Complex chromosome rearrangements (CCRs) are structural chromosomal rearrangements involving at least three chromosomes and more than two breakpoints. CCR carriers are generally phenotypically normal but related to higher risk of recurrent miscarriage and having abnormal offspring with congenital anomalies. However, most of CCR carriers are not aware of their condition until genetic analysis of either abortus or affected baby or parental karyotyping is performed. Herein, we present the case that CCR carrier patients can be identified by preimplantation genetic testing of preimplantation embryos. An infertile male patient with severe oligoasthenoteratozoospermia was diagnosed balanced reciprocal translocation, 46,XY,t(3;11) (p26;p14) at first. After attempting the first preimplantation genetic testing for structural rearrangement (PGT-SR) cycle, we found the recurrent segmental gain or loss on 21q21.3-q22.3 of five out of nine embryos. As a result of karyotype re-analysis, the patient’s karyotype showed a balanced CCR involving chromosomes 3, 11, and 21 with three breakpoints 3p26, 11p14, and 21q21. The patient underwent two PGT-SR cycles, and a pregnancy was established after the transfer of an euploid embryo in the second cycle. Amniocentesis confirmed that the baby carried normal karyotype without mosaicism. At 37 weeks gestation, a healthy girl weighting 3,050 g was born.

OBJECTIVE: We aimed to evaluate the psychometric properties of the IADL measure included in the Dementia Care Assessment Packet (DCAP-IADL) in dementia patients. METHODS: The study involved 112 dementia patients and 546 controls. The DCAP-IADL was scored in two ways: observed score (OS) and predicted score (PS). The reliability of the DCAP-IADL was evaluated by testing its internal consistency, inter-rater reliability and test-retest reliability. Discriminant validity was evaluated by comparing the mean OS and PS between dementia patients and controls by ANCOVA. Pearson or Spearman correlation analysis was performed with other instruments to assess concurrent validity. Receiver operating characteristics curve analysis was performed to examine diagnostic accuracy. RESULTS: Chronbach's alpha coefficients of the DCAP-IADL were above 0.7. The values in dementia patients were much higher (OS=0.917, PS=0.927), indicating excellent degrees of internal consistency. Inter-rater reliabilities and test-retest reliabilities were statistically significant (p<0.05). PS exhibited higher reliabilities than OS. The mean OS and PS of dementia patients were significantly higher than those of the non-demented group after controlling for age, sex and education level. The DCAP-IADL was significantly correlated with other IADL instruments and MMSE-KC (p<0.001). Areas under the curves of the DCAP-IADL were above 0.9. CONCLUSION: The DCAP-IADL is a reliable and valid instrument for evaluating instrumental ability of daily living for the elderly, and may also be useful for screening dementia. Moreover, administering PS may enable the DCAP-IADL to overcome the differences in gender, culture and life style that hinders accurate evaluation of the elderly in previous IADL instruments.
Activities of Daily Living* ; Aged ; Dementia* ; Humans ; Life Style ; Mass Screening ; Psychometrics ; ROC Curve

