The author have experienced a case of aniridia in a 44 year-old man. Aniridia is an uncommon congenital anomaly, is almost bilateral cmd appears as a dominant characteristic. Coincident anomalies are the rule, affectory especially the cornea and the lens. Chronic glaucoma is due to anatomical defect, with a reduction in the available filtration angle. It is noticeable, that very few patients with aniridia have retained good vision through a reasonably long life.
Adult ; Aniridia* ; Cornea ; Filtration ; Glaucoma ; Humans

We have experienced a case of congenital deformity of the eye, which was unilateral, combined with cleft lip and palate. Oblique facial cleft is the most uncomnon facial cleft. The cleft follows an oblique line extending from the upper lip, lateral to the philtrum and nostril, toward the eye. The coloboma of the lower lid and enlarged bifid of the cornea were formed by part of a deep groove dong the lateral aspect of the nose, together with the presence of the cleft lip and palate. In the present case, the malformation may have resulted from abnormalities in the germ cells themselves or from amniotic abnormal pressure, or from the formation of amniotic bands or adhesions.
Amniotic Band Syndrome ; Cleft Lip* ; Coloboma ; Congenital Abnormalities* ; Cornea ; Germ Cells ; Infant, Newborn ; Lip ; Nose ; Palate*

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

Recurrent pregnancy loss (RPL) is defined as three or more consecutive spontaneous abortions. It affects about 1% of couples attempting pregnancy. Most of these pregnancy losses are unrecognized. Among the pregnancies that are clinically recognized, loss occurs in 15% before 20 weeks of gestation. Only about 50% of women with RPL have an identifiable etiology. Genetic abnormalities are responsible for RPL in 2~4% of these couples, most with balanced translocation. Luteal phase defect might be present in 25~30% of women with RPL; however, progesterone supplementation for miscarriage prevention has not been adequately studied. Uterine abnormalities might also result in RPL. Inherited thrombophilias appear to be associated with fetal death, and antenatal thromboprophylaxis might be beneficial for some women with an inherited thrombophilia. Antiphospholipid syndrome is known to cause RPL, and antenatal thromboprophylaxis reduces the risk of miscarriage. The evidence on alloimmune incompatibility as a cause of RPL is preliminary and no immunotherapy has been shown to be effective in the prevention of miscarriage. Recently a series of new factors that exhibit an association with RPL have been identified, and they might exhibit an additive or multiplicative effect on the RPL risk.
Abortion, Spontaneous ; Antiphospholipid Syndrome ; Family Characteristics ; Female ; Fetal Death ; Humans ; Immunotherapy ; Luteal Phase ; Pregnancy* ; Progesterone ; Thrombophilia

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

Secondary involvement of the eye and orbit occurs in about two to four percent of the patients with generalized lymphomatosis and/or other forms of lymphomatous tumors. Of the extranodal primary lesions which are more rare manifestation of the malignant lymphoma, only one percent occur in the eye and orbit. The malignant lymphoma of the orbit is consequently a relatively uncommon condition. The authors experienced a case of the malignantly mphoma of the orbital margin and treated by local radiation therapy with Co60, and the lesions regressed rapidly and completely disappeared. There has been no sign of recurrence at the orbital region, but we found that the malignant lymphomatous lesions involved in the pancreas and omentum by the surgical laparotomy. The patient died of poor course of the disease about 20 days after discharge.
Humans ; Laparotomy ; Lymphoma* ; Omentum ; Orbit* ; Pancreas ; Recurrence