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ABSTRACT: Background. Data of the literature demonstrated controversial results of a correlation between transsexualism and genetic mutations Aim. To evaluate the hormone and gene profile of M-F transsexual. Subjects and Methods: Thirty male-female transsexuals aged 24-39. Seventeen had already undergone sex reassignment surgery, 13 were awaiting. All subjects had been undergoing oestrogen and antiandrogen therapy. We studied hormones of the hypothalamus-pituitary-testicular axis, thyroid and adrenal profile, GH basal and after GHRH stimulation, IGF-1. The gene study analysed SRY, AR, DAX1, SOX9, AZF region of the Y chromosome. Results: Pre-surgery subjects had elevated prolactin, reduced testosterone and gonadotropins. Postsurgery subjects showed reduced androgens, a marked increase in LH and FSH and normal prolactin. Cortisol and ACTH were similar to reference values in pre- and post-surgery patients. There was a marked increase in the baseline and post-stimulation GH values in 6 of the 13 presurgery patients, peaking at T15. IGF-1 was similar to reference values in both groups, but one post-surgery patient, whose level was below the normal range. There were no polymorphisms in the amplified gene region for SOX9 and a single nucleotide synonimous polymorphism for DAX1. No statistically significant differences were seen in the mean of CAG repeats between controls and transsexual subjects. SRY gene was present in all subjects. Qualitative analysis of the AZFa, AZFb and AZFc regions did not reveal any microdeletions in any subject. Conclusions: This gender disorder does not seem to be associated with any molecular mutations of some of the main genes involved in sexual differentiation.
Journal of endocrinological investigation 01/2013; · 1.57 Impact Factor
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E Filimberti,
S Degl'innocenti,
M Borsotti,
M Quercioli,
P Piomboni,
I Natali,
M G Fino,
C Caglieresi,
L Criscuoli, L Gandini,
A Biggeri,
M Maggi,
E Baldi
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ABSTRACT: We report the results of the first three trials of an external quality control (EQC) programme performed in 71 laboratories executing semen analysis in Tuscany Region (Italy). At the end of the second trial, participants were invited to attend a teaching course illustrating and inviting to adhere to procedures recommended by WHO (V edition). Results of the first three trials of the EQC documented a huge variability in the procedures and the results. The highest variability was found for morphology (CV above 80% for all the trials), followed by count (CV of about 60% for all the trials) and motility (CV below 30% for all the trials). When results of sperm count and morphology were divided according to the used method, mean CV values did not show significant differences. CV for morphology dropped significantly at the third trial for most methods, indicating the usefulness of the teaching course for morphology assessment. Conversely, no differences were observed after the course for motility and for most methods to evaluate count, although CV values were lower at the second and third trial for the laboratories using the Burker cytometer. When results were divided according to tertiles of activity, the lowest mean bias values (difference between each laboratory result and the median value of the results) for count and morphology were observed for laboratories in the third tertile (performing over 200 semen analysis/year). Of interest, mean bias values for concentration dropped significantly at the third trial for low activity laboratories. In conclusion, lack of agreement of results of semen analysis in Tuscany is mainly because of the activity and the experience of the laboratory. Our study points out the importance of participating in EQC programmes and periodical teaching courses as well as the use of WHO recommended standardized procedures to increase precision and to allow the use of WHO reference values.
Andrology. 01/2013;
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ABSTRACT: Apolipoproteins have a unique role in lipoprotein metabolism regulation, aiding lipid transport and acting as a cofactor of the enzymes involved in metabolism. There are three co-dominant alleles, APOE*2, APOE*3 and APOE*4, which encode three protein isoforms, apoE2, apoE3 and apoE4. APOE*3 is the most frequent in all populations thus far investigated, ranging from 50 to 90%. Some studies have tried to resolve a genetic 'dilemma' by evaluating the cause of the frequency and survival of the three alleles. Genetic drift, migration or natural selection could explain the current distribution of APOE gene frequencies worldwide. If APOE*4 is the ancestral allele, APOE*3 must have offered a considerable selective advantage, perhaps consisting of a positive effect during the reproductive period. Given this, there is a need to understand if APOE gene polymorphism might affect reproductive capacity. Few studies have been conducted in this area, and they generally correlate APOE polymorphism with reproductive efficiency in terms of number of children. The aim of our study was to look for correlations between APOE polymorphism in humans and semen quality, to establish if APOE genotypes have any demonstrable effect on spermatogenesis. In conclusion, our data show that APOE polymorphism is not associated with semen quality, as it is present to a similar extent in both normal and impaired or absent spermatogenesis. This demonstrates once again that the use of number of children as an index of fertility is not indicative of real male reproductive capacity.