OBJECTIVE: To determine whether the presence of Y-chromosome microdeletion affects the outcome of in vitro fertilization (IVF) and intracytoplasmic sperm injection (ICSI) program. METHODS: Fourteen couples with microdeletion in azoospermic factor (AZF)c region who attempted IVF/ICSI or cryopreserved and thawed embryo transfer cycles were enrolled. All of the men showed severe oligoasthenoteratoazoospermia (OATS) or azoospermia. As a control, 12 couples with OATS or azoospermia and having normal Y-chromosome were included. Both groups were divided into two subgroups by sperm source used in ICSI such as those who underwent testicular sperm extraction (TESE) and those used ejaculate sperm. We retrospectively analyzed our database in respect to the IVF outcomes. The outcome measures were mean number of good quality embryos, fertilization rates, implantation rates, beta-hCG positive rates, early pregnancy loss and live birth rates. RESULTS: Mean number of good quality embryos, implantation rates, beta-hCG positive rates, early pregnancy loss rates and live birth rates were not significantly different between Y-chromosome microdeletion and control groups. But, fertilization rates in the Y-chromosome microdeletion group (61.1%) was significantly lower than that of control group (79.8%, p=0.003). Also, the subgroup underwent TESE and having AZFc microdeletion showed significantly lower fertilization rates (52.9%) than the subgroup underwent TESE and having normal Y-chromosome (79.5%, p=0.008). Otherwise, in the subgroups used ejaculate sperm, fertilization rates were showed tendency toward lower in couples having Y-chromosome microdeletion than couples with normal Y-chromosome. (65.5% versus 79.9%, p=0.082). But, there was no significance statistically. CONCLUSIONS: In IVF/ICSI cycles using TESE sperm, presence of Y-chromosome microdeletion may adversely affect to fertilization ability of injected sperm. But, in cases of ejaculate sperm available for ICSI, IVF outcome was not affected by presence of Y-chromosome AZFc microdeletion. However, more larger scaled prospective study was needed to support our results.
Avena ; Azoospermia ; Embryo Transfer ; Embryonic Structures ; Family Characteristics ; Fertilization ; Fertilization in Vitro* ; Humans ; Live Birth ; Male ; Outcome Assessment (Health Care) ; Pregnancy ; Retrospective Studies ; Sperm Injections, Intracytoplasmic ; Spermatozoa ; Y Chromosome*

To evaluate the outcomes of controlled ovarian hyperstimulation (COH)-in vitro fertilization (IVF) such as clinical pregnancy rate (CPR), implantation rate (IR) and live birth rate (LBR) for infertile patients with borderline ovarian tumor (BOT) after conservative treatment, 10 IVF cycles in five patients from January 1999 to July 2005 were analyzed. At the time of diagnosis with BOT, the mean age of patients was 30.0 yr (range, 22-40). For 8 cycles out of 10 attempted IVF cycles, except for 2 cancellation cycles, the mean number of oocytes retrieved was 5.6 (range, 2-16) with a mean fertilization rate of 74.4%. The CPR, IR, and LBR were 50.0% (4/8 cycles), 31.6% (6/19) and 50.0% (4/8 cycles) respectively. The mean follow-up period after COH-IVF initiation was 29.6 (range, 14-61) months. A gynecological oncologist followed all patients every 3 months during the first year and every 6 months thereafter. There was no recurrence during the follow-up period. Our results suggest that COH-IVF may be acceptable for infertile patients with BOT, especially in patients with early-stage BOT after conservative treatment.
Adult ; Embryo Transfer ; Female ; Fertilization in Vitro ; Humans ; Infertility, Female/*complications/*therapy ; Ovarian Neoplasms/*complications/pathology/*surgery ; Ovulation Induction/methods ; Pregnancy ; Pregnancy Complications, Neoplastic ; Prognosis ; Treatment Outcome

OBJECTIVES: This study was performed to evaluate the pregnancy rate following the transfers of frozen- thawed embryos which was derived from intracytoplasmic sperm injection (ICSI) using sperm obtained by ejaculated, testicular sperm extraction (TESE), and frozen-thawed testicular sperm extraction (t-TESE). METHODS: Frozen-thawed embryos were successfully transferred to the patients in 664 cycles among 695 cycles from January 1998 to December 2002, where ICSI was done with various origins of sperm. Subjects were divided into three groups according to the origin of sperm; ejaculated sperm group as a control (n=535), TESE group (n=98) and t-TESE group (n=62). After conventional ICSI, the supernumerary PN stage or developing embryos were cryopreserved by slow freezing protocol with 1, 2-propanediol as cryoprotectant. RESULTS: The survival rate of frozen-thawed embryos was 77.7% (2515/3236) in ejaculated sperm group, 76.6% (441/576) in TESE group and 83.9% (292/348) in frozen-thawed TESE group, respectively. The difference of survival rate of between t-TESE group and other two groups was statistically significant (p<0.01). The good embryo formation rate and positive beta-hCG rate was 46.3% (1164/2515), 28.8% (148/513) in ejaculated sperm group, 49.2% (217/441), 36.6% (34/93) in TESE group and 46.2% (135/292), 34.9% (22/63) in frozen-thawed TESE group, respectively. CONCLUSION: This study demonstrates that comparable pregnancy rate and implantation rate could be achieved after the transfer of frozen-thawed embryos following ICSI using various sources of sperm. As there was no statistically significant difference in pregnacy rate between ICSI with fresh testicular sperm and with frozen-thawed testicular sperm, the sequential cryopreservation of supernumerary testicular sperm and embryos may be a useful method for increasing pregnancy outcome in infertile couples with male factor.
Cryopreservation ; Embryonic Structures* ; Family Characteristics ; Female ; Freezing ; Humans ; Male ; Pregnancy ; Pregnancy Outcome* ; Pregnancy Rate ; Pregnancy* ; Sperm Injections, Intracytoplasmic* ; Spermatozoa* ; Survival Rate

