Vitamin B Status and Serum Homocysteine Levels in Infertile Women

Adequate vitamin B(2), vitamin B(6), folate and vitamin B(12) nutrition is known to be important for reproductive function in women of childbearing age. The purpose of this study was to evaluate serum vitamin B(2), vitamin B(6), folate and vitamin B(12) status and serum homocysteine levels in 115 women aged 33.2 +/- 4.0 years, who had been diagnosed with infertility, and 49 women aged 34.5 +/- 3.8 years having at least one born child. Total vitamin B(2) and vitamin B(6) intakes in infertile women were significantly lower than those in control. Serum vitamin B(2), vitamin B(6), folate and vitamin B(12) concentrations were significantly lower in infertile women than those in control and serum homocysteine levels were significantly higher in infertile women than those in control. Thirteen percent in infertile women and zero percent in control were assessed as hyperhomocysteinemic and there was a significant difference in the prevalence of hyperhomocysteinemia between infertile women and control. 41% infertile women were assessed as folate deficiency. Serum folate concentrations was negatively correlated with serum homocysteine of the infertile women and control. Total vitamin B2 intakes was negatively correlated with serum homocysteine of the infertile women and control. Total vitamin B6, folate intakes were negatively correlated with homocysteine of infertile women only. In conclusion, infertile women are needed to intake more B vitamins intakes. Furthermore researches are needed to estimate adequate B vitamin supplementation in infertile women.

A Case of Spontaneous Pregnancy in Patient with Premature Ovarian Failure Who Has a Y Chromosome / 대한산부인과학회잡지

Premature ovarian failure is a condition causing amenorrhea, hypoestrogenism, and elevated gonadotropins 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. Gonadal dysgenesis represents a wide spectrum of clinical phenotypes, gonadal structures that include the presence of at least one streak gonad, and a variety of X chromosome abnormalities and mosaicism. 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. Malignant potential is clearly not linked to the testicular determining factor itself (SRY). Failure 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. Pregnancy in premature ovarian failure with chromosomal abnormality is rare. Furthermore, the incidence of pregnancy in patient with Y chromosome is very rare. We have experienced a case of premature ovarian failure with chromosomal abnormality involving Y chromosome fragment. She has got pregnant spontaneously and gave birth to male baby but he was found to have the same karyotype as his mother. So we report this case with a brief review of literatures.

A Study of Lupus Anticoagulants and Anticardiolipin Antibodies in Patients with Infertility and Recurrent Spontaneous Abortion / 대한불임학회지

OBJECTIVE: To report the prevalence of lupus anticoagulants and anticardiolipin antibodies in patients with recurrent spontaneous abortion and infertility. MATERIAL AND METHOD: Lupus anticoagulants and anticardiolipin antibodies were analyzed by Diluted Russell's Viper Venom Test (DRVVT) and solid phase enzyme immunoassay, respectively. RESULTS: In 200 patients with infertility, there were 6 cases (3%) with positive lupus anticoagulants or anticardiolipin antibodies. Of these, 3 patients (1.5%) showed positive lupus anticoagulants and anticardiolipin antibodies, respectively. In 120 patients with recurrent spontaneous abortion, there were 13 cases (10.8%) of positive lupus anticoagulants or anticardiolipin antibodies. Of these, one patient (1%) showed lupus anticoagulants and 12 patients (10%) showed anticardiolipin antibodies. But in two groups, there was no cases with positive lupus anticoagulants and anticardiolipin antibodies. CONCLUSION: Lupus anticoagulants and anticardiolipin antibodies are definite cause of recurrent spontaneous abortion. There has been a speculation that they might be associated with infertility and repeated IVF failures. But it was found that the role of lupus anticoagulants and anticardiolipin antibodies in these cases are not clear.