International Journal of Andrology 04/2012; 35(5):714-9. · 3.59 Impact Factor
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S. Marchiani,
L. Tamburrino,
L. Giuliano,
D. Nosi,
� V. Sarli, L. Gandini,
� P. Piomboni,
§ G. Belmonte,
§ G. Forti,
E. Baldi,
M. Muratori
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ABSTRACT: Sumoylation is a post-translational modification involved in the regulation of
several cell functions. Recent studies suggest its involvement in spermatogenesis,
but occurrence and function of SUMO (small ubiquitin-like modifier) in
mature spermatozoa remain unknown. We report the occurrence of several
SUMO1-conjugated proteins, in a range of 20–85 kDa, in ejaculated spermatozoa.
By cytofluorimetric analysis, we evaluated the percentage of SUMO1-positive
spermatozoa in 58 subjects undergoing semen analysis in our laboratory
and correlated the obtained values with semen parameters. We found that the
percentage of SUMO1-positive spermatozoa was inversely correlated with total
(r = )0.35, p < 0.01) and progressive motility (r = )0.29, p < 0.05). Such correlations
become stricter when only asthenospermic subjects were included in
the analysis (r = )0.58, p = 0.01 for progressive motility, n = 17) and were lost
in non-asthenospermic subjects. By immunofluorescence and immunoconfocal
fluorescence, we demonstrated that SUMO1 is mainly located in the nucleus
and, occasionally, in the midpiece of spermatozoa. Immunoelectron microscopy
as well as a long permeabilization protocol demonstrated a massive localization
of SUMO-1 in the nucleus. By using a fluorescent probe to distinguish
dead ⁄ live cells, we show that SUMO1 is mainly present in live spermatozoa. In
conclusion, sumoylation of human spermatozoa may be involved in the regulation
of motility.Sumoylation is a post-translational modification involved in the regulation of
several cell functions. Recent studies suggest its involvement in spermatogenesis,
but occurrence and function of SUMO (small ubiquitin-like modifier) in
mature spermatozoa remain unknown. We report the occurrence of several
SUMO1-conjugated proteins, in a range of 20–85 kDa, in ejaculated spermatozoa.
By cytofluorimetric analysis, we evaluated the percentage of SUMO1-positive
spermatozoa in 58 subjects undergoing semen analysis in our laboratory
and correlated the obtained values with semen parameters. We found that the
percentage of SUMO1-positive spermatozoa was inversely correlated with total
(r = )0.35, p < 0.01) and progressive motility (r = )0.29, p < 0.05). Such correlations
become stricter when only asthenospermic subjects were included in
the analysis (r = )0.58, p = 0.01 for progressive motility, n = 17) and were lost
in non-asthenospermic subjects. By immunofluorescence and immunoconfocal
fluorescence, we demonstrated that SUMO1 is mainly located in the nucleus
and, occasionally, in the midpiece of spermatozoa. Immunoelectron microscopy
as well as a long permeabilization protocol demonstrated a massive localization
of SUMO-1 in the nucleus. By using a fluorescent probe to distinguish
dead ⁄ live cells, we show that SUMO1 is mainly present in live spermatozoa. In
conclusion, sumoylation of human spermatozoa may be involved in the regulation
of motility.
