Michele Delfino

Improved human sperm recovery using superoxide dismutase and catalase supplementation in semen cryopreservation procedure.

The aim of this work was to evaluate the effects of ROS scavenger supplementation in human semen samples undergoing cryopreservation procedures.After screening out andrological pathologies, we selected 25 male partners of infertile couples with the following semen profile: volume ≥ 2.0 ml, normal viscosity, sperm count ≥20 × 106/ml, straight progressive motility (classes 1 and 2) ≥ 40% (Mazzilli, Rossi, Delfino and Nofroni (1999) Andrologia 31: 187–194), atypical forms ≤ 70%, WBCs < 1.0 times 106/ml.After liquefaction, standard semen analysis and the Hypoosmotic Viability Test (HVT) were carried out; the samples were then divided into 4 aliquots. The first was untreated as a control; 200 U/ml of superoxide dismutase (SOD) was added to the second, 200 U/ml of catalase to the third and both SOD (100 U/ml) and catalase (100 U/ml) were added to the fourth aliquot. Each aliquot was mixed (v/v) with TEST yolk buffer freezing medium (Irvine Scientific) and then frozen at −196°C. The percent recovery of progressive motile and swollen spermatozoa was evaluated after thawing.No significant variation in the recovery of progressive motility was seen in the aliquots with added SOD or catalase alone, compared to the control group. On the other hand, a significant improvement in sperm parameter recovery was seen in the aliquot with both SOD and catalase supplementation; perhaps because of their combined and simultaneous action on superoxide anion and hydrogen peroxide. These results suggest that, in some selected cases, SOD and catalase supplementation can contribute greatly to the prevention of sperm membrane lipid peroxidation by ROS and thus allow good sperm parameter recovery after freezing–thawing procedures.

Testicular adrenal rest tumors in patients with congenital adrenal hyperplasia: prevalence and sonographic, hormonal, and seminal characteristics.

Testicular adrenal rest tumors have been described in patients with congenital adrenal hyperplasia (CAH). The aim of this work was to (1) evaluate the prevalence of testicular adrenal rest tumors in patients with CAH; (2) study the hormonal profile; (3) define the sonographic features; (4) assess the seminal profile; and (5) initiate a longitudinal study on the possible role of corticotropin (ACTH) plasma levels in the induction and persistence of testicular adrenal rest tumors.

Survival of micro-organisms in cryostorage of human sperm

The authors describe the clinical application of semen cryostorage, survival of micro-organism during cryostorage procedures and the risk of cross-contamination.

Human semen hyperviscosity: prevalence, pathogenesis and therapeutic aspects

The aims of this study were (a) to determine the prevalence of subjects with semen hyperviscosity (SHV) in a large population of male partners of subfertile couples; (b) to identify any correlation between SHV and infections or inflammation of the genital tract; (c) to assess the effects of therapeutic approaches for treating SHV; and (d) to assess sperm kinetic parameters after successful treatment of SHV. A retrospective study of 1 833 male partners of subfertile couples was conducted. Next, clinical, seminal, bacteriological and ultrasound studies involving 52 subjects suffering from SHV were performed, and the SHV was classified as being mild (length of thread > 2 cm and <or= 4 cm), moderate (> 4 cm and <or= 6 cm) or severe (> 6 cm). The prevalence of SHV was observed in 26.2% (480) of the subjects, with 13.2% suffering from mild, 6.6% from moderate and 6.4% from severe SHV. Treatment was completely successful in only 27 subjects (52.0%), primarily in those who had mild basal SHV with a positive semen culture. In these subjects, progressive motility percentage, straight line velocity and linearity were significantly higher than pre-treatment levels. SHV is often found in subjects with subfertility. Pathogenesis was strictly related to infective/inflammatory factors in only 48.0% of cases; therefore, it is possible that biochemical, enzymatic or genetic factors have a role in this condition.