A Case of Kallmann Syndrome Conceived by Administration of Gonadotropin / 대한산부인과학회잡지

Pulsatile secretion of GnRH from the hypothalamus is a prerequisite for both the initiation and maintenance of the reproductive axis in humans. Failure of this episodic GnRH secretion results in the clinical syndrome of hypogonadotropic hypogonadism. Deficient GnRH secretion may occur in isolation (idiopathic hypogonadotropic hypogonadism: IHH), in association with anosmia (Kallmann syndrome), or as a result of a variety of structural and functional lesions of the hypothalamic pituitary axis. The familial occurrence of hypogonadotropic hypogonadism associated with anosmia, color blindness, synkinesia, and mental defect is the classic Kallmann syndrome. Affected individuals respond readily to pulsatile administration of exogenous GnRH, and clearly this is the most physiologic approach to ovulation induction. For women not seeking pregnancy, replacement therapy with exogenous estrogen and progestin is indicated. We have experienced a case of Kallmann syndrome which was conceived by administration of gonadotropin. So we report this case with a brief review of literatures.

A Case of Azoospermia Associated with Inversion of Chromosome 1 / 대한산부인과학회잡지

Chromosomally derived sterility has long been recognized. A review of the literature of somatic chromosome investigations in infertile males has shown that 13.7% of azoospermic males and 4.6% of oligozoospermic males have an abnormal karyotype. In the first group, sex chromosome abnormalities predominate (mainly 47,XXY), whereas in the latter, autosome anomalies (i.e. Robertsonian and reciprocal translocations) are the most frequent. A similar review on meiotic studies revealed that meiotic chromosome anomalies can explain male infertility in 4.3-40.4% of patients. Recently, fluorescent in-situ hybridization studies on spermatozoa from infertile men were published; it was suggested that both X-Y pairing and pairing of the autosomes were impaired, resulting in spermatogenic disruption. It is estimated that there are 2,000 genes that regulate spermatogenesis, most of these being present on the autosomes, but there are approximately 30 genes on the Y chromosome. In general, autosomal genes that regulate spermatogenesis are concerned with regulation of metabolic processes in other cells in the body as well as in the cells of spermatogenesis, whereas Y genes are not essential for vital functions related to reproduction. To be able to provide proper counseling for those couples whose male infertility can now be treated by intracytoplasmic sperm injection, it is suggested that clinical investigations should include mitotic and meiotic studies, an analysis of the chromosome content of individual spermatozoa and a DNA analysis of blood and spermatozoa to detect partially deleted Y chromosome material. We have experienced a case of azoospermia associated with inversion of chromosome 1. So we report this case with a brief review of literatures.

A Case of Globozoospermia Conceived by Intracytoplasmic Sperm Injection / 대한산부인과학회잡지

Human sperm are not only pleomorphic but also tend to show large numbers of obvious abnormalities that may be associated with infertility. It is known that the greater the numbers of abnormalities present in each sperm (teratozoospermic index) relates closely to abnormalities in sperm function and the presence of infertility. The variation in morphology that may be seen among human sperm involve the head, midpiece and tail. An oval head is deemed to be normal but many shape and size variations can be seen in an ejaculate, and these include large, small or tapering heads. Amorphous heads are now known to be associated with chromosomal anomalies and a sperm may even show the presence of a double head. Another anomaly of sperm morphology that is occasionally seen is the abnormality known as globozoospermia. In this condition, the sperm head lacks an acrosome and, as a consequence, the head of each spermatozoon becomes rounded. We have experienced a case of globozoospermia which was conceived by intracytoplasmic sperm injection. So we report this case with a brief review of literatures.

The Analysis of Interrelationship between Homocysteine and Methylenetetrahydrofolate Reductase Mutation in Patients with Recurrent Spontaneous Abortion / 대한불임학회지

OBJECTIVE: To analyze the interrelationship between homocysteine and methylenetetrahydrofolate reductase (MTHFR) mutation in patients with recurrent spontaneous abortion. MATERIAL AND METHOD: Homocysteine and MTHFR mutation were tested by fluorescent polarizing immunoassay and PCR-RFLP method, respectively. RESULTS: In patients with homocysteine level less than 5 mmol/L, there was no case of normal group but there were four cases of heterozygosity and one case of homozygosity. In patients with homocysteine level 5~10 mmol/L, the number of normal, heterozygosity and homozygosity group were eleven, eighteen and eight, respectively. In patients with homocysteine level 10~15 mmol/L, the number of normal, heterozygosity and homozygosity group were four, one and one, respectively. In patients with homocysteine level more than 15 mmol/L, there was no case of normal and heterozygosity group but there were two cases of homozygosity. CONCLUSIONS: Hyperhomocysteinemia due to MTHFR mutation is a cause of recurrent spontaneous abortion. And there was a significant relationship between homocysteine and MTHFR mutation.

