder characterized by irregular menses, anovulation, clinical and/or biochemical signs of hyperandrogenism (hirsutism and/or acne), ovarian micropolycystic appearance and metabolic abnormalities, such as hyperinsulinaemia and obesity. The aetiopathogenesis of this syndrome is not well known. Several pathogenetic hypotheses have been proposed to explain the full array of symptoms and signs, but with elusive results. A genetic abnormality causing PCOS is supported by the observation that different members of the same family are often affected, and about half of the sisters of PCOS women have elevated serum testosterone concentrations. Therefore, the presence of gene abnormalities in women with PCOS has been widely explored in the attempt to establish whether their mutations or polymorphisms may cause PCOS. The main genes evaluated are those involved in steroidogenesis, steroid hormone effects, gonadotrophin release regulation and action, insulin secretion and action, and adipose tissue metabolism. Despite the vast body of literature produced, none of the genes evaluated seems to play a key role in PCOS pathogenesis. It is likely that PCOS may represent the final outcome of different, deeply inter-related genetic abnormalities that influence each other and perpetuate the syndrome.

Adipose Tissue↗

PubMed2005

Low total normal motile count values are associated with increased sperm disomy and diploidy rates in infertile patients.

This study was undertaken to evaluate the possibility of identifying men at increased risk of sperm aneuploidy and diploidy on the bases of specific cut-off values of the total normal motile count (TNMC). Twenty-seven consecutive, unselected male patients referred to our Unit were studied: 11 patients with normal sperm parameters (group A) suffering from unexplained infertility and 16 infertile patients with abnormal sperm parameters (group B). Disomy rates for chromosomes 1, 4, 8, 12, 18, X and Y were ascertained for each patient by means of triple and double fluorescence in situ hybridization (FISH) experiments. Both univariate and multivariate statistical analyses by principal component analysis (PCA) were performed for comparisons between sperm aneuploidy rates and semen quality (TNMC). TNMC scores in the two groups were significantly different (23.5 x 10(6) and 1.52 x 10(6), in groups A and B, respectively, p = 0.00002). In general, higher sperm disomy rates were noted for all chromosomes in group B compared with group A. Statistical significance was observed for disomy 1, total disomy rate (3.36% vs. 1.38%), and diploidy (0.49% vs. 0.19%) (p < 0.01). For disomy 4 and 8, differences resulted close to significance. PCA clearly showed how independent variables were inter-related. Infertile men with TNMC < 2 x 10(6) (male factor) were found to be at increased risk for sperm aneuploidy and diploidy. Multivariate analysis by PCA resulted as a useful method to visualize the information of the data sets on a bi-dimensional plot considering all the patients and all the variables at the same time.

Adult↗

PubMed2005

Experimentally-induced hyperthyroidism is associated with activation of the rat hypothalamic-pituitary-adrenal axis.

OBJECTIVE: Previous studies on the effects of altered thyroid function on the secretion and metabolism of adrenocortical hormones suggest a degree of adrenocortical hyperactivity in hyperthyroidism. We have previously shown that experimentally-induced hyperthyroidism is associated with significant alterations in pituitary-adrenal responsiveness to synthetic ovine corticotropin-releasing hormone (oCRH) that are contingent upon the duration of the altered thyroid function. The purpose of this study was to assess the time-dependent effects of hyperthyroidism on the functional integrity of the hypothalamic-pituitary-adrenal (HPA) axis by in vivo stimulation of the hypothalamic CRH neuron and adrenal cortex. METHODS: The functional integrity of the HPA axis was examined in vivo in sham-thyroidectomized male Sprague-Dawley rats given placebo or in thyroidectomized rats given 50 mug of thyroxine every day for 7 or 60 days. Responses to insulin-induced hypoglycemia and IL-1alpha stimulation were used to assess the hypothalamic CRH neuron. Adrenocortical reserve was assessed in response to low-dose adrenocorticotropic hormone (ACTH), following suppression of the HPA axis with dexamethasone. Adrenal and thymus tissue weight, in addition to basal plasma ACTH, corticosterone and thyroid indices were also determined. RESULTS: Basal plasma corticosterone and corticosterone binding globulin (CBG) concentrations were significantly increased in short- and long-term hyperthyroid rats, and by 60 days, cerebrospinal fluid (CSF) corticosterone levels were significantly increased. Basal plasma ACTH levels were similar to controls. Although plasma ACTH responses to hypoglycemic stress and IL-1alpha administration in both short- and long-term hyperthyroidism were normal, corticosterone responses to the ACTH release during the administration of these stimuli were significantly increased. The adrenal reserve was significantly elevated in short-term hyperthyroidsim. Long-term hyperthyroidism, however, was associated with a significant reduction in adrenocortical reserve. A significant increase in adrenal weights and a decrease in thymus weights were observed in both short- and long-term hyperthyroidism. CONCLUSIONS: The available data confirms that hyperthyroidism is associated with hypercorticosteronemia, although the locus that is principally affected still remains unclear. Despite the sustained hyperactivity of the HPA axis, long-term experimentally-induced hyperthyroidism is associated with diminished adrenal functional reserve. The alterations in HPA function in states of disturbed thyroid function were found to be somewhat more pronounced as the duration of thyroid dysfunction increased.