The impact of a diagnosis of couple subfertility on male sexual function

Aim: The aim was to study: a) the prevalence of sexual dysfunction in male partners of subfertile couples; b) the possible correlation between sexual dysfunction and seminal profile. Subjects and methods: Male partners (no.=171) of sub-fertile couples were studied, aged between 25 and 40 yr, attending the Andrology Unit of Sant’Andrea Hospital. All the subjects responded to a modified International Index of Erectile Function (IIEF) questionnaire, made up of 5 questions: 2 regarding erectile function, 1 concerning orgasmic function, 1 question on sexual desire, and 1 on satisfaction with intercourse. The questionnaire investigated both spontaneous sex for pleasure and sex intended to lead to pregnancy. The subjects underwent standard semen analysis, according to World Health Organization guidelines. Results: The data showed a disorder in sexual intercourse for reproductive purposes in 37 subjects (23.7%). Of these, only 14 (8.9%) also had problems with sex for pleasure. On the other hand, there was no significant variation in the prevalence of sexual dysfunction related to seminal profile. Conclusions: A diagnosis of subfertility represents a stressful situation which can reduce the pleasure of sex, especially in intercourse intended for reproductive purposes; this disorder in sexual activity does not seem to be directly correlated with awareness of the severity of the semen alterations.

Morphological sperm defects analyzed by light microscopy and transmission electron microscopy and their correlation with sperm motility

Objectives:  To compare sperm defects as assessed by light microscopy (LM) and transmission electron microscopy (TEM), and to correlate them with sperm motility.

Sexual dysfunction in diabetic women: prevalence and differences in type 1 and type 2 diabetes mellitus.

Background The aim of this work was to evaluate the impact of diabetes on female sexuality and to highlight any differences between sexuality in the context of type 1 and type 2 diabetes mellitus (DM). Methods The subjects selected were 49 women with type 1 DM, 24 women with type 2 DM, and 45 healthy women as controls. Each participant was given the nine-item Female Sexual Function Index questionnaire to complete. The metabolic profile was evaluated by body mass index and glycosylated hemoglobin assay. Results The prevalence of sexual dysfunction (total score ≤30) was significantly higher in the type 1 DM group (25/49, 51%; 95% confidence interval [CI] 18–31) than in the control group (4/45, 9%; 95% CI 3–5; P=0.00006); there were no significant variations in the type 2 DM group (4/24, 17%; 95% CI 3–4) versus the control group (P=0.630, not statistically significant). The mean total score was significantly lower in the type 1 DM group (30.2±6.9) versus the control group (36.5±4.9; P=0.0003), but there was no significant difference between the type 2 DM group and the control group (P=0.773). With regard to specific questionnaire items, the mean values for arousal, lubrication, dyspareunia, and orgasm were significantly lower only in the type 1 DM group versus the control group. The mean values for desire were reduced in type 1 and type 2 DM groups versus control group. Conclusion Type 1 DM is associated with sexual dysfunction. This may be due to classic neurovascular complications or to the negative impact of the disease on psychosocial factors. Larger and ideally longitudinal studies are necessary to better understand the relationship between DM and sexual dysfunction.

Impact of Cystic Fibrosis Transmembrane Regulator (CFTR) gene mutations on male infertility

Objective. The aim of this study was to evaluate the prevalence of most common mutations and intron 8 5T (IVS8-5T) polymorphism of CFTR gene in Italian: a) azoospermic males; b) non azoospermic subjects, male partners of infertile couples enrolled in assisted reproductive technology (ART) programs. Material and methods. We studied 242 subjects attending our Andrology Unit (44 azoospermic subjects and 198 non azoospermic subjects, male partners of infertile couples enrolled in ART programs). Semen analysis, molecular analysis for CFTR gene mutations and genomic variant of IVS8-5T polymorphic tract, karyotype and chromosome Y microdeletions, hormonal profile (LH, FSH, Testosterone) and seminal biochemical markers (fructose, citric acid and L-carnitine) were carried out. Results. The prevalence of the common CFTR mutations and/or the IVS8-5T polymorphism was 12.9% (4/31 cases) in secretory azoospermia, while in obstructive azoospermia was 84.6% (11/13 cases; in these, the most frequent mutations were the F508del, R117H and W1282X). Regarding the non azoospermic subjects, the prevalence of the CFTR and/or the IVS8-5T polymorphism was 11.1% (11/99 cases) in severe dyspermia, 8.1% (6/74 cases) in moderate dyspermia and finally 4.0% (1/25 cases) in normospermic subjects. Conclusions. This study confirms the highly significant prevalence of CFTR mutations in males with bilateral absence of the vas deferens or ejaculatory ducts obstruction compared with subjects with secretory azoospermia. Moreover, the significant prevalence of mutations in severely dyspermic subjects may suggest the possible involvement of CFTR even in the spermatogenic process. This could explain the unsatisfactory recovery of sperm from testicular fine needle aspiration in patients affected by genital tract blockage.