Clinical Consideration of Obese Infertile Women / 대한불임학회지

OBJECTIVE: To analyze the clinical characteristics of obese infertile women. MATERIAL AND METHOD: Height, weight, body mass index, menstrual pattern, glucose, insulin, glucose / insulin ratio, dehydroepiandrosterone sulfate (DHEA-S), testosterone, free testosterone and plasminogen activator inhibitor (PAI-1) of 15 obese infertile women were tested. RESULTS: Of 15 obese infertile women, the number of diabetes mellitus, hyperinsulinemia, and insulin resistance was 2 (13%), 2 (13%), 2 (13%), respectively. The incidence of increased DHEA-S, testosterone, and free testosterone was 7 (47%), 1 (7%), 6 (40%), respectively. Notably, all patients showed increased PAI-1. CONCLUSIONS: Obesity is associated with infertility as well as many kinds of health problems. Obesity is closely related to insulin resistance and it also causes hyperandrogenism. Increased PAI-1 is one of the important causes of thrombophilia. Consequently, in the workup of obese infertile patient, many aspects of health problems should be considered.

Polymorphisms of 5,10-Methylenetetrahydrofolate Reductase (MTHFR C677T and A1298C) Gene in Recurrent Spontaneous Abortion / 대한불임학회지

OBJECTIVE: Previous studies have suggested that hyperhomocysteinemia and methylenetetrahydrofolate reductase (MTHFR C677T) mutations are associated with increased risk of recurrent spontaneous abortion (RSA). Recently, a second site polymorphism in MTHFR, 1298A-->C, which changes a glutamic acid into an alanine residue, was shown to be associated with a decreased enzyme activity. We tested whether the variant alleles of MTHFR C677T and A1298C are risk factor (biomarker) for RSA. MATERIALS AND METHODS: We analyzed DNA from a case-control study in the Korean DNA was extracted from blood samples of 118 patients with RSA and 123 healthy fertile patients as the controls. MTHFR variant alleles were determined by a PCR-restriction fragment length polymorphism assay. RESULTS: We found no evidence for an association between 677TT genotype and risk of RSA (OR=1.95, 95% CI=0.84~4.50, p=0.12). However, the MTHFR 1298AC (OR=0.36, 95% CI=0.20~ 0.63, p=0.0004) and 1298AC+CC (OR=0.35, 95% CI=0.20~0.61, p=0.0002) genotypes were lower among 118 RSA cases compared with 123 controls, conferring a 2.8-fold decrease in risk of RSA, respectively. Moreover, the combined genotypes of MTHFR 677CC/1298AC (OR=0.30, 95% CI= 0.10~0.88, p=0.029) and 677CT/1298AC (OR=0.77, 95% CI=0.60~0.99, p=0.043) also showed significantly lower risk than those with MTHFR 677CC/1298AA type. CONCLUSION: MTHFR 1298AC, MTHFR 677CC/1298AC and 677CT/1298AC genotypes may represent genetic markers for the protection of RSA at least in Korean women.

A Study of Luteinizing Hormone in Patients with Infertility and Recurrent Spontaneous Abortion / 대한불임학회지

OBJECTIVE: To evaluate luteinizing hormone(LH) in patients with infertility and recurrent spontaneous abortion. MATERIAL AND METHOD: LH was tested by solid phase immunoradiometric assay based on monoclonal and polyclonal anti-LH antibodies. RESULTS: Of 100 infertile patients, the number of less than 5 mIU/ml, 5~10 mIU/ml, greater than 10 mIU/ml in LH level was 67(67%), 22(22%), 11(11%), respectively. Of 100 patients with recurrent spontaneous abortion, the number of less than 5 mIU/ml, 5~10 mIU/ml, greater than 10 mIU/ml in LH level was 79(79%), 18(18%), 3(3%), respectively. There was a significant difference between patients with infertility and recurrent spontaneous abortion only in the group with LH level greater than 10 mIU/ml(p=0.325). CONCLUSIONS: High LH in the follicular phase is known to decrease pregnancy rate and increase abortion rate. But in this study the incidence of high LH in patients with recurrent spontaneous abortion was low. On the contrary, there was a significant increase of LH in infertile patients. So recurrent spontaneous abortion does not seem to be related to high LH level.