International Journal of Andrology 12/2011; · 3.59 Impact Factor
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S. Marchiani,
L. Tamburrino,
L. Giuliano,
D. Nosi,
V. Sarli, L. Gandini,
P. Piomboni,
G. Belmonte,
G. Forti,
E. Baldi,
M. Muratori
[show abstract]
[hide abstract]
ABSTRACT: Sumoylation is a post-translational modification involved in the regulation of several cell functions. Recent studies suggest its involvement in spermatogenesis, but occurrence and function of SUMO (small ubiquitin-like modifier) in mature spermatozoa remain unknown. We report the occurrence of several SUMO1-conjugated proteins, in a range of 20–85 kDa, in ejaculated spermatozoa. By cytofluorimetric analysis, we evaluated the percentage of SUMO1-positive spermatozoa in 58 subjects undergoing semen analysis in our laboratory and correlated the obtained values with semen parameters. We found that the percentage of SUMO1-positive spermatozoa was inversely correlated with total (r = −0.35, p < 0.01) and progressive motility (r = −0.29, p < 0.05). Such correlations become stricter when only asthenospermic subjects were included in the analysis (r = −0.58, p = 0.01 for progressive motility, n = 17) and were lost in non-asthenospermic subjects. By immunofluorescence and immunoconfocal fluorescence, we demonstrated that SUMO1 is mainly located in the nucleus and, occasionally, in the midpiece of spermatozoa. Immunoelectron microscopy as well as a long permeabilization protocol demonstrated a massive localization of SUMO-1 in the nucleus. By using a fluorescent probe to distinguish dead/live cells, we show that SUMO1 is mainly present in live spermatozoa. In conclusion, sumoylation of human spermatozoa may be involved in the regulation of motility.
International Journal of Andrology 11/2011; 34(6pt1):581 - 593. · 3.59 Impact Factor
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ABSTRACT: Background: Correct histone/protamine replacement is an important stage in chromatin condensation during spermiogenesis in humans. There are two types of protamines: protamine 1 (P1) and the protamine 2 family (P2, P3 and P4), coded by the genes PRM1 and PRM2. Aim: We analyse the sequences and gene expression of PRM1 and PRM2 and their relationship with defective spermatogenesis. Materials and methods: Sequence analysis was carried out on 163 patients attending our laboratory for analysis of seminal fluid. Patients were divided into three groups: normozoospermic (53), teratozoospermic (60), and azoospermic (50). Gene expression was analysed in seven patients with azoospermia and one with cryptozoospermia. Results: Seven SNPs were identified: G54A, G102T and C230A for PRM1, and C246T, G288C, G298C and C373A for PRM2. For C230A, the CA genotype was present in 38% of teratozoospermic vs. 55% of normozoospermic and 64% of azoospermic patients; for C373A, CA was found in 37% of teratozoospermic vs. 47% of normozoospermic and 64% of azoospermic patients. In contrast, for G298C, GC was more common in the teratozoospermic (63%) than in the normozoospermic (49%) or azoospermic (48%) groups. These differences could suggest a greater susceptibility of these patients to abnormal sperm morphology. In five patients the levels of transcripts were reduced with respect to the control. Conclusion: These data suggest that premeiotic arrest is associated with extremely reduced protamine expression. New studies of both PRM1 and PRM2 and their mRNA expression could help us better understand the molecular mechanisms underlying the protamine transcription and translation processes.
Journal of endocrinological investigation 11/2011; · 1.57 Impact Factor
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ABSTRACT: Chronic prostatitis (CP) is one of the most common male urogenital diseases and a significant public health problem in industrialised countries. It is associated with a low quality of life and significant expense. Given the poor results achieved with antibiotics, scientific interest has turned to the use of natural substances with a known activity on prostate function. The aim of our study was to evaluate the effect of a new dietary supplement containing lycopene, epigallocatechin gallate, ellagic acid, selenium and zinc on semen parameters and on leucocyte concentration in seminal fluid and expressed prostate secretion (EPS) in patients with CP without infection [National Institute of Health (NIH) Category IIIA], in comparison with a control group with the same condition who did not undergo any treatment during the study period. Our data showed a statistically significant reduction in inflammatory parameters (leucocytes in seminal fluid and EPS) and a statistically significant improvement in progressive sperm motility and sperm morphology in patients treated with the supplement in comparison with the untreated group. Improvements were also seen in the pain score of the NIH-Chronic Prostatitis Symptom Index (CPSI), confirming that the reduced inflammation also resulted in a reduction in pain.