OBJECTIVES: Klinefelter syndrome is the most common genetic cause of male infertility and presents with 47, XXY mainly or 46, XX/47, XXY mosaicism. It is characterized by hypogonadism and azoospermia due to testicular failure, however, sporadic cases of natural pregnancies have been reported. With the development of testicular sperm extraction (TESE) and intracytoplasmic sperm injection (ICSI), sperm can be retrieved successfully and ART is applied in these patients for pregnancy. It has been suggested that the risk of chromosome aneuploidy for both sex chromosome and autosome is increased in the sperms from 47, XXY germ cells. Considering the risk for chromosomal aneuploidy in the offspring, preimplantation genetic diagnosis (PGD) could be applied as a safe and more effective treatment option in Klinefelter syndrome. The aim of this study is to assess the outcome of PGD cycles by using FISH for sex chromosome and autosome in patients with Klinefelter syndrome. MATERIALS AND METHODS: From Jan. 2001 to Dec. 2003, PGD was attempted in 8 cases of Klinefelter syndrome but TESE was failed to retrieve sperm in the 3 cases, therefore PGD was performed in 8 cycles of 5 cases (four 47, XXY and one 46, XY/47, XXY mosaicism). In one case, ejaculated sperm was used and in 4 cases, TESE sperm was used for ICSI. After fertilization, blastomere biopsy was performed in 6~10 cell stage embryo and the chromosome aneuploidy was diagnosed by using FISH with CEP probes for chromosome X, Y and 17 or 18. RESULTS: A total of 127 oocytes were retrieved and ICSI was performed in 113 mature oocytes. The fertilization rate was 65.3+/-6.0% (mean+/-SEM) and 76 embryos were obtained. Blastomere biopsy was performed in 61 developing embryos and FISH analysis was successful in 95.1% of the biopsied blastomeres (58/61). The rate of balanced embryos for chromosome X, Y and 17 or 18 was 39.7+/-6.9%. The rate of aneuploidy for sex chromosome (X and Y) was 45.9+/-5.3% and 43.2+/-5.8% for chromosome 17 or 18, respectively. Embryo transfer was performed in all 8 cycles and mean number of transferred embryos was 2.5+/-0.5. In 2 cases, clinical pregnancies were obtained and normal 46, XX and 46, XY karyotypes were confirmed by amniocentesis, respectively. Healthy male and female babies were delivered uneventfully at term. CONCLUSION: The patients with Klinefelter syndrome can benefit from ART with TESE and ICSI. Considering the risk of aneuploidy for both sex chromosome and autosome in the sperms and embryos of Klinefelter syndrome, PGD could be offered as safe and more effective treatment option.
Amniocentesis ; Aneuploidy ; Azoospermia ; Biopsy ; Blastomeres ; Chromosomes, Human, Pair 17 ; Embryo Transfer ; Embryonic Structures ; Female ; Fertilization ; Germ Cells ; Humans ; Hypogonadism ; Infertility, Male ; Karyotype ; Klinefelter Syndrome* ; Male ; Mosaicism ; Oocytes ; Pregnancy ; Preimplantation Diagnosis* ; Prostaglandins D ; Sex Chromosomes ; Sperm Injections, Intracytoplasmic ; Spermatozoa