Adrenal Glands↗

PubMed2004

Morphologically normal spermatozoa of patients with secretory oligo-astheno-teratozoospermia have an increased aneuploidy rate.

BACKGROUND: Normal morphology is a major criterion for selecting spermatozoa to be injected. Given that teratozoospermia is one of the most critical parameters associated with sperm aneuploidy, the purpose of this study was to evaluate the aneuploidy rate of morphologically normal spermatozoa of patients with oligo-astheno-teratozoospermia (OAT). METHODS: Ten patients with secretory OAT and six age-matched normozoospermic men with a normal karyotype were enrolled. After assignment to normal or abnormal category, the location of each spermatozoon was recorded using an electronic microstage locator. Slides were then subjected to triple-colour fluorescence in situ hybridization for chromosomes X, Y and 12. RESULTS: OAT patients had a lower number of morphologically normal and abnormal spermatozoa carrying the X chromosome, compared with normozoospermic men. They also exhibited increased XY and XX disomy rates. Morphologically abnormal spermatozoa from normozoospermic men also had an increased XX disomy rate compared with normally shaped spermatozoa obtained from the same men. The total sperm aneuploidy rate of morphologically abnormal spermatozoa of normozoospermic men was 4.4-fold higher than that of spermatozoa with normal morphology. The total aneuploidy rates of spermatozoa with normal or abnormal head shape from OAT patients were similar to each other and to that of abnormally shaped spermatozoa from normozoospermic men, but they were higher than the rate found in normally shaped spermatozoa of normal men. CONCLUSIONS: Normally shaped spermatozoa of OAT patients have an increased aneuploidy rate.

Adult↗

PubMed2004

Human follicular fluid stimulates the sperm acrosome reaction by interacting with the gamma-aminobutyric acid receptors.

OBJECTIVE: To evaluate whether gamma-aminobutyric acid receptors are involved in human sperm acrosome reaction induced by the follicular fluid (FF). DESIGN: Random selection of normal sperm samples. SETTING: Normal men in an university clinic of andrology. PATIENT(S): Men with normal sperm analysis parameters. INTERVENTION(S): None. MAIN OUTCOME MEASURE(S): Acrosome reaction on motile spermatozoa. RESULT(S): Follicular fluid stimulated the acrosome reaction dose-dependently. The effect of a maximally effective concentration of FF (30%, vol/vol) was significantly suppressed by bicuculline, a GABAA receptor antagonist, and saclofen, a GABAB receptor antagonist, added concomitantly. Each of the two antagonists used alone was devoid of effect. Because the GABAA receptor is linked to the chloride channel, we tested whether picrotoxin, a blocker of this channel, could modulate the effects of the FF. Picrotoxin alone did not have any effect on the acrosome reaction induced by the FF, whereas it had a significant suppressive effect if coincubated with saclofen. The acrosome reaction induced by the FF was also inhibited by picrotoxin plus verapamil, a calcium channel blocker, whereas verapamil alone had no significant effect. This suggested that both chloride and calcium ions mediated the acrosome reaction induced by the FF. CONCLUSION(S): The simultaneous blockade of GABAA and GABAB receptors suppressed the acrosome reaction induced by the FF. This finding suggested that GABA receptors play a physiologic role in sperm activation and shed further light on the mechanism of FF action on human sperm acrosome reaction.

