Screening for Y Chromosome Microdeletion in a Nonobstructive Azoospermic Male Patient with Allogeneic Bone Marrow Transplantation from His Sister

Genomic DNA of a patient diagnosed with nonobstructive azoospermia and with the history of allogenic bone marrow transplantation from his sister due to chronic myeloid leukemia was isolated from peripheral blood in order to screen Y chromosome microdeletions. 13 short tagged sites belonging to AZF a, b, and c loci were detected with multiplex polymerase chain reaction technique. Bands were determined in ZFX/ZFY wells, whereas no bands were determined in wells of other STS regions. DNA isolation was done from buccal mucosa smear to obtain genomic DNA from patient's own cells and multiplex polymerase chain reaction technique was performed again. Bands were seen in all wells of 13 STS regions. Y chromosome microdeletion was not detected in the patient. In conclusion, genomic DNA isolation in patients undergoing BMT should be done from patients' own cells

Current status of the surgical management of Peyronie's disease

Surgery is the standard treatment for patients in the chronic phase of Peyronie's disease. Reconstructive surgeries function by either shortening the convex side of the tunica albuginea (Nesbit procedure, Yachia technique and penile plication) or lengthening the concave side by incision of the plaque with subsequent grafting. Tunical shortening procedures are ideal for men with good erectile capacity, penile curvatures less than 60 and predicted postprocedural length loss of less than 20% of erect penis length. Tunical lengthening procedures with grafting are indicated in patients with severe penile length loss, curvatures greater than 60 and prominent hourglass deformities. Saphenous vein and tunica albuginea are the most commonly used autologous graft materials. Cadaveric or bovine pericardium and 4-layer small intestinal submucosa are promising nonautologous tissues. Penile implantation of a prosthesis is the standard procedure in men with erectile dysfunction who do not respond to conservative treatment. If residual penile curvature is less than 30 after implantation, no further treatment is required. However, residual curve of greater than 30 can be straightened with manual modeling. Additional procedures such as penile plication, the Nesbit procedure, or grafting can be performed if modeling fails to correct the residual deformity

Screening for Y ChromosomeMicrodeletion in a Nonobstructive Azoospermic Male Patient with Allogeneic Bone Marrow Transplantation from His Sister

Genomic DNA of a patient diagnosed with nonobstructive azoospermia and with the history of allogenic bone marrow transplantation from his sister due to chronic myeloid leukemia was isolated from peripheral blood in order to screen Y chromosome microdeletions. 13 short tagged sites belonging to AZF a, b, and c loci were detected withmultiplex polymerase chain reaction technique. Bands were determined in ZFX/ZFY wells, whereas no bands were determined in wells of other STS regions. DNA isolation was done from buccal mucosa smear to obtain genomic DNA from patient's own cells and multiplex polymerase chain reaction technique was performed again. Bands were seen in all wells of 13 STS regions. Y chromosome microdeletion was not detected in the patient. In conclusion, genomic DNA isolation in patients undergoing BMT should be done frompatients' own cells

Deterioration of Chronotropic Responses and Heart Rate Recovery Indices in Men With Erectile Dysfunction

Introduction: Erectile dysfunction (ED) and cardiovascular (CV) diseases share common risk factors and ED has been accepted as an early manifestation of CV disease. Exercise stress testing (EST) is used to evaluate CV functions in men with ED. Low exercise workload, a slower heart rate recovery (HRR) after exercise, and inability to increase heart rate during EST (chronotropic incompetence) are independent negative predictors of adverse CV outcomes. Aim: To assess the association among EST parameters, ED, and testosterone levels. Methods: The study population consisted of 41 patients with ED and 40 controls. All participants underwent treadmill EST to assess cardiac autonomic functions. HRR indices were calculated by subtracting 1st (HRR1), 2nd (HRR2), and 3rd (HRR3) minute heart rates during the recovery period from maximal heart rate. Total exercise duration, exercise capacity and chronotropic response, and plasma testosterone levels were evaluated. Erectile functions were evaluated with the Sexual Health Inventory for Men. Patients were divided into subgroups according to severity and duration of ED. Main Outcome Measures: Mean HRR1 (30.6 ± 11.9 vs 36.9 ± 9.9; P = .01), HRR2 (44.9 ± 12.4 vs 54.9 ± 7.8; P < .001), and HRR3 (50.1 ± 11.7 vs 63.0 ± 7.9; P < .001) were significantly lower in the ED than in the control group. Total exercise duration (9.4 ± 1.9 vs 10.9 ± 1.7 minutes; P < .001), exercise capacity (12.5 ± 1.9 vs 13.6 ± 1.4 metabolic equivalents; P = .004), and chronotropic response (0.88 ± 0.1 vs 1.0 ± 0.1; P < .001) were worse in the ED group. However, we found no association between severity and duration of ED and EST parameters. In addition, serum testosterone levels were significantly correlated with HRR1 (r = 0.36, P = .02) in men with ED. Conclusion: Our data suggested that cardiac autonomic functions are impaired in patients with ED. A weak correlation between cardiac autonomic dysfunction and low testosterone levels in patients with ED was noted. However, further studies are needed to elucidate the prognostic significance and clinical implications of impaired autonomic functions and testosterone replacement therapy in patients with ED. Kucukdurmaz F, Agar G, Resim S. Deterioration of Chronotropic Responses and Heart Rate Recovery Indices in Men With Erectile Dysfunction. Sex Med 2018;6:8–14

