Adolescence and andrologist: An imperfect couple.

OBJECTIVE: The aims of this research were to study: a) the prevalence of male adolescents, aged between 10 and 19 years of age, referred to our Unit for an andrological assessment; b) the reasons (stated and subsequently modified) for referral; c) the prevalence of clinically diagnosed diseases. MATERIALS AND METHODS: A total of 2.855 subjects, referred to the Andrology Unit for a first examination, were retrospectively studied. For each adolescent, a medical history was taken and an andrological physical examination was carried out. RESULTS: Prevalence was found to be 6.9% (197/2855). Subjects were divided into two groups according to age (A: ≤ 14 and B: ≥ 15 years). The original reason stated for their consultation was corrected by 11.7% of the subjects (23/197); this correction concerned almost all the Group B subjects (21/23 (91.3%) vs 2/23 (8.7%) of Group A; p < 0.01). Regarding sexual dysfunctions, a simple explanation of certain conditions reassured the subject in about 15% of the cases. Furthermore, the physical examination proved extremely useful, revealing clinical alterations in more than 60% of subjects. CONCLUSIONS: In conclusion, to date in Italy, the prevalence of adolescents among males referred to an Andrology Unit for assessment is very low. It is important to encourage adolescents to undergo andrological examination to enable identification of reproductive function and psycho-sexual disorders.

Erectile dysfunction in patients taking psychotropic drugs and treated with phosphodiesterase-5 inhibitors.

OBJECTIVES: The aim of this study was to assess the prevalence of patients with Erectile Dysfunction (ED) receiving psychotropic drugs, the impact of these drugs on hormonal profile, and the efficacy of PDE5-i in these patients. MATERIALS AND METHODS: We recruited 1872 patients referring for ED to our Andrology Unit. Assessment included serum testosterone, gonadotropins, TSH, prolactin, and PSA, and the IIEF-5 questionnaire for ED diagnosis. Inclusion criteria were age 21-75 years and IIEF-5 total score ≤ 21; exclusion criteria included hypogonadism, diabetes mellitus, previous prostatectomy, other medication intake, and ED diagnosis prior to psychotropic drug treatment. Efficacy was rated with the IIEF-5 (remission: total score ≥ 22). RESULTS: The prevalence of ED patients treated with psychotropic drugs since ≥ 3 months was 9.5% (178/1872), subdivided according to the drugs used into: Group A, 16 patients treated with atypical antipsychotics (9.0%); Group B, 55 patients with benzodiazepines (30.9%); Group C, 33 patients with antidepressant drugs (18.5%); and Group D, 74 patients with multiple psychotropic drugs (41.6%). Patients in Group A were significantly younger than other groups (p < 0.05). The hormonal profile presented only higher prolactin level in patients treated with antipsychotics, alone or in combination (p < 0.05). Overall, 146 patients received PDE5-i. Remission rate, after three months of treatment, was significantly higher in Group B compared to C and D groups (p < 0.05). CONCLUSIONS: A substantial portion of patients receiving psychotropic drugs show ED. Sexual performance in these patients benefits from PDE5-i. Age, effects of psychiatric disorders, psychotropic drugs, and PDE5-i treatment modality accounted for variability of response in this sample.

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.

Impact of long-term and short-term therapies on seminal parameters.

AIM: The aim of this work was: i) to evaluate the prevalence of male partners of subfertile couples being treated with long/short term therapies for non andrological diseases; ii) to study their seminal profile for the possible effects of their treatments on spermatogenesis and/or epididymal maturation. METHODS: The study group was made up of 723 subjects, aged between 25 and 47 years. Semen analysis was performed according to World Health Organization (WHO) guidelines (1999). The Superimposed Image Analysis System (SIAS), which is based on the computerized superimposition of spermatozoa images, was used to assess sperm motility parameters. RESULTS: The prevalence of subjects taking pharmacological treatments was 22.7% (164/723). The prevalence was 3.7% (27/723) for the Short-Term Group and 18.9% (137/723) for the Long-Term Group. The subjects of each group were also subdivided into subgroups according to the treatments being received. Regarding the seminal profile, we did not observe a significant difference between the Long-Term, Short-Term or the Control Group. However, regarding the subgroups, we found a significant decrease in sperm number and progressive motility percentage in the subjects receiving treatment with antihypertensive drugs compared with the other subgroups and the Control Group. CONCLUSIONS: In the management of infertile couples, the potential negative impact on seminal parameters of any drugs being taken as Long-Term Therapy should be considered. The pathogenic mechanism needs to be clarified.