Testosterone replacement in 49,XXXXY syndrome: andrological, metabolic and neurological aspects

Summary We report the case of a 19-year-old boy, presenting several congenital malformations (facial dysmorphisms, cardiac and musculoskeletal abnormalities), mental retardation, recurrent respiratory infections during growth and delayed puberty. Although previously hospitalised in other medical centres, only psychological support had been recommended for this patient. In our department, genetic, biochemical/hormonal and ultrasound examinations were undertaken. The karyotype was 49,XXXXY, a rare aneuploidy with an incidence of 1/85 000–100 000, characterised by the presence of three extra X chromosomes in phenotypically male subjects. The hormonal/biochemical profile showed hypergonadotropic hypogonadism, insulin resistance and vitamin D deficiency. The patient was then treated with testosterone replacement therapy. After 12 months of treatment, we observed the normalisation of testosterone levels. There was also an increase in pubic hair growth, testicular volume and penis size, weight loss, homeostatic model assessment index reduction and the normalisation of vitamin D values. Moreover, the patient showed greater interaction with the social environment and context. Learning points In cases of plurimalformative syndrome, cognitive impairment, recurrent infections during growth and, primarily, delayed puberty, it is necessary to ascertain as soon as possible whether the patient is suffering from hypogonadism or metabolic disorders due to genetic causes. In our case, the diagnosis of hypogonadism, and then of 49,XXXXY syndrome, was unfortunately made only at the age of 19 years. The testosterone replacement treatment, even though delayed, induced positive effects on: i) development of the reproductive system, ii) regulation of the metabolic profile and iii) interaction with the social environment and context. However, earlier and timely hormonal replacement treatment could probably have improved the quality of life of this subject and his family.

Intratesticular Isolated Anechoic Areas Prevalence, Seminal Profile, and Longitudinal Study

Objective. The aim of this study was to evaluate the prevalence of intratesticular isolated anechoic areas (ITIAAs) in a large population, the seminal profile, and follow‐up of patients with ITIAAs. Methods. A total of 2223 patients underwent an andrologic examination and scrotal sonography. In the patients with ITIAAs, a hormonal profile was obtained, and screening for neoplastic markers was performed. In selected cases, standard semen analysis was performed. Finally, a longitudinal study was initiated. Results. The prevalence of ITIAAs was 2.7% (59 of 2223 cases). In 48 of 59 cases (81.4%), a single ITIAA was found, whereas in the other 11 cases (18.6%), multiple ITIAAs were detected. Among the 59 patients with ITIAAs, we observed concomitant epididymal anechoic areas (EAAs) in 25 (42.4% of cases), specifically in 19 of 48 cases with a single ITIAA and 6 of 11 cases with multiple ITIAAs. Regarding age, 91.5% (54 of 59 cases) of the ITIAAs were found in patients older than 30 years; concomitant EAAs were present in about 50% of the cases. In patients younger than 30 years, no EAAs were detected. The seminal profile showed reduced sperm motility percentages in the patients with ITIAAs and concomitant EAAs. The longitudinal study did not show any significant variation of ITIAA patterns; all neoplastic markers remained negative. Conclusions. An ITIAA is a pattern occasionally observed on sonography. The findings suggest that an ITIAA with a concomitant EAA could have a microtraumatic or inflammatory pathogenesis, whereas an ITIAA without a concomitant EAA in young patients could have a dysontogenetic origin.