Cognitive, Affective Problems and Renal Cross Ectopy in a Patient with 48,XXYY/47,XYY Syndrome

Klinefelter syndrome is the most common sex chromosome abnormality (SCA) in infertile patients and 47,XXY genomic configuration constitutes most of the cases. However, additional Xs and/or Y such as 48,XXYY, 48,XXXY, and 47,XYY can occur less frequently than 47,XXY. Those configurations were considered as variants of Klinefelter syndrome. In this report, we present an infertile man with tall stature and decreased testicular volume. Semen analysis and hormonal evaluation supported the diagnosis of nonobstructive azoospermia. Genetic investigation demonstrated an abnormal male karyotype with two X chromosomes and two Y chromosomes consistent with 48,XXYY(17)/47,XYY (13). Additionally, the patient expressed cognitive and affective problems which were documented by psychomotor retardation and borderline intelligence measured by an IQ value between 70 and 80. Systemic evaluation also revealed cross ectopy and malrotation of the right kidney in the patient. The couple was referred to microtesticular sperm extraction (micro-TESE)/intracytoplasmic sperm injection (ICSI) cycles and preimplantation genetic diagnosis (PGD). To the best of our knowledge, this is the first report of combination of XYY and XXYY syndromes associated with cognitive, affective dysfunction and renal malrotation

Comparison of Two Different Methods Used for Semen Evaluation: Analysis of Semen Samples from 1,055 Men

The aim of this study was to evaluate whether there is a difference between gravimetrically and volumetrically measured semen samples and to assess the impact of semen volume, density, and sperm count on the discrepancy between gravimetric and volumetric methods. This study was designed in an andrology laboratory setting and performed on semen samples of 1,055 men receiving infertility treatment. Semen volume was calculated by gravimetric and volumetric methods. The total sperm count, semen density and sperm viability were also examined according to recent version of World Health Organization manual. The median values for gravimetric and volumetric measurements were 3.44 g and 2.96 ml respectively. The numeric difference in semen volume between 2 methods was 0.48. The mean density of samples was 1.01 +/- 0.46 g/ml (range 0.90-2.0 g/ml). The numeric difference between 2 methods gets higher as semen volume increases (p < 0.001). Gravimetric and volumetric semen volume measurements were strongly correlated for all samples and for each subgroup of semen volume, semen density and sperm count, with minimum correlation coefficient of 0.895 (p < 0.001). In conclusion, the gravimetric measurement provides higher results than volumetric one and numeric differences between 2 methods increase as semen volume increases. However, further studies are needed to offer the use of gravimetrical method, which was thought to minimize laboratory errors, particularly for a high amount of semen samples. (C) 2016 S. Karger AG, Base

Comparison of Two Different Methods Used for Semen Evaluation: Analysis of Semen Samples from 1,055 Men

The aim of this study was to evaluate whether there is a difference between gravimetrically and volumetrically measured semen samples and to assess the impact of semen volume, density, and sperm count on the discrepancy between gravimetric and volumetric methods. This study was designed in an andrology laboratory setting and performed on semen samples of 1,055 men receiving infertility treatment. Semen volume was calculated by gravimetric and volumetric methods. The total sperm count, semen density and sperm viability were also examined according to recent version of World Health Organization manual. The median values for gravimetric and volumetric measurements were 3.44 g and 2.96 ml respectively. The numeric difference in semen volume between 2 methods was 0.48. The mean density of samples was 1.01 +/- 0.46 g/ml (range 0.90-2.0 g/ml). The numeric difference between 2 methods gets higher as semen volume increases (p < 0.001). Gravimetric and volumetric semen volume measurements were strongly correlated for all samples and for each subgroup of semen volume, semen density and sperm count, with minimum correlation coefficient of 0.895 (p < 0.001). In conclusion, the gravimetric measurement provides higher results than volumetric one and numeric differences between 2 methods increase as semen volume increases. However, further studies are needed to offer the use of gravimetrical method, which was thought to minimize laboratory errors, particularly for a high amount of semen samples. (C) 2016 S. Karger AG, Base