Acrosome Reaction↗

PubMed2004

Normal expression of isoforms activating cyclic adenosine monophosphate responsive element modulator in patients with spermatid maturation arrest.

OBJECTIVE: To evaluate whether defective cyclic adenosine monophosphate responsive element modulator (CREM) expression is the causative factor of spermatid maturation arrest (SMA). DESIGN: Comparative evaluation of the testicular histology in patients with SMA or normal spermatogenesis. SETTING: University clinic of andrology. PATIENT(S): Azoospermic patients undergoing testicular biopsy. INTERVENTION(S): None. MAIN OUTCOME MEASURE(S): Expression of CREMtau in quantitative immunohistochemistry analysis of testicular biopsy samples. RESULT(S): Regular CREM expression was observed in the tubules with round, but not elongated, spermatids of patients with SMA (n = 9). Quantitative analysis showed that round spermatids of patients with SMA had a staining intensity similar to that observed in controls (n = 7). CONCLUSION(S): Lack of spermatid elongation was not due to defective CREM expression. Therefore, CREM did not play a pathogenetic role in the onset of SMA in humans.

Biopsy↗

PubMed2004

Inhibition of oocyte fertilization by assisted reproductive techniques and increased sperm DNA fragmentation in the presence of Candida albicans: a case report.

The effects of Candida albicans on sperm parameters and the outcome of infertility treatment are unclear. This report describes a lack of fertilization after assisted reproductive techniques and increased sperm DNA fragmentation in an infertile patient with male accessory gland infection due to Candida albicans. He had normal sperm parameters and, therefore, underwent conventional IVF for a female factor of infertility. No spermatozoa or only one spermatozoon per oocyte were found attached to the zona pellucida of the six mature oocytes retrieved. A new semen sample was then requested from the patient to perform intracytoplasmic sperm injection (ICSI) on the same oocytes, but again no fertilization resulted. Candida albicans was detected in the medium where spermatozoa were co-incubated with oocytes and subsequently in the urethral swabs. It did not have any detrimental effect on sperm parameters soon after ejaculation or following separation of motile spermatozoa by swim-up technique. Fertilization failure after assisted reproduction treatment was associated with an increased percentage of motile spermatozoa having chromatin packaging abnormalities, externalization of phosphatidylserine and DNA fragmentation. In conclusion, Candida albicans did not affect sperm parameters, but increased sperm chromatin packaging damage and apoptosis that might have caused fertilization failure after assisted reproduction treatment in this couple.

Adult↗

PubMed2004

Expression of SPANX proteins in human-ejaculated spermatozoa and sperm precursors.

The sperm protein associated with nucleus in the X chromosome (SPANX) gene family is constituted by only a few members, clustered at Xq27, encoding small proteins which range from 15 to 20 kDa. These proteins have been shown to be present both in mature spermatozoa and in tumours, such as melanoma and some leukaemias. We developed polyclonal sera in order to study the distribution of the protein in human-ejaculated spermatozoa and their precursors. A synthetic peptide was designed from a domain common to the SPANX protein family and polyclonal sera were raised in mice. Seven healthy volunteer men with normal sperm parameters were recruited and the expression of SPANX proteins was evaluated in spermatozoa and ejaculated sperm precursors by immunocytochemistry and immunofluorescence analyses. SPANX proteins, present in a large fraction (96%) of mature spermatozoa, were localized in the sperm head (39.2%), midpiece (22.8%) or in both sites (34.4%). Spermatids also showed the presence of SPANX proteins in their cytoplasm, although a significantly higher number of spermatids were SPANX-negative compared with spermatozoa. In conclusion, SPANX proteins are expressed in an elevated percentage of spermatids and mature spermatozoa. In the latter, they are preferentially located in the sperm head. The greater number of SPANX-negative spermatids observed could relate to their easier exfoliation from the seminiferous tubules.

Amino Acid Sequence↗

PubMed2003

Lower sperm aneuploidy frequency is associated with high pregnancy rates in ICSI programmes.

