Klinefelter Syndrome Diagnosed by Prenatal Screening Tests in High-Risk Groups

PURPOSE: Klinefelter syndrome is a chromosomal disorder present in 1 out of 400 to 1,000 male newborns in Western populations. Two-thirds of affected newborns show a karyotype of 47,XXY. Few studies have examined the incidence of Klinefelter syndrome in Korea. The aim of this study was to investigate the incidence of Klinefelter syndrome by use of prenatal screening tests. MATERIALS AND METHODS: From January 2001 to December 2010, 18,049 pregnant women who had undergone a chromosomal study for fetal anomalies were included. For fetuses that were diagnosed as having Klinefelter syndrome, the patients' medical records were retrospectively reviewed. Both parents' ages, the reason for the chromosomal studies, and karyotypes were investigated. RESULTS: We found that 22 of 18,049 (0.12%) fetuses were diagnosed with Klinefelter syndrome. The incidence of this disorder in male fetuses was 22 of 9,387 (0.23%). Also, 19 of the newborns (86.4%) showed a karyotype of 47,XXY; the other newborns showed karyotypes of 48,XXY,+21; 48,XXY,+12[12]/46,XY[54]; and 47,XXY[6]/45,X[1]/46,XY[95]. The mean age of the mothers was 36.1 years, and 2 women had a past history of a Down syndrome pregnancy. Nine mothers had a normal spontaneous delivery, 9 mothers underwent artificial abortion, and 2 fetuses were spontaneously aborted. CONCLUSIONS: The incidence of Klinefelter syndrome as reported in this study is higher than in previous studies. Further studies with a broader population should be considered to confirm these results.

Effect of Testosterone Replacement Therapy on Bone Mineral Density in Patients with Klinefelter Syndrome

PURPOSE: Klinefelter syndrome (KS) is related to testicular insufficiency, which causes low testosterone levels in serum. Generally, sex hormone levels and bone mineral density (BMD) are lower in patients with KS than normal. We investigated the effects of testosterone replacement on serum testosterone levels and BMD in KS patients. MATERIALS AND METHODS: From December 2005 to March 2008, 18 KS patients with a 47, XXY karyotype were treated with initial intramuscular injections of long-acting testosterone undecanoate (Nebido(R), 1000 mg/4 mL) at baseline and second injections after six weeks. An additional four injections were administered at intervals of 12 weeks after the second injection. BMD was measured at the lumbar spine (L2-4), the left femoral neck and Ward's triangle, using dual energy X-ray absorptiometry. Medical histories, physical examinations and prostate specific antigen, hematology and serum chemistry were conducted for each patient. In addition, total testosterone and sex hormone-binding globulin levels were measured. RESULTS: Following testosterone replacement, mean serum total testosterone increased significantly from baseline (0.90 vs. 4.51 ng/mL, p<0.001), and total testosterone rose to normal levels after replacement in all patients. The mean BMD of the lumbar spine increased significantly (0.91 vs. 0.97 g/cm2, p<0.001). Similar increases of BMD were also observed at the femoral neck, but this increase was not significant. CONCLUSION: These findings suggest that testosterone replacement therapy may be effective in treating BMD deficiency in men with testosterone deficiency, especially those with Klinefelter syndrome.

Causes and classification of male infertility in Korea / 대한생식의학회지

OBJECTIVE: The aim of this study is to investigate the various causes of male infertility using multiple approaches. METHODS: Nine-hundred-twenty infertile male patients were analyzed at their first visit with one physician between January 1 and December 31, 2009. All patients were subjected to physical examination, semen analysis and azoospermic patients underwent hormonal testing, chromosomal tests, and testicular biopsy. Semen analysis was based on the definition of the World Health Organization. RESULTS: Among the 920 patients, 555 patients (60.3%) had semen results within the normal range, 269 patients (29.2%) within the abnormal range, and 96 (10.5%) were diagnosed with azoospermia. Varicoceles were diagnosed in 84 of the 555 normal-range patients (15.1%) and in 113 of the 269 abnormal-range patients (42.0%). Of the 96 patients with azoospermia, 24 patients (25%) were diagnosed with obstructive azoospermia, 68 patients (71%) with non-obstructive azoospermia, and 4 patients (4%) with retrograde ejaculation. CONCLUSION: Various causes of male infertility have been reported and diverse treatment methods can be adopted for each cause. In this regard, research must be conducted on a larger number of patients to accurately assess the various causes of infertility in Korean patients and to investigate various infertility treatment methods.