A Case of Diamnionic Monochorionic Monozygotic Twin Which was Conceived by In Vitro Fertilization / 대한산부인과학회잡지

Monozygotic twinning is a relatively rare event in vivo conception, being estimated to occur in 0.42% of all birth. The underlying mechanism for monozygotic twin formation is the division of the embryo early in its development. Separation of cells may theoretically occur before or after inner cell mass formation. The incidence of monozygotic twinning following assisted reproduction techniques is higher than the commonly accepted incidence after in vivo conception. Patients at particular risk of monozygotic twins are those aged > 35 years and those who had manipulation techniques for assisted fertilization. Hence, it seems prudent to counsel these patients about the potential obstetric complications of monozygotic multiple gestations prior to the initiation of their treatment.

The Study of Antithrombin III Deficiency in Patients with Recurrent Spontaneous Abortion / 대한불임학회지

OBJETIVE: To analyze the antithrombin III deficiency in patients with recurrent spontaneous abortion. MATERIALS AND METHOD: The blood samples were tested by chromogenic assay to evaluate the activity of antithrombin III. RESULTS: There was only one case of antithrombin III deficiency. This patient experienced one neonatal death after delivery and one FDIU (fetal death in utero). And also this patient showed a lupus anticoagulant and the prolongation of PTT. CONCLUSIONS: Women with recurrent miscarriage who have no obvious identified cause should consider hematologic screening. Antithrombin III deficiency could be a cause of recurrent spontaneous abortion. But the incidence is very rare in Korean patients.

A Case of the Carrier of Reciprocal Translocation Which was Inherited from Patient with Recurrent Spontaneous Abortion / 대한산부인과학회잡지

A balanced translocation in a parent may produce unbalanced gametes leading to abortions or defective liveborn children, or interval infertility. It also may give rise to a balanced gamete resulting in a balanced carrier, or it may produce a cytogenetically normal gamete. The incidence of balanced chromosomal translocations in couples with multiple abortions was reported as 0% to 31%. This wide variation is related to the heterogeneous criteria used for patient selection. Because parents with balanced chromosomal rearrangements and history of only repeated abortions have a significant chance with each pregnancy of having a child with normal or balanced karyotype, the usual criteria for investigation include at least two abortions or reproductive losses. There is no evidence from several reported series that increasing the number of losses to three or more leads to any change in the yield of chromosomal rearrangements detected.

A Case of Pregnancy Using Recombinant Follicle Stimulating Hormone and Gonadotropin Releasing Hormone Antagonist / 대한불임학회지

OBJECTIVE: To report the pregnancy which was made by in vitro fertilization using recombinant follicle stimulating hormone and gonadotropin releasing hormone antagonist. MATERIAL AND METHOD: Case report. RESULTS: Six oocytes were retrieved and all were fertilized by intracytoplasmic sperm injection. Six embryos were transferred and the pregnancy was confirmed. CONCLUSION: It is envisaged that the availability of recombinant gonadotropins and gonadotropin releasing hormone antagonists will ultimately lead to shorter, cheaper and safer treatments, using reduced dosages.

A Case of Transverse Vaginal Septum with Microperforation Which got Pregnant by Intrauterine Insemination / 대한산부인과학회잡지

The mullerian ducts join the sinovaginal bulb at a point known as the mullerian tubercle. Canalization of the mullerian tubercle and sinovaginal bulb is necessary to give a normal vaginal lumen. If the area of junction between these structures is not completely canalized, a transverse vaginal septum will occur. This may be partial or complete and generally lies at the junction of the upper third and lower two thirds of the vagina. It occurs in about 1 per 75,000 females. Partial transverse vaginal septa have been reported in diethylstilbestrol (DES)-exposed females. In the prepubertal state, diagnosis is generally not made unless there is the development of a mucocolpos or mucometrium behind the septum. At puberty, however, if the septum is complete, hematocolpos and hematometrium may occur in a fashion similar to that seen in the imperforate hymen, except that there is no bulging at the introitus. The patient with an incomplete transverse septum may bleed somewhat but will still develop hematocolpos and hematometrium over time and may also complain of foul smelling vaginal discharge.

