Role of Genetic Testing in Male Infertility

Male-factor infertility is responsible for 30-55% of all infertility cases. The causes of male infertility include varicocele, endocrine disorders, genital tract infections, genetic disorders and idiopathic. It is estimated that genetic abnormalities contribute to 50% of male infertility. In daily practice, the diagnosis of male infertility has been based on history taking, relevant physical examination, hormone tests and basic semen analysis with a strong emphasis on the assessment of sperm concentration, motility, and morphology. Although recent development in assisted-reproductive technologies such as in vitro fertilization and intrauterine insemination increases the chance of clinical pregnancy and live birth, genetic counseling and testing should always beperformed whenever genetic risks are related to the cause of infertility for the identification of possible genetic abnormalities and to assess the risk of transmitting the genetic defects to future generations. Genetic defects affect male infertility by disrupting hormonal homeostasis, spermatogenesis, and sperm quality. These genetic defects include chromosomal abnormalities (e.g. Klinefelter Syndrome), Y chromosome deletions, and cystic fibrosis transmembrane conductance regulator gene mutations. The utilization of genetic counseling and testing is also important to predict the success of sperm retrieval in men with certain genetic abnormalities. Toname a few, genetic analysis at the chromosomal level (karyotyping), androgen receptor gene mutations test, cystic fibrosis test, and Y chromosome microdeletions analysis should be considered in the diagnosis of male factor infertility where genetic risks are present

Success Rate of Pregnancy after PESA/TESE and ICSI in Jakarta

Male infertility is a major problem in infertility. It can be caused by obstructive azoospermia. Sperm retrieval surgery (SRS) is the best approach to gain the sperm used Intra Cystoplasmic Sperm Injection (ICSI). However, the success rate of pregnancy after SRS and ICSI in Cipto Mangunkusumo National Hospital has not yet been defined. There were 123 patients had SRS with most of them performed PESA. Sperm were found in more than 77% of patients with most of them directly performed ICSI. Only 40 patients could be contacted with average age of husband, wife, and duration of marriage were 40.3 + 8.2, 33.2 + 5.1, 7.6 + 4.6 years old respectively. Most of patients were suffered from primary infertility. The success rate of pregnancy is 72.5%, with success rate of birth is 30.0%. There are 2 patients waiting for delivery date. Sperm retrieval surgery such as PESA/TESE is the best approach to gain sperm in obstructive azoospermia patient. The success rate of pregnancy after PESA/TESE and ICSI is high with almost half of patients have succeed in giving birth

COMPARISON OF THE EFFICACY AND SAFETY OF THE SUPINE AND PRONE POSITIONS IN PERCUTANEOUS NEPHROLITHOTOMIES FOR KIDNEY STONES

Objective: This study was designed to compare the efficacy and safety of the supine and prone positions in percutaneous nephrolithotomies (PCNLs) used for the treatment of kidney stones in Indonesian patients. Methods: This was a single-blinded randomized controlled trial of those patients undergoing PCNLs from February to May of 2018. There were 19 subjects in the supine group and 19 in the prone group for a total of 38 study subjects. The study outcomes that were compared included the operative time, hospital length of stay (LOS), stone-free rate, blood loss, conversion to open surgery, blood transfusion, and complications. These outcomes were evaluated using the Student’s t test and the chi-squared test. Results: There were no significant differences in the patient demographics or stone locations between the two groups. Additionally, the medians of the operative times, LOSs, blood losses, and blood transfusions were not statistically different. There was a higher stone-free rate in the supine group than in the prone group (70.0% vs. 47.4%, respectively, p = 0.151). More subjects were transfused in the supine group (30.0%) than in the prone group (15.8%), but this difference was not statistically significant (p = 0.292). The only complications were infundibular lacerations, which occurred in 20% of the subjects in the supine group and 15.8% of the subjects in the prone group (p = 0.732). Conclusion: This study showed that the supine and prone positions for PCNLs had similar efficacy and safety outcomes