Andrologia 11/2011; 44 Suppl 1:672-8. · 1.55 Impact Factor
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S Marchiani,
L Tamburrino,
L Giuliano,
D Nosi,
V Sarli, L Gandini,
P Piomboni,
G Belmonte,
G Forti,
E Baldi,
M Muratori
[show abstract]
[hide abstract]
ABSTRACT: Sumoylation is a post-translational modification involved in the regulation of several cell functions. Recent studies suggest its involvement in spermatogenesis, but occurrence and function of SUMO (small ubiquitin-like modifier) in mature spermatozoa remain unknown. We report the occurrence of several SUMO1-conjugated proteins, in a range of 20-85 kDa, in ejaculated spermatozoa. By cytofluorimetric analysis, we evaluated the percentage of SUMO1-positive spermatozoa in 58 subjects undergoing semen analysis in our laboratory and correlated the obtained values with semen parameters. We found that the percentage of SUMO1-positive spermatozoa was inversely correlated with total (r = -0.35, p < 0.01) and progressive motility (r = -0.29, p < 0.05). Such correlations become stricter when only asthenospermic subjects were included in the analysis (r = -0.58, p = 0.01 for progressive motility, n = 17) and were lost in non-asthenospermic subjects. By immunofluorescence and immunoconfocal fluorescence, we demonstrated that SUMO1 is mainly located in the nucleus and, occasionally, in the midpiece of spermatozoa. Immunoelectron microscopy as well as a long permeabilization protocol demonstrated a massive localization of SUMO-1 in the nucleus. By using a fluorescent probe to distinguish dead/live cells, we show that SUMO1 is mainly present in live spermatozoa. In conclusion, sumoylation of human spermatozoa may be involved in the regulation of motility.
International Journal of Andrology 10/2010; 34(6 Pt 1):581-93. · 3.59 Impact Factor
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ABSTRACT: Infertile males sometimes bear structurally balanced chromosome aberrations, such as translocations and inversions, which involve both autosomes and sex chromosomes. The aim of this study was to evaluate genotype-phenotype correlations in a sample of infertile men with various types of Y chromosome abnormalities. In particular, we examined the effect of (i) balanced structural aberrations such as translocations between sex chromosomes and autosomes; (ii) unbalanced structural aberrations such as deletions or isodicentrics, both [idic(Yp)] and [idic(Yq)]. We studied 13 subjects bearing Y chromosome aberrations. Each patient underwent seminal fluid examination, andrological inspection, hormone study, testicular ultrasound, conventional and molecular cytogenetic analysis and study of Y chromosome microdeletions. Comparison of genotype and sperm phenotype in infertile patients with various Y chromosome aberrations revealed the key role of meiotic pairing defects in arresting spermatogenesis, both in the presence and in the absence of azoospermic factor microdeletions and cell mosaicism. The failure of meiosis and, in consequence, spermatogenesis may be a result of the failure to inactivate the X chromosome in the meiotic prophase, which is necessary for normal male spermatogenesis to take place.
International Journal of Andrology 10/2010; 34(5 Pt 1):453-60. · 3.59 Impact Factor
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ABSTRACT: Recombinant-FSH (rFSH) added to hCG at dose of 450 IU weekly is effective in inducing spermatogenesis in patients with hypogonadotropic hypogonadism (HH), but there are no data on the use of lower doses.
This observational retrospective study evaluated whether 150-225 IU of rFSH weekly were able to induce spermatogenesis in HH men who failed to start it with hCG alone.
Thirty-four patients with pre-pubertal onset HH (20-44 yr old) without adverse fertility factors were considered for this study. After hCG pre-treatment they received also either rFSH (Group 1) or highly purified urinary FSH (hpFSH) (Group 2) 75 IU sc 2 or 3 times weekly. Semen analysis was performed every 3 months during pre-treatment and the 1st yr of combined therapy. Patients were also invited to refer pregnancies in their partners during the subsequent 12 months.
Total sperm count/ejaculate did not show significant difference between 2 groups, while a significantly higher forward motility was observed in Group 1 (p<0.05). The median times to achieve sperm output thresholds (first sperm appearance, sperm concentration >1.5 or >5 mil/ml) were significantly lower in Group 1 (p<0.04, 0.03, and 0.001, respectively). A tendency to a shorter time to pregnancy was shown in partners of Group 1.
Our data indicate that lower rFSH week dose than that so far used was able to induce potentially fertilizing sperm output in HH men previously treated with hCG. The rFSH effects are comparable to those of hpFSH but with a trend to a faster outcome achievement.
Journal of endocrinological investigation 04/2010; 33(9):618-23. · 1.57 Impact Factor
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ABSTRACT: Nearly 70 years after its description, Klinefelter's syndrome (KS) remains a largely undiagnosed condition. In addition to its typical characteristics of increased follicle-stimulating hormone secretion and small and firm testes, the syndrome presents an extremely wide spectrum of phenotypes. This could be explained by the possible presence of chromosomal mosaicism, androgen receptor polymorphisms and related heterogeneous endocrine abnormalities. The varied but relatively mild physical abnormalities also explain why many patients do not receive clinical attention until adulthood, when they seek medical advice on small testes or infertility. Diagnosis is also hindered by the low awareness of the disease among health professionals. This paper aims to review the possible signs of KS at different stages of life that could help achieve an early (or at least earlier) diagnosis. It has been demonstrated that the early diagnosis of KS improves patients' quality of life and enables better medical treatment. To achieve this, it is crucial to increase both medical and general awareness of the disease, including through use of the media and patients' associations.