Causes of Obstructive Azoospermia and Outcome of Microsurgical Reconstruction / 대한남성과학회지

PURPOSE: To define the causes of obstructive azoospermia (OA) and evaluate the possibility and efficacy of microsurgical correction. MATERIALS AND METHODS: Sixty-seven patients diagnosed as OA with normal spermatogenesis preoperatively and initially planned to microsurgical vasoepididymostomy from December 2003 and November 2009 were retrospectively analyzed. Causes of OA were analyzed and patency rate and pregnancy outcomes of their female partners were measured. RESULTS: Thirty-one patients (46.3%) could not correct their OA because of obstruction of the distal vas deferens, epididymal atrophy and/or hypotrophy and vasal injury due to previous surgery. Among the 36 patients undergone microsurgical vasoepididymostomy (mean age of patients and their female partners were 32.9 and 31.3 years, respectively), 32 patients (88.9%) were corrected bilaterally and 4 patients (11.1%) unilaterally. The overall patency rate was 17 patients (47.2%); being 15 and 2 patients for bilateral and unilateral procedure, respectively. Among the 17 patients regained the patency after surgery, except 3 cases without followed up, 6 cases achieved natural pregnancy and also 6 cases achieved the pregnancy using the assisted reproduction. CONCLUSIONS: According to the affected point of reproductive tract, not all men with obstructive azoospermia were candidates for microsurgical reconstruction. However, reasonable outcomes were achieved in the microsurgical reconstruction cases and it should be primary therapeutic method in obstructive azoospermia. For those in whom reconstruction is not a viable option, surgical methods for sperm retrieval are available to have their own biological children.

Effects of Transobturator Adjustable Tape Sling Procedure on the Therapeutic Outcome in Patients with Stress Urinary Incontinence and Detrusor Underactivity / 대한배뇨장애요실금학회지

PURPOSE: To evaluate the outcome and efficacy of transobturator adjustable (TOA) tape sling operations on women with intrinsic sphincter deficiency (ISD) and/or detrusor underactivity (DU) combined with stress urinary incontinence (SUI). MATERIALS AND METHODS: This retrospective analysis comprised 60 TOA patients. 30 patients hadDU (Qmax < 15ml/s) and/or ISD (Valsalva leak point pressure;VLPP < 60cmH20) on the preoperative UDS and the rest only had SUI. I-QoL, visual analog scale (VAS), Patient's Perception of Urgency Severity (PPUS), and Self-Assessment/Sandvik Questions were performed before and 1 year after surgery. The mesh tension was controlled at 1 day after surgery. The objective cure rate was defined as no leakage using the cough test with a full bladder. RESULTS: Patients were divided into two groups: Group A:SUI with ISD and/or DU, n=30; Group B:only SUI without ISD and DU, n=30. The two groups showed a difference in Qmax and VLPP preoperatively. Objective success rates were 18 (60.0%) completely cured, 10 (33.3%) improved in Group A, and 23 (76.7%) completely cured, 7 (23.3%) improved in Group B. Three cases needed tape-tension adjustment due to urinary leakage one-day after surgery (2 in Group A, 1 in Group B). There was no postoperative urinary retention. CONCLUSIONS: After TOA for SUI with ISD and/or DU, 3 cases were needed tension adjustment after surgery. TOA procedures seem to be effective and safe, more clinical studies with long-term follow up are required for a definite conclusion.