A Study of Protein S Deficiency in Antiphospholipid Syndrome / 대한불임학회지

OBJECTIVE: To evaluate the abnormality of protein S in patients with recurrent spontaneous abortion due to antiphospholipid syndrome. MATERIALS AND METHOD: Antigen and activity of protein S were analyzed by enzyme immunoassay and clotting method, respectively. RESULTS: Of 18 patients with antiphospholipid syndrome, 4 patients were found to have no abnormality of protein S. There were 14 cases of protein S abnormality. Among them, there were 8 cases of type 1, 1 case of type 2, and 5 cases of type 3 protein S deficiency. CONCLUSION: So in the workup of patients with recurrent spontaneous abortion due to antiphospholipid syndrome, the evaluation for protein S is required.

The Analysis of SHP (Small Heterodimer Partner) Gene Mutation in Infertile Patients with Polycystic Ovary Syndrome (PCOS) in Korea / 대한불임학회지

OBJECTIVE: We inversigated Small Heterodimer Partner (SHP) gene mutation in Korean Polycystic Ovarian Syndrome (PCOS) patients. SHP protein regulates the activity of nuclear receptors which regulate the cellular development and differentiation. Recently, the mutation of SHP gene was found in the obesity and diabetes patients in Japanese group, and suggested that its mutation may involved in pathogenic mechanism of PCOS. METHODS: This study was performed in 20 PCOS patients and 20 normal women. The DNAs were extracted from the peripheral bloods, and amplified at each exon (1 and 2) of SHP gene by PCR method. Subsequently, each PCR product was digested with the restriction enzyme indicated below for studying restriction fragment length polymorphism (RFLP). After enzyme digestion, the results of RFLP were compared PCOS patients with control women to find any sequence variation. RESULTS: We examined 9 regions of exon 1 with Msp I, Pvu II, Dde I and 3 regions of exon 2 with Pst I, Dde I. There is no heterozygous or homozygous mutation in patients and control women at these restriction sites. CONCLUSION: The genetic analysis at our restriction sites in the SHP gene did not show any genetic variation in Korean PCOS patients. Our PCR-RFLP analysis was not covered the entire SHP gene (68 bp/ 1,006 bp), we need to further analysis of the entire SHP gene.

A Study of Factor XII Deficiency in Recurrent Spontaneous Abortion / 대한불임학회지

OBJECTIVE: To evaluate factor XII deficiency in patients with recurrent spontaneous abortion and its relation to aPTT. MATERIAL AND METHOD: Factor XII was analyzed by clotting method. RESULTS: Of 70 patients with recurrent spontaneous abortion, there were 35 cases of factor XII deficiency. Among them, there were only 3 cases of prolonged aPTT. CONCLUSIONS: It is still unclear whether factor XII deficiency is related to recurrent spontaneous abortion. Molecular approaches should be used to understand further the causal relationship. But based on this result, in the workup of patients with recurrent spontaneous abortion, factor XII should be included. aPTT is not likely to represent the abnormality of factor XII.

The Analysis of Methylenetetrahydrofolate Reductase Mutation in Recurrent Spontaneous Abortion / 대한불임학회지

OBJECTIVE: To analyze the methylenetetrahydrofolate reductase (MTHFR) mutation in patients with recurrent spontaneous abortion. MATERIAL AND METHOD: The blood samples of patients with recurrent spontaneous abortion were tested by PCR-RFLP method. RESULTS: Of 51 cases of study group, 14 (27.5%) were normal, 25 (49.0%) were heterozygosity, and 12 (23.5%) were homozygosity. Of 58 cases of control group, 20 (34.5%) were normal, 30 (51.7%) were heterozygosity, and 8 (13.8%) were homozygosity. But the difference between two groups was not significant (p=0.190). CONCLUSION: Hyperhomocysteinemia due to MTHFR mutation is a cause of recurrent spontaneous abortion. Therefore, the study for MTHFR mutation should be included in the workup of recurrent spontaneous abortion.

Effects of uterine leiomyomas on pregnancy rate in ART treatment patients / 대한산부인과학회잡지

No abstract available.