OBJECTIVE: To investigate the association of genetic background between MTHFR C677T genotype and infertile females with polycystic ovarian syndrome. MATERIALS AND METHODS: We compared 86 infertile females with polycystic ovarian syndrome (PCOS) with 100 healthy fertile females with one or more offspring. Pyrosequencing analysis for MTHFR C677T variation was performed on polymerase chain reaction (PCR) product of study group. To validate pyrosequencing data of C677T variation for randomly selected 50 samples, we compared the pyrosequencing result with the PCR-RFLP (Restriction Fragment Length Polymorphism) result of MTHFR C677T genotype. RESULTS: The prevalence of the C677T mutant homozygous (TT) was significantly lower (p=0.0085) in females with PCOS (8.14%) than in fertile females (21.00%). MTHFR 677 TT genotype had a decreased risk (3.7-fold) of PCOS compared with wild type (MTHFR 677 CC). CONCLUSION: Our data support a role for MTHFR mutant homozygous (677 TT) genotype in reducing risk in Korean infertile females with Polycystic ovarian syndrome.
Female* ; Genotype ; Humans ; Korea* ; Oxidoreductases* ; Polycystic Ovary Syndrome* ; Polymerase Chain Reaction ; Prevalence

OBJECTIVE: The implantation failure after embryo-transfer (ET) is a major continuing problem in in vitro fertilization (IVF). This study was undertaken to determine the effectiveness of intravenous immunoglobulin for treatment of individuals experiencing repeated unexplained in vitro fertilization-embryo transfer (IVF-ET) failure. METHODS: A total of nine consecutive infertile patients who failed to become pregnant after previous IVF-ET replacing at least three or more normal developed embryos each were included in our study. During the subsequent new IVF-ET cycle, each women received intravenous immunoglobulin 500mg/kg before the embryo transfer. RESULTS: Only one implantation occurred. There were no remarkable side effects. A specific effect of intravenous immunoglobulin for patients with repeated IVF-ET failure could not be demonstrated. CONCLUSION: High-dose intravenous immunoglobulin may not be useful for patients with repeated failure of embryo transfer.
Embryo Transfer ; Embryonic Structures ; Female ; Fertilization in Vitro ; Humans ; Immunoglobulins*

Prenature ovarian failure is a condition causing amenarrhea, hypoestrogenism, and elevated genadotropins in women younger than 40 years. A karyotype should be performed as part of basic laboratory evaluation for all patients with premature ovarian failure and prodromal premature ovarian failure. Development of a malignancy in a dysgenetic gonad is of major concern. The presence of a fragment of the Y chromosome is thought to be a key to the oncogenic potential of these gonads. The search for the testicular determining factor(TDF) has engendered much confusion about which part of the Y chromosome plays a role in malignancy. This was initially postulated to be the H- Y antigen. More recent data, however, localize the area near the centromere of the Y Chromosome, on the long arm(Yq). Malignant potential is clearly not linked to the testicular determining factor itself(SRY). This is a critical point in clinical medicine. Feilure to display SRY or a closely related sequence does not rule out the presence of the segment of the Y chromosome postulated to be associated with the development of malignancies. We have experienced a case of premature ovarian failure with chtomosomal abnormality involving Y chromosome fragment. So we report this case with a brief review of literatures.
Centromere ; Clinical Medicine ; Female ; Gonadal Dysgenesis* ; Gonads* ; Humans ; Karyotype ; Primary Ovarian Insufficiency* ; Y Chromosome

Determmation of the chomosomal constitution of human spermatozoa has been camed out though the human-hamster interspecific in vitro fertilization(IVF) system. In recent years, the introduction of fluorescence in-situ hybridization(FISH) technique has provided an alternative approach to evaluate the cbmmosomal constitution of human spermatozoa. The nuclei of mature spermatozoa are highly condensed with interpmtamine disulphide bridges, therefore the success of FISH on interphase human spermatozoa relies on partial decondensation of the sperm chromatin. In early studies, dithioothreitol(DTT) has been known as an efficient decondensation agent. Since then, several different decondensation methods using D1T have been establisdhed, and in terms of decondensation, we were tried to fix the optimal decondensation protocol using DlT. In our study, the optimal concentration and treatment time were 1-mM and 30 min, respectively. We examined chromosome complements of human sperm to investigate the effect of paternal age on the hequency of nondisjunction in human sperm. We investgated sperm karyotypes ftom two diffaent age groups)28+/-0.5, 46+/-6), A minimum of 1000 spermatozoa for one patient were analyzed. The mean frequencies of YY, XX, XY, 21-disamy spermatozoa ware 0.04%, 0.45%, 0.40%, 0.45% respectively in young age group and 1.06%, 0.62%, 1.06%, 0.76% in old ages. The mean frequency of disomy spermatozoa was higher in old age poup compare with those of young age group.
Chromatin ; Chromosome Aberrations* ; Complement System Proteins ; Constitution and Bylaws ; Fluorescence ; Humans ; Interphase ; Karyotype ; Paternal Age ; Spermatozoa*