Molecular Human Reproduction 04/2010; 16(6):434-40. · 3.85 Impact Factor
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A Lenzi,
G Balercia,
A Bellastella,
A Colao,
A Fabbri,
C Foresta,
M Galdiero, L Gandini,
C Krausz,
G Lombardi,
F Lombardo,
M Maggi,
A Radicioni,
R Selice,
A A Sinisi,
G Forti
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ABSTRACT: Hypogonadotropic hypogonadism (HH), or secondary hypogonadism, is a clinical condition due to an impairment of the pituitary function, characterized by low testosterone plasma levels associated with normal or low FSH and LH plasma levels. An impairment of gonadotropin secretion and, therefore, a reduced efficiency of spermatogenesis was reported to be frequently associated to conditions different from the classical causes of secondary hypogonadism. These conditions (metabolic, endocrine and eating disorders, physical exercise etc.) have been associated with a non-classical form of HH that could be called "functional" HH (FHH). FHH differs from the classical one by the evidence that gonadotropin levels are in the low-normal range, but are inadequate for the testosterone levels, that often are also in the low-normal range. This commentary aims at reviewing knowledge on the forms of male HH in order to indicate and discuss clinical context, diagnostic and therapeutic approach in the less known non-classical form, i.e. FHH.
Journal of endocrinological investigation 12/2009; 32(11):934-8. · 1.57 Impact Factor
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ABSTRACT: Data on the effects of recombinant human GH (hGH) therapy during male puberty on future testis function are still inconclusive. The aim of this study was to investigate the long-term effects of recombinant hGH treatment on reproductive function in non-GH-deficient short stature boys. Eight boys with non-GH-deficient short stature, affected by constitutional delay of puberty or idiopathic short stature, were retrospectively studied after recombinant-hGH treatment to verify gonadal development, hormone production and semen quality. Auxological data, endocrinological/ andrological parameters and laboratory evaluation (GH, IGF-I, FSH, LH, testosterone, inhibin B) were assessed before treatment; after completion of pubertal development, the same parameters plus SHBG levels were evaluated and a seminal fluid examination was conducted (ejaculate volume, pH, sperm concentration, total sperm count, forward and total motility, morphology). All patients showed normal testicular volume at the final pubertal stage, with regular androgenization. Hormonal levels were within the normal adult range in all boys. Considering the immature reproductive system of these patients in comparison with adults, semen parameters (sperm count, motility, and morphology) were within almost normal limits, except in one patient. Although patients showed the wide fluctuation of semen values frequently observed at the end of puberty, the hypophysis-gonadal axis hormones were in the normal range in all adolescents. Pathological measurements of some seminal parameters were found in one patient only. This study suggests that recombinant hGH treatment has no detrimental effects on the development and maturation of male gonadal function in non- GH deficient short stature young patients.
Journal of endocrinological investigation 01/2008; 30(11):931-6. · 1.57 Impact Factor
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ABSTRACT: Semen is the major vehicle for HIV-1 infection as it contains free and cell-associated virions and infected cells. However, the presence of HIV-1 in spermatozoa has been a matter of debate, since the sperm cell fraction may contain somatic infected cells that jeopardize the attribution of the detected virus to the spermatozoa.
Spermatozoa from 12 HIV-1 seropositive subjects were purified by multilayered Percoll gradient followed by osmotic shock. Residual presence of non-seminal cells (NCS) in purified spermatozoa, was then evaluated by cytometric and molecular analysis. HIV-1 DNA was revealed by nested PCR and in situ PCR after sperm chromatin decondensation. DNA-fragmented ejaculated spermatozoa in semen of infected subjects were detected by terminal deoxynucleotidyl transferase-mediated dUDP nick-end labeling (TUNEL) analysis.