Cut-off Value of Testosterone and FSH Level In Patient With Azoospermia

Follicle-stimulating hormone(FSH) and Testosterone are important for spermatogenesis. Increased serum FSH and decreased testosterone are related to abnormal spermatogenesis. Azoospermia can be classified as obstructive and non-obstructive azoospermia. This study aims to discover cut-off value of Testosterone and FSH in predicting obstructive and non-obstructive azoospermia. From 1064 patients, 120 fulfilled inclusion and exclusion criteria.  There were 66.7% in obstructive with 33.3% in non-obstructive group. No difference in terms of age (36,83 vs 36,62 y.o). Testosterone were 405.54 + 186.14 ng/dL vs 298.84 + 161.45 ng/dL (p=0.002) while FSH was 8,53 + 8,43 mIU/mL vs 20,12 + 11,89 mIU/mL (p<0.001) for obstructive and non-obstructive azoospermia respectively. Average testicular were 17.74 + 4.03 cc and 17.50 + 4.23 cc while in non-obstructive group are 12.97 + 5.18 cc and 13.37 + 5.31 cc for right and left testis respectively. FSH value above 10.36 mIU/mL has sensitivity 82.1% and specificity 79.5% for predicting non-obstructive azoospermia. Unfortunately, Testosterone could not be used in predicting azoospermia classification. Obstructive and non-obstructive azoospermia could be predicted using FSH but not testosterone serum level. Higher testosterone population should be used for further study

Lost to Follow-up Among Patients who Underwent Vasectomy reversal with Double Layer Microscopic Techniques in 2011-2015

Vasectomy already been accepted by the society as easy and effective method for male contraceptive. However, some patients want to restore their fertility status due to divorce or re-marriage cases. Techniques in performing vasectomy reversal are varying with their own advantages and disadvantages. One of the techniques is double layer microscopy vasectomy reversal. We evaluate the success rate of this technique based on the semen analysis. The success rate was good with around 98.5% patients with complete follow up had sperm in their semen analysis[MP1] . However, total success of follow up were very low (5 out of 19 patients) even though the cost of reversal vasectomy was quite expensive (around 3.000$USD). Lost to follow up rate of reversal vasectomy was 26%

PERCUTANEOUS NEPHROLITOTOMY ON THE MANAGEMENT OF CALYX INFERIOR STONES

Objectives: To compare the stone free rates of inferior calyceal stones with stone burden < 20 mm, 21-30 mm, and > 30 mm on post-percutaneous nephrolithotomy (PCNL) patients in Cipto Mangunkusumo Hospital. Material & method: The data was collected retrospectively from PCNL medical records in Cipto Mangunkusumo Hospital between January 2000 until May 2012. Patients were followed-up with plain abdominal radiography (BNO) or renal ultrasonography (USG). Stone free status was defined as no residual fragments on radiography or USG. Results: As many as 88 patients with inferior calyceal stones who underwent PCNL were included. Forty-three cases had stone burden < 20 mm, 34 cases with stone burden 21-30 mm, and 11 cases with stone burden > 30 mm. Overall, 81 (92%) cases were defined as stone free. On group < 20 mm, 21-30 mm, and > 30 mm; 41 (95%), 32 (94%), and 8 (73%) cases defined as stone free respectively (p = 0.485). Conclusion: PCNL is the primary modalityon the management of calyx inferior stones with high stone free rate. The stone free rate of these three groups showed no statistically significant difference.Keywords: Percutaneous nephrolithotomy, inferior calyx stone, stone free rate

Effects of Pipemidic Acid, Phenazopyridine HCL and Sodium Diclofenac on Pain Perception Following Endoscopic Urological Surgery: Double-blinded Randomized-Controlled Trial