There are not much reports concerning with clinical results using frozen-thawed testivular sperm in ICSI program. It is speculated that the necessity of cryopreservation of testicular sperm to avoid repeating surgical procedure for obtaining sperm for ICSI. This study was carried out to confirm whether frozen-thawed testicular sperm could be fertilized and pregnancy could be achieved using embryos fertilized with frozen-thawed testicular sperm in ICSI program or not. Testicular sperm obtained from obstructive- or non-obstructive azoospermia patients were co-cultured for 3 days with Vero cells to improve sperm motility. By co-culturing with Vero cells for 3 days, O-ll% of sperm motility after thawing increased up to 8-42% after co-culturing. ICSI was performed using frozen-thawed, and co-cultured sperm with 66 oocytes obtained from 8 patients and 62 oocytes were survived and 49(79.0%) oocytes were fertilized normally. Embryo transfer was possible in 7 out of 8 patients, and pregnancy was achieved in 6 patients(85.7%). These results indicated that not only fresh testicular sperm but frozen-thawed testicular sperm can be used in ICSI program.
Azoospermia ; Cryopreservation ; Embryo Transfer ; Embryonic Structures ; Humans ; Oocytes ; Pregnancy* ; Sperm Injections, Intracytoplasmic* ; Sperm Motility ; Spermatozoa* ; Vero Cells

Aneuploidy results from nondisjunction in either the meiotic division of the parents or the early cleavage divisions of the affected individuals. The sex chromosomes show a wide range of viable aneuploidy than do the autosomes. The incidence of 47,XXY and 47,XYY children increases with maternal age, as does that of autosomal trisomies, whereas the incidence of 45,X children does not increase with maternal age. In the group of sex chromosome aueuploidies, the 47,XXY and 47,XYY conditions occur with nearly equal hequency at birth. Translocations between X or Y chromosomes and an autosome or between an X chromosome and the Y chromosome cause sterility in human males. It has been assumed that a translocation involving either(or both) of the sex chromosomes would interfere with inactivation of the XY bivalent and thaeby disturb spermatogenesis. We bave experienced a case of Y-autosome translocation in azoospermic patient. So we report this case with a brief review of literatures.
Aneuploidy ; Azoospermia* ; Child ; Humans ; Incidence ; Infertility ; Male ; Maternal Age ; Parents ; Parturition ; Sex Chromosomes ; Spermatogenesis ; Trisomy ; X Chromosome ; Y Chromosome

Polycystic ovary disease is a heterogenous endocrinopathy with many interacting causal factors. One potential such factor is chronic hyperinsulinemia. multiple, independent lines of evidence suppart the contention that chronic hyperinsulinemia causes ovarian hyperandragenism. This evidence includes: (1) mutations in the insulin receptor gene that cause severe hyperinsulinemia appear to be associated with ovarian hyperandrogenism, (2) insulin stimulates ovarian thecal and sttomal androgen seaetion in vitro, and (3) in some experimental models, manipulation of circulating insulin concentrations results in changes in circulating androgens. Although the association between hyperinsulinemia and hyperandrogenism remains to be fully explained at the molecular level, chronic hyperinsulinemia appears to be an important cause of hyperandrogenism. We have experienced a case of HAIR AN syndrome showing hyperandrogenism, insulin resistance and acanthosis nigricans in infertile patient. So we report this case with a brief review of literatures.
Acanthosis Nigricans ; Androgens ; Female ; Fibrinogen ; Hair* ; Humans ; Hyperandrogenism ; Hyperinsulinism ; Insulin ; Insulin Resistance ; Models, Theoretical ; Ovary ; Receptor, Insulin

Infertility, defined as 1 year of unprotected coitus without conception, affects approximately 10 to 15% for couples of reproductive age. Approximately 35% of these cases are attributable to male factor infertility. A major cause of male infertility is chromosome abnormality, such as 47 chromosomes with an XXY karyotype. Early surveys of infertile males showed that the incidence of major chromosome abnormality in infertile males in azoospermic patients. When patients are treated for male infertility, a chromosome analysis including a search for abnormality at the DNA level, should be performed. We have experienced a case of autosomal reciprocal translocation in azoospermic patient. So we report this case with a brief review of literatures.
Azoospermia ; Chromosome Aberrations ; Coitus ; DNA ; Family Characteristics ; Fertilization ; Humans ; Incidence ; Infertility ; Infertility, Male ; Karyotype ; Male

No abstract available.
Preimplantation Diagnosis*

Prenatal diagnoses were performed in 145 fetuses resulting from 73 singleton and 36 twin pregnancies, all established by intracytoplasmic sperm injection (ICS: amniocentesis in 108 patients and Chorionic villus sampling in one. The prenatal cytogenetic results were obtained from pregnancies after ICSI using ejaculated spermatozoa, epididymal spermatozoa, testicular spermatozoa and after the replacement of frozen-thawed embryos derived from ICSI. The Karyotypes were normal in 138 cases (95.2%) of the prenatal diagnoses and there were 2 cases (1.4%) de novo and 5 cases (3.4%) inherited chromosomal aberrations. The two cases of de novo abnormalities were: 46, XY, t(6;7)(q21;p22) and 47, XY, +21 (trisomy 21).
Amniocentesis ; Chorionic Villi Sampling ; Chromosome Aberrations ; Cytogenetic Analysis* ; Cytogenetics* ; Embryonic Structures ; Female ; Fetus* ; Humans ; Karyotype ; Pregnancy ; Pregnancy, Twin ; Prenatal Diagnosis ; Sperm Injections, Intracytoplasmic* ; Spermatozoa*