OBJECTIVE: To compare the pregnancy outcomes after in vitro fertilization with intracytoplasmic sperm injection (IVF-ICSI) between obstrucvtive and non-obstrucvtive azoospermia. METHODS: From January 1994 to December 2002, 524 patients with obstructive azoospermia (886 cycles) and 163 patients with non-obstructive azoospermia (277 cycles) were included in this study. Microsurgical epididymal sperm aspiration (MESA) or testicular sperm extraction (TESE) in obstructive azoospermia and TESE in non-obstructive azoospermia were perfomed to retrieve sperm, which was used for ICSI and then fertilized embryos were transferred. The results of ICSI-fertlization rate (FR), clinical pregnancy rate (CPR), clinical abortion rate (CAR) and delivery rate (DR)- were statistically analysed in obstructive versus non-obstructive azoospermia. RESULTS: There were no differences in the number of retrieved oocytes, injected oocytes for ICSI and oocyte maturation rate. FR was significantly higher in obstructive than non-obstructive azoospermia (71.7% vs. 61.1%, p<0.001). There was no difference in CPR per embryo transfer cycle. After pregnancy was established, however, CAR was significantly higher in non-obstructive than obstructive azoospermia (25.6% vs. 12.5%, p=0.004). DR per clinical pregnancy cycle was significantly higher in obstructive than non-obstructive azoospermia (78.0% vs. 64.4%, p=0.012). In the karyotype ananlysis of abortus, abnormal karyotypes were found in 75.0% (6/8) of obstructive and 55.6% (5/9) of non-obstructive azoospermia. CONCLUSION: Our data show significantly higher FR in obstructive than non-obstructive azoospermia. Though there was no differrence in CPR, CAR was significantly higher in non-obstructive than obstructive azoospermia. The abortion may be related to the abnormal karyotype of embryo, but further investigations are necessary to elucidate the cause of clinical abortion in azoospermia.
Abnormal Karyotype ; Abortion, Induced ; Azoospermia* ; Cardiopulmonary Resuscitation ; Embryo Transfer ; Embryonic Structures ; Female ; Fertilization in Vitro* ; Humans ; Karyotype ; Oocytes ; Pregnancy ; Pregnancy Outcome* ; Pregnancy Rate ; Pregnancy* ; Sperm Injections, Intracytoplasmic* ; Sperm Retrieval ; Spermatozoa

OBJECTIVES: To estimate the frequency of Y chromosome microdeletions in the Korean population of infertile men and to evaluate the relationship between microdeletion on the Y chromosome and clinical phenotypes of infertile men with idiopathic azoospermia and oligozoospermia. MATERIALS AND METHODS: Genomic DNA was extracted from blood samples collected from 330 infertile men attending the Infertility Clinic at Samsung Cheil Hospital, Korea. Six sequence tagged sites (STSs) spanning the azoospermia factor (AZF) regions of the Y chromosome were amplified by polymerase chain reactions (PCRs). RESULTS: Microdeletions on Y chromosome were detected in 35 (10.6%) of the 330 infertile men. Most of the microdeletions (91.4%) involved AZFb or AZFc. The high incidence of microdeletions were found in AZFc region (57.1%), but the low in AZFa (8.6%) and AZFb (5.7%). Larger microdeletions involving two or three AZF regions were detected in 28.6% of cases. All patients (6 patients) with deletion of AZFa region showed no germ cell phenotypes, Sertoli cell only syndrome or Leydig cell hyperplasia in histopathologic examinations. CONCLUSION: Microdeletions on the Y chromosome, especially, at AZFc/DAZ regions may be the major cause of azoospermia and severe oligozoospermia. We suggest that idiopathic infertile men have genetic counselling and microdeletion analysis on the Y chromosome before IVF-ET and ART program.
Azoospermia ; DNA ; Germ Cells ; Humans ; Hyperplasia ; Incidence ; Infertility ; Korea ; Male ; Oligospermia ; Phenotype ; Polymerase Chain Reaction ; Sequence Tagged Sites ; Sertoli Cell-Only Syndrome ; Spermatogenesis* ; Y Chromosome*