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

OBJECTIVE: 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. METHODS: Eighteen patients affected by CAH, aged 21 to 41 years, were studied. These were all patients referred to our endocrinology unit for the first time to undergo a clinical evaluation. All of the patients were taking long-term cortisone acetate and fludrocortisone replacement therapy. The study included (1) a physical examination, (2) testis sonography, (3) a hormonal profile, (4) semen analysis. RESULTS: Sonography showed testicular adrenal rest tumors in 11 patients (61.1%); of these, 9 cases (50.0%) were bilateral, and 2 (11.1%) were unilateral. The diameter ranged from 4 to 38 mm. In 9 patients, the lesions were hypoechoic, whereas in 2, they were hyperechoic. High plasma ACTH levels were detected in all of the patients with tumors despite long-term therapy. Semen analysis found 2 cases of azoospermia and 6 cases of oligoasthenoteratozoospermia; the 3 remaining patients were normospermic. The preliminary longitudinal study has shown 3 patients with a disappearance or reduction of the tumors after 6 months of modified treatment. CONCLUSIONS: This study confirms the high prevalence of testicular adrenal rest tumors in patients with CAH and the major role played in its pathogenesis by high plasma ACTH levels.

Comparative study of seminal parameters between samples collected in 1992 and samples collected in 2010.

OBJECTIVE: The aim of this study was to conduct a comparative study of semen quality in two large populations; one evaluated in 1992 and another in 2010, in order to evaluate any possible decline in male fertility due, at least in part, to environmental factors. MATERIAL AND METHODS: A total of 701 subjects in 1992 (TOTAL group 1992) and a total of 626 subjects in 2010 (TOTAL group 2010) were enrolled in our Andrology Unit. Each group was subdivided into 3 subgroups: Subfertile, Pathology and Control. Standard semen analysis was performed using the Superimposed Image Analysis System, according to WHO guidelines 1987 (for TOTAL group 1992) and WHO guidelines 1999 (for TOTAL group 2010). RESULTS: The mean values of sperm number (concentration/ml as well as the total ejaculate) and progressive motility were significantly higher in TOTAL group 2010 than TOTAL group 1992. Atypical forms in TOTAL group 1992 semen samples were significantly lower than TOTAL group 2010. The mean age of TOTAL Group 2010 was significantly higher compared with TOTAL Group 1992. In particular, the mean age gap was more evident in Subfertile subjects. CONCLUSIONS: In conclusion, environmental factors have not determined a significant decline in seminal parameters in the past 18 years.

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.

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. METHODS: A cohort of 40 male partners of infertile couples was selected. Group 1 (n = 31) included subjects with motility >5 and <50%, group 2 (n = 9) included those with motility <5% and the control group consisted of 10 normospermic subjects. Semen analysis of morphological parameters was carried out by LM and TEM. RESULTS: A linear correlation between LM and TEM regarding head defects and excess residual cytoplasm (r = 0.87 and 0.90) was found, whereas there was a poor correlation between tail and midpiece anomalies (r = 0.46 and 0.21). No significant variations were detected by LM and TEM regarding sperm head defects and excess residual cytoplasm, whereas TEM showed a significantly greater percentage of tail and midpiece alterations compared with LM in groups 1 and 2, as well as controls (P < 0.05). The microtubular pattern '<9 + 2' represented the most frequent axonemal morphological alteration. CONCLUSIONS: TEM might represent an additional diagnostic tool in the presence of severe sperm hypomotility or absence of motility.

Retrograde ejaculation and abnormal hormonal profile in a subject under treatment with valproate and phenytoin.

Anti-epileptic drugs may have negative effects on sexual function and hormonal profile. The exact mechanisms involved, however, have yet to be completely understood. We report a case of ejaculation failure and abnormal hormonal profile in a patient affected by epilepsy. A 59-year-old man, under treatment with valproate and phenytoin for 15 years, complained of orgasmic an ejaculation over the previous 6 months. He was not affected by other relevant pathologies and he had not undergone pelvic surgery. We found spermatozoa in post-orgasmic urine, which confirmed our suspicion of retrograde ejaculation. The hormonal profile showed high levels of FSH, LH and, surprisingly, increased levels of total testosterone and SHBG. We hypothesized bladder sphincter inhibition and receptor alterations due to the anti-epileptic drugs.

The High Prevalence of Testicular Adrenal Rest Tumors in Adult Men With Congenital Adrenal Hyperplasia Is Correlated With ACTH Levels.