Aim: to evaluate the analgesic effect, the side effects and the safety of analgesics following endoscopic urological procedure. Methods: eighty patients who underwent endoscopic urological surgery at Kardinah Hospital, Tegal from June to July 2015 were divided into four groups. The experimental group was administered analgesic for 4 days pipemidic acid (A) 400 mg bid, or phenazopyridine (B) 200 mg tid, or sodium diclofenac (C) 50 mg bid and the control (D) group was administered placebo tid for 4 days. The analgesic effects were assessed using Visual Analog Scale (VAS). Association between variables was assessed using Cramers V and Kruskall Wallis. Results: the endoscopic urological procedures consisted of 30 patients for URS, 6 patients for lithotripsy, 17 patients for TURP, 24 patients for removal JJ stent and 3 patients for cystoscopy. The mean age of group A, B, C and D (control) was 50.1 (13.7), 50.7 (14.8), 49.1 (13.4), and 49.6 (14.3) years, respectively, and follow-up period was 7 days. The VAS score in all experimental groups was less than control group on day 1 to 7 following endoscopic urological procedures (p0.05). Group A demonstrated a more favourable analgesic effect than B and C (p<0.05). No serious side effects were detected in any of the cases. Conclusion: we conclude that oral analgesics are effective for pain relief following endoscopic urological surgery. Pipemidic acid was found to have a superior analgesic effect than phenazopyridine HCl and sodium diclofenac

Efficacy Quotient of ESWL Piezolith Richard Wolf 3000 Machine in Patientswith Ureteral Stones in Dr. Cipto MangunkusumoNational Hospital 2008 - 2011

Extracorporeal shockwave lithotripsy (ESWL) is the most common method of ureteral stone management. Since 2008, RSCM has ben using ESWL piezolith 3000 richard wolf and efficacy quotient (EQ) value have not yet studied. The study aims was to determine the efficacy quotient (EQ) of ESWL using piezolith richard wolf 3000 machine for ureteral stone by analyzing free-stone rate with location of stones, number of stones, stone burden, stone opacity, obstruction and kidney function. This cross sectional study was carried out in January 2008-December 2011, with multivariate analytical study. Ninety five percent (n=113) of 119 patients were declared stone free after the first ESWL. EQ value was 0.89. Stone size was the correlated with stone free rate (p&lt;0.05). It is concluded that ESWL procedure using richard wolf piezolith 3000 machine patients had better EQ and better stone-free rate than previous reports using similar machines

Y-Chromosomal Microdeletion in Idiopathic Azoospermic and Severe Oligozoospermic Indonesian Men

Aim: to detect Y-chromosomal microdeletion in Indonesian men with azoospermia or severe oligozoospermia using multiplex PCR. Methods: we performed 2 multiplex PCR amplifications of the Azoospermia Factor (AZF) region in 71 men. Criteria for including a patient were fulfilled if they presented with azoospermia or severe oligozoospermia, with or without additional abnormalities of sperm motility or of head morphology, raised or normal levels of FSH, normal levels of LH and testosterone, and with no evidence of testicular tumors or other abnormalities. Five men participated as control persons. Results: partial deletion of AZFa was found in 11 men (15.49%), complete deletion of AZFb in 1 man (1.4%), and complete deletion of AZFc in 1 man (1.4%). The unspecific type of deletion was also detected, including the DBY gene in 2 men (2.81%), and partial deletion of both AZFa and AZFb in 2 men (2.81%). No AZF deletion was observed in the control probands. Related to the type of deletion, the AZFa and AZFb deletion showed spermatogenesis arrest in most tubules, while deletion of the DBY gene is associated with the sertoli cell only (SCO) syndrome. Conclusion: the frequency of partial deletion of AZFa was found to be relatively high in our center. The type of deletion is associated with the testicular histology

The Role of Varicocele Repair in Non-Obstructive Azoospermic Men: A Systematic Review

The outcomes of varicocele repair in non-obstructive azoospermic men remain the subject of controversy. Until now, small studies with small number of patients performed make it difficult to assess the efficacy of varicocele surgery in men with non-obstructive azoospermia. This review is performed to evaluate quality of the sperm among non-obstructive azoospermic men after varicocele repair.