OBJECTIVES: To estimate the frequency of Y chromosome microdeletions in the Korean population of infertile men and to evaluate the relationship between microdeletion on the Y chromosome and clinical phenotypes of infertile men with idiopathic azoospermia and oligozoospermia. MATERIALS AND METHODS: Genomic DNA was extracted from blood samples collected from 330 infertile men attending the Infertility Clinic at Samsung Cheil Hospital, Korea. Six sequence tagged sites (STSs) spanning the azoospermia factor (AZF) regions of the Y chromosome were amplified by polymerase chain reactions (PCRs). RESULTS: Microdeletions on Y chromosome were detected in 35 (10.6%) of the 330 infertile men. Most of the microdeletions (91.4%) involved AZFb or AZFc. The high incidence of microdeletions were found in AZFc region (57.1%), but the low in AZFa (8.6%) and AZFb (5.7%). Larger microdeletions involving two or three AZF regions were detected in 28.6% of cases. All patients (6 patients) with deletion of AZFa region showed no germ cell phenotypes, Sertoli cell only syndrome or Leydig cell hyperplasia in histopathologic examinations. CONCLUSION: Microdeletions on the Y chromosome, especially, at AZFc/DAZ regions may be the major cause of azoospermia and severe oligozoospermia. We suggest that idiopathic infertile men have genetic counselling and microdeletion analysis on the Y chromosome before IVF-ET and ART program.
Azoospermia ; DNA ; Germ Cells ; Humans ; Hyperplasia ; Incidence ; Infertility ; Korea ; Male ; Oligospermia ; Phenotype ; Polymerase Chain Reaction ; Sequence Tagged Sites ; Sertoli Cell-Only Syndrome ; Spermatogenesis* ; Y Chromosome*

OBJECTIVE: ICSI with testicular sperm could achieve optimal fertilization and pregnancy. This study was performed to observe the influence on fertilization and pregnancy of motility of fresh testicular sperm and sperm extracted from frozen-thawed seminiferous tubules in obstructive azoospermia. MATERIALS ANDMETHODS: We analysed clinical outcome of ICSI using fresh testicular sperm and sperm extracted from thawed seminiferous tubules. The presence of motility were compared to determine the factor for optimal fertilization and pregnancy rates. RESULTS: In 316 cases of TESE-ICSI in obstructive azoospermia, ICSI with fresh testicular sperm (fresh sperm group) were 163 cases and ICSI with sperm testicular sperm extracted from frozen-thawed seminiferous tubule (thawed sperm group) were 153 cases. The fertilization rates were 71.3% and pregnancy rates were 32.5% in fresh sperm group, in thawed sperm group, 65.1% and 33.3% respectively. The fertilization and pregnancy rates of motile and non-motile testicular sperm were 72.9% and 33.6%, 50.0% and 18.2%, respectively (p<0.05). The fertilization and pregnancy rates of motile and non-motile sperm extracted from the thawed seminiferous tubule were 67.8% and 34.7%, 55.1% and 28.1%, respectively (p<0.05). The comparative of the results of ICSI using motile fresh testicular sperm and motile sperm extracted from thawed seminiferous tubule, fertilization and pregnancy rates were not significantly different (72.9% and 33.6%, 67.8% and 34.7%, respectively). CONCLUSION: These results suggest that successful pregnancy in TESE-ICSI treatment is influenced by the motility of fresh testicular sperm and sperm extracted from thawed seminiferous tubule in obstructive azoospermic patients.
Azoospermia ; Fertilization ; Humans ; Pregnancy Rate* ; Pregnancy* ; Seminiferous Tubules ; Sperm Injections, Intracytoplasmic ; Spermatozoa*