Introduction: The aims of this study were to determine the prevalence of testicular-adrenal rest tumors (T-ARTs) in patients with congenital adrenal hyperplasia (CAH) and to evaluate the related ultrasound (US) features, hormonal profiles, and semen parameters. Therefore, we attempted to understand the potential impact of adrenocorticotropic hormone (ACTH) on the persistence or disappearance of T-ART. Methods: We conducted a longitudinal cohort study including patients with CAH who were undergoing treatment with cortisone and, when indicated, fludrocortisone replacement therapy. We performed andrological examinations, US of the testis, hormone profiling, and semen analysis. Results: Of the 25 patients (mean ± SD age, 32.2 ± 7.5 years), T-ARTs were detected by US in 14 (56.0%) patients. The mean ± SD diameter of the lesions was 13.2 ± 6.8 mm. Among 3 (21.4%) patients, the lesions were observed in one testis, whereas both testes were affected in the remaining 11 (78.6%) patients. The lesions were hypoechoic in 12 (85.7%) patients and hyperechoic in 2 (14.3%). Plasma ACTH and 17-hydroxyprogesterone (17-OHP) levels were significantly higher in patients with T-ART than in patients without lesions (319.4 ± 307.0 pg/ml and 12.4 ± 2.7 ng/ml vs. 33.5 ± 10.7 pg/ml and 8.2 ± 1.8 ng/ml, respectively; p < 0.01). The mean values of sperm concentration and motility were significantly lower in patients with T-ART than in patients without lesions (12.1 ± 12.4 × 106 cells/ml and 18.4 ± 11.1% vs. 41.5 ± 23.2 × 106 cells/ml and 30.8 ± 15.4%, respectively; p < 0.05). Logistic regression analysis showed ACTH level as a significant predictor of T-ART (p < 0.05). In patients with T-ART, the dose of hydrocortisone was increased by ~25-30%, while the fludrocortisone treatment remained unchanged. After 6 months of steroid treatment, patients underwent US and hormonal evaluation. Disappearance and a reduction in T-ART were observed in 6 (42.9%) and 5 (35.7%) patients, respectively; a reduction in ACTH levels (from 319.4 ± 307.0 to 48.1 ± 5.1 pg/ml; p < 0.01) was reported. A significant correlation between ACTH level reduction and T-ART diameter reduction was observed (p < 0.5; r = 0.55). Conclusions: T-ARTs were detected in 56% of patients with CAH and were associated with impaired semen parameters. However, these lesions are potentially reversible, as demonstrated by the disappearance/reduction after adjustment of cortisone therapy and by the reduction in plasma ACTH level. Our study supports the importance of periodic US evaluation and maintenance of plasma ACTH levels within the normal range in men with CAH.

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

UNLABELLED: 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.

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.

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 4 cm and 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.

Human semen refrigeration at + 4 degrees C: bio-kinetic characteristics.

The aim of our study was to evaluate the bio-kinetic characteristics of human semen refrigerated for different periods and to compare the effects of refrigeration at +4 degrees C against cryopreservation of human sperm at -196 degrees C. Semen was obtained from 30 male partners of infertile couples (infertile subjects) with the following semen profile: sperm count >or=10 x 10(6)/ml; progressive motility >or=20%; atypical forms <70% and white blood cells <1.0 x 10(6)/ml. Fifteen normospermic subjects were also selected as controls (control subjects). The following tests were carried out on basal, refrigerated and cryopreserved sperm: a) sperm kinetic properties (by Superimposed Image Analysis System); b) the Hypoosmotic Viability Test (HVT) (combined Hypoosmotic Swelling and Viability Test). The results of the study showed that the percentage recovery of kinetic properties and of HVT were optimum for up to 48 h. After refrigeration for 72 h, a drastic decrease in straight motility recovery was observed. No significant differences were observed between cryopreservation and refrigeration at +4 degrees C for 48 h for motility or HVT recoveries in samples from control subjects. However, in infertile subjects, a significant decrease in straight progressive motility and HVT recoveries was observed in cryopreserved samples compared to those refrigerated for 48 h. Neither refrigeration nor cryopreservation led to the growth of pathogenic bacteria in any of the cases studied. Based on the above results, refrigeration could represent a useful alternative to the cryopreservation method.

Seminal profile of subjects with testicular microlithiasis and testicular calcifications.

Two hundred eighty-one male partners of infertile couples were studied to determine the prevalence of subjects with testicular microlithiasis (TM) or testicular calcifications (TC) to define the seminal profile of this population and to initiate a longitudinal study to evaluate the significance of TM and TC as predictive markers of cancer. The prevalence found was 4.6% and 3.9%, respectively, which is sufficiently high to merit careful research attention, although TM and TC do not appear to be pathogenic factors of dyspermia.