Purification procedure adopted allowed complete removal of NCS. On purified sperm cells, HIV-1 DNA was detected in 5 out of 12 subjects by nested-PCR. On crude semen of 10 out of 12 subjects, HIV-1 DNA was in situ detected in a small percentage of abnormal spermatozoa with a wide range of structural alterations. TUNEL analysis revealed an increased percentage of DNA-fragmented ejaculated spermatozoa in semen of infected subjects.
We report molecular evidence demonstrating that HIV-1 infected subjects can ejaculate small amounts of HIV-1 DNA-positive abnormal spermatozoa. Their possible role in HIV-1 sexual transmission remains to be clarified.
Human Reproduction 12/2007; 22(11):2868-78. · 4.47 Impact Factor
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E Baldini,
S Ulisse,
E Marchioni,
A Di Benedetto,
G Giovannetti,
E Petrangeli,
S Sentinelli,
R P Donnorso,
M G Reale,
M Mottolese, L Gandini,
A Lenzi,
M D'Armiento
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ABSTRACT: In the present study, we analysed the expression of Fas ligand (FasL) and its cognate receptor Fas in 14 seminomatous testicular germ cell tumours (TGCT) and six normal testicular tissues obtained following orchiectomy. Tissue samples have been processed to prepare either total RNA or protein extracts or fixed and embedded in paraffin for immunohistochemistry (IHC) experiments. Quantitative RT-PCR experiments demonstrated in TGCT a significant (p < 0.01) increase of the FasL mRNA expression of 21.1 +/- 5.4 fold, with respect to normal tissues. On the contrary, in the same cancer tissues, the levels of Fas mRNA were significantly (p < 0.01) reduced to 0.27 +/- 0.06 fold. These observations were confirmed in western blot experiments showing a significant increase of FasL and a concomitant decrease of Fas proteins in testicular cancer tissues, with respect to normal testis. Moreover, IHC experiments showed a strong FasL immuno-reactivity in six out of eight TGCT samples analysed, while Fas immuno-positivity was found in cancer cells of only two TGCT tissues. In addition, in all tumour samples, infiltrating lymphocytes were Fas positive. However, no correlation could be observed between Fas or FasL mRNA variations and clinical parameters such as patient's age, TNM stage or tumour size. We also compared the serum levels of soluble FasL (sFasL) of 15 patients affected by seminomatous TGCT, of four patients with non-seminomatous TGCT and six age-matched healthy males. No significant differences in sFasL serum level could be identified. In conclusion, our data demonstrated that the majority of seminomas are characterized by an increased expression of FasL and a concomitant reduction of Fas, with respect to human normal testis, and that sFasL serum level is not a tumour marker for patients affected by TGCT.
International Journal of Andrology 10/2007; 32(2):123-30. · 3.59 Impact Factor
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R Ciriminna,
M L Papale,
P G Artini,
M Costa,
L De Santis, L Gandini,
L Parmegiani,
G Ragni,
A Revelli,
L Rienzi, [......],
G D'Ambrogio,
L Diotallevi,
M Dusi,
M Filicori,
A R Genazzani,
G Giuffrida,
F Lombardo,
A Paffoni,
C Racca,
E Greco
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ABSTRACT: In 2004, a law regulating assisted reproduction techniques (ART) was passed in Italy. The new rules allow for the formation and transfer of a maximum of three embryos at one time, whereas embryo selection and embryo storage are prohibited. The aim of this study is to evaluate the impact of these restrictions on ICSI outcome in couples affected by severe male factor infertility.
Thirteen Italian ART Units were involved in this study. Data were collected on ICSI cycles performed during 2 years before (control group) and 2 years after (study group) the enforcement of the law. Only cases of obstructive azoospermia (OA), non-obstructive azoospermia (NOA) and severe oligoastenoteratozoospermia (OAT) (sperm count <or=1 x 10(6) per ml; normal forms <or=5% according to WHO) were included. Laboratory results (fertilization rate, cleavage rate and embryo quality) and clinical outcomes (clinical pregnancy rate, implantation rate, abortion rate) were compared between the two groups.
One thousand six hundred and forty ICSI cycles were examined. The control group included 843 cycles (51.4%), whereas the study group consisted in 797 cycles (48.6%). The restrictions imposed by the law significantly reduced the number of good-morphology embryos available for transfer (57.5 versus 50.1%; P < 0.001). In addition, the clinical pregnancy rate (32.6 versus 22.6%; P < 0.001) and the implantation rate (16.0 versus 12.3%; P< 0.05) per cycle were negatively affected by the enforcement of the law. In particular, dramatic reductions in the pregnancy rate (36.6 versus 15.5%; P < 0.001) and the implantation rate (17.8 versus 9.8%; P < 0.001) were observed in the NOA subgroup.