BACKGROUND: A large proportion of patients undergoing ICSI have been shown to have an increased sperm aneuploidy rate. This study was undertaken to evaluate the impact of sperm aneuploidy on ICSI outcome. METHODS: To accomplish this, 48 consecutive unselected male patients (median age 34 years) had their sperm aneuploidy rate evaluated in the same swim-up preparation used for ICSI. Chromosomes 8, 12, 18, X and Y were evaluated by fluorescence in-situ hybridization. Patients were divided into two groups (A and B) based on the sperm aneuploidy frequency in their sperm. Group A had values below and group B above the upper limit of normal [1.55%, determined in 14 healthy men (median age 25 years) with normal semen parameters by WHO 1999 criteria (control group)]. RESULTS: Group A consisted of 12 patients (25%) whose sperm aneuploidy rates fell below the cut-off value of the control group (median 1.25%; range 0.85-1.52). Group B consisted of the remaining 36 patients (75%), who had an elevated sperm aneuploidy rate (median 3.25%; range 1.64-23.60). Fertilization (93 versus 85%) and cleavage (100 versus 98%) rates were similar for both groups. Group A had significantly higher clinical pregnancy (75 versus 34%; P < 0.001) and implantation (34 versus 13%; P < 0.001) rates compared with group B. In addition, group A had a lower overall miscarriage rate (11.1 versus 38.9%). Other factors that affect pregnancy and implantation, such as patient age and conventional semen parameters, were similar for both groups. CONCLUSION: This study showed that chromosomally abnormal sperm have a negative impact on ICSI outcome.

Abortion, Spontaneous↗

PubMed2002

Antioxidant treatment with carnitines is effective in infertile patients with prostatovesiculoepididymitis and elevated seminal leukocyte concentrations after treatment with nonsteroidal anti-inflammatory compounds.

OBJECTIVE: To evaluate whether the association of antioxidants and anti-inflammatory compounds may be beneficial in treatment of patients with abacterial prostatovesiculoepididymitis (PVE) and elevated seminal leukocyte concentrations. DESIGN: Open, prospective, random study. SETTING: Academic research environment. PATIENT(S): Ninety-eight patients with PVE who had increased seminal leukocyte concentrations (>1 x 10(6) cells/mL). Carnitines (group A; n = 30) or nonsteroidal anti-inflammatory drugs (group B; n = 16) for 4 months; nonsteroidal anti-inflammatory drugs for 2 months, followed by treatment with carnitines for 2 months (group C; n = 26); or nonsteroidal anti-inflammatory treatment given concomitantly with carnitines (group D; n = 26) for 4 months. MAIN OUTCOME MEASURE(S): Semen variables, production of reactive oxygen species, and pregnancy outcome were evaluated before and after treatment and following a 3-month washout period. RESULT(S): Patients in group C had the highest reduction in production of reactive oxygen species associated with increased sperm motility and viability. Groups B and D experienced intermediate effects, and group A experienced the least effect. CONCLUSION(S): Antioxidant treatment with carnitines is effective in patients with abacterial PVE and increased seminal leukocyte concentrations if these patients have been pretreated with nonsteroidal anti-inflammatory drugs.

Adult↗

PubMed2002

Chromosome analysis of epididymal and testicular spermatozoa in patients with azoospermia.

Azoospermic patients can now father children once spermatozoa have been retrieved from the epididymis or the testis. However, there are concerns about the risk of chromosomal abnormalities since an increase in sperm aneuploidy rate has been reported in samples from patients with abnormal sperm parameters. The purpose of this study was therefore to evaluate the sperm aneuploidy and diploidy rates for chromosomes 8, 12, 18, X and Y in spermatozoa extracted from the epididymes (n=10) or the testes (n=6) of patients with azoospermia. Ejaculated spermatozoa of healthy men (n=14) served as control. Epididymal and testicular spermatozoa had an aneuploidy rate significantly higher than that found in ejaculated spermatozoa. The aneuploidy and diploidy rates of testicular spermatozoa were higher, but not significantly different, than those found in epididymal spermatozoa. This study has shown that azoospermic patients have an increased sperm aneuploidy rate. They should therefore be given appropriate genetic counselling before entering in-vitro fertilisation programs.

Adult↗