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

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

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*

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

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*

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

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*

BACKGROUND: The bidirectional cavopulmonary shunt (BCPS) is one of the primary palliative procedures for complex congenital heart disease. It has many advantages, but it is known to have high risks in young infants. MATERIAL AND METHOD: From 1995 to 2003, 48 infants under the age of one year underwent BCPS. All the patients were Fontan candidates due to functional univentricular heart physiology. There were no significant differences in preoperative variables, except in mean age (67.58+/-3.78 vs. 212.91+/-13.44 days), and mean body weight (4.51+/-0.29 vs. 6.62+/-0.27 kg), between group A (<3 months, n=12) and group B (> or=3 months, n=36). RESULT: In group A, the arterial oxygen saturations serially measured were significantly lower. Hospital mortality was 25%, and 19%, respectively. During follow up, there were 2 late mortalities in group A, and 5 in group B. CONCLUSION: This study showed that operative risk in young infants was comparable to that of older patients, and BCPS could be a good option as a primary palliative procedure, and may eliminate other repeated palliative procedures which could be the risk factors for Fontan candidates. However, in high-risk patients accompanying pulmonary hypertension, or heterotaxia syndrome, other palliative procedures should be considered.
Anastomosis, Surgical ; Body Weight ; Follow-Up Studies ; Fontan Procedure ; Heart ; Heart Defects, Congenital ; Hospital Mortality ; Humans ; Hypertension, Pulmonary ; Infant* ; Mortality ; Oxygen ; Physiology ; Risk Factors

Adenocarcinomas of the sinonasal tract are relatively rare. Such tumors are divided into salivary and nonsalivary types as classified by the World Health Organization. Nonsalivary sinonasal adenocarcinomas are further classified as intestinal (ITAC) and non-intestinal (non-ITAC), which can be separated even further into high-grade and low-grade. Low grade non-ITACs are more uncommon than ITACs. In this study, we present a case of low-grade non-ITAC in a 61-year-old woman who was successfully treated with wide excision without radiotherapy, and we also provide a review of the literature.
Adenocarcinoma* ; Female ; Humans ; Middle Aged ; Nasal Cavity ; Nasal Septum* ; Radiotherapy ; World Health Organization

BACKGROUND/AIMS: Metabolic syndrome is an emerging risk factor for cardiovascular disease. This study investigated the prevalence of metabolic syndrome among psychiatric patients in order to identify the dominant factors of metabolic syndrome. METHODS: We enrolled 225 patients who had been admitted to a chronic psychiatric hospital from October 2005 to February 2006. The prevalence of metabolic syndrome was assessed based on the Adult Treatment Panel (ATP)-III with the new criterion of waist circumference in the Asia-Pacific Region. RESULTS: The study population was relatively young (41.1 +/- 8.8 years) and obese (waist in men, 91.3 +/- 9.2 cm; waist in women, 84.1 +/- 8.8 cm). Sixty percent of patients met the waist criterion of metabolic syndrome and 56% met the low high density lipoprotein (HDL) criterion. The mean serum triglycerides were high (170.0 +/- 119.7 mg/dL) and 46% of patients met the triglyceride criterion. In contrast, less than 10% of patients showed impaired fasting glucose or high blood pressure (5%, 9%, respectively). The overall prevalence of metabolic syndrome was 34.2% by applying ATP-III criteria (40% in men and 20% in women, respectively). No specific anti-psychotic drugs were related to significant increase in the incidence of metabolic syndrome. CONCLUSIONS: Abdominal obesity and dyslipidemia (low HDL and high triglycerides) were dominant contributing factors of metabolic syndrome among psychiatric patients, and the affected age groups were relatively young. These findings indicate that active and early screening, including triglycerides, HDL, and waist measurement, are absolutely essential to managing metabolic syndrome in psychiatric patients.
Adult ; Antipsychotic Agents/therapeutic use ; Cholesterol, HDL/blood ; Cholesterol, LDL/blood ; Dyslipidemias/*epidemiology ; Female ; Humans ; Hypertension/epidemiology ; Male ; Mental Disorders/drug therapy/*epidemiology ; Metabolic Syndrome X/*epidemiology ; Middle Aged ; Obesity, Abdominal/*epidemiology ; Prevalence ; Republic of Korea/epidemiology ; Risk Factors ; Triglycerides/blood ; Young Adult