Limiting the number of treated oocytes to three per ICSI cycle significantly reduces the chance of transferring good quality embryos and thus achieving a pregnancy in cases of severe male factor infertility. NOA patients are particularly affected by this restriction imposed by the new Italian law.
Human Reproduction 10/2007; 22(9):2481-7. · 4.47 Impact Factor
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ABSTRACT: Cryopreservation of sperm is an extremely important issue in the field of male infertility as freezing can have detrimental effects on a variety of sperm functions, some of them not accessible to the traditional semen quality analysis. In this study, chromatin structure variations in human spermatozoa in semen were studied with the sperm chromatin structure assay (SCSA), both before and after cryopreservation. Samples were divided into two aliquots: the first was analysed without further treatment, while the second was stored in liquid nitrogen at -196 degrees C using standard cryopreservation techniques. The fresh and thawed aliquots were also assessed by light and fluorescence microscopy (after Acridine Orange staining, AO), and computer-assisted semen analysis (CASA) of motility. Overall sperm quality was found to deteriorate after cryopreservation. When thawed spermatozoa were subjected to an extra swim-up round, a general improvement in nuclear maturity was seen in post-rise spermatozoa.
Cell and Tissue Banking 02/2006; 7(2):91-8. · 0.96 Impact Factor
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ABSTRACT: Endocrine factors represent an important and potentially treatable cause of sexual dysfunction. The availability of a correct endocrinological diagnosis allows correct identification of most cases of sexual dysfunction in which the endocrine apparatus is involved. Not only the most frequent causes of endocrine sexual dysfunction, such as hypogonadism and hyperprolactinaemia, but almost all extra-gonadal endocrinopathies (hyper-and hypothyroidism, hyper- and hypocortisolism, steroidal secreting tumours, etc.) may have importance to a greater or lesser extent in sexual function. It is, therefore, necessary that the diagnostic process for sexual dysfunctions of an endocrine nature be as integrated and wide as possible, especially as such pathologies are normally extremely responsive to medical or surgical therapy.
International Journal of Andrology 01/2006; 28 Suppl 2:53-5. · 3.59 Impact Factor
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ABSTRACT: The aim of this study is to shed some light on the role of the Fas system in human semen, by investigating whether there is an association between the expression of the molecules regulating the Fas system [membrane-bound Fas ligand (mFasL), soluble Fas ligand (sFasL) and matrilysin, the metalloprotease cleaving mFasL to sFasL] and sperm parameters.
We investigated, by flow cytometric analysis, the presence of FasL on spermatozoa from normozoospermic and teratozoospermic subjects and, by western blot, the presence of sFasL and matrilysin in the seminal plasma of the same samples as well as on samples from azoospermic subjects. The enzymatic activity of matrilysin was examined by gel zymography.
We observed that sperm cells expressed mFasL in 22% of normozoospermic men, whereas it was absent from spermatozoa from teratozoospermic patients. Higher levels of sFasL and augmented enzymatic activity of matrilysin were found in azoospermic samples.
The presence of mFasL on sperm from normozoospermic men and its absence in pathological samples emphasize the role of the Fas system in human semen. Moreover, the presence of both sFasL and matrilysin in seminal plasma implies a fine regulation of the function of the Fas system and, consequently, of the apoptotic process in the human genital tract.
Human Reproduction 11/2005; 20(10):2814-20. · 4.47 Impact Factor
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ABSTRACT: Androgens play a pivotal role in the development of the male reproductive tract. The spermatogenesis requires high levels of intratesticular testosterone secreted by the Leydig cells. Testosterone exerts its action through the androgen receptor (AR), which is located both in the cytoplasm and in the nucleus of cells in the target tissue. Severe defects of the AR may result in abnormal male sexual development, while more subtle modifications can be a potential cause of male infertility. Low circulating levels of testosterone can be found in 20-30% of infertile men, but administration of testosterone or gonadotropins does not result in improved sperm production. Abuse of anabolic steroids is a frequent cause of male infertility, and substances such as endocrine disruptors can alter male fertility through an anti androgenic action.
Journal of endocrinological investigation 02/2005; 28(3 Suppl):51-5. · 1.57 Impact Factor
