Cases reported "Infertility"

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1/71. Uniparental isodisomy resulting from 46,XX,i(1p),i(1q) in a woman with short stature, ptosis, micro/retrognathia, myopathy, deafness, and sterility.

    We report on a 43-year-old woman who was referred for evaluation because of minor facial anomalies, myopathy, sterility, short stature, hearing loss, downward slant of palpebral fissures, bilateral ptosis, severe micro/retrognathia, high arched palate, and scoliosis. Cytogenetic analyses utilizing GTG/CBG bandings showed presence of one i(1p) and one i(1q) without normal chromosome 1 homologues. fluorescence in situ hybridization analysis showed hybridization to only two chromosomes, consistent with the G-banded interpretation of i(1p) and i(1q). To the best of our knowledge, this is the first case of isochromosomes 1p and 1q replacing the two normal chromosome 1s. Molecular investigations using markers for chromosome 1 showed inheritance of only one set of paternal alleles and absence of any maternal alleles in the patient. The adverse phenotype of the patient may be due to one or more recessive mutations, genomic imprinting, or a combination of both. ( info)

2/71. Oral contraceptives: therapeutic uses and quality-of-life benefits--case presentations.

    Numerous studies have shown that oral contraceptives (OC) provide protection against a wide variety of illnesses and conditions, including loss of bone density, ovarian cysts, menstrual cycle irregularities, dysmenorrhea and menorrhagia, ectopic pregnancy, pelvic inflammatory disease, benign breast disease, endometrial cancer, and ovarian cancer. How OC can be used not only for contraception but also to improve health among women throughout their reproductive years is illustrated by four case presentations: an adolescent with menstrual problems; a 25-year-old mulligravida who wishes to delay childbearing; a 35-year-old who has completed her family and requests tubal ligation; and a 45-year-old with perimenopausal symptoms. In view of their numerous health benefits, OC are to reproductive-age women as hormone replacement therapy is to menopausal women. ( info)

3/71. Analysis of the sex chromosome constitution of sperm in men with a 47, XYY mosaic karyotype by fluorescence in situ hybridization.

    OBJECTIVE: To determine the incidence of sex chromosome aneuploidy in the sperm of two men with a 47,XYY/46,XY karyotype. DESIGN: Case report. SETTING: infertility clinic in a teaching hospital. PATIENT(S): One patient with near normal semen parameters whose wife had a history of miscarriages and one patient with primary infertility and severe oligoasthenozoospermia. INTERVENTION(S): cytogenetic analysis of peripheral lymphocytes and three-color X/Y/18 fluorescence in situ hybridization analysis of sperm. MAIN OUTCOME MEASURE(S): Analysis of sex chromosome disomy and diploidy rates in sperm. RESULT(S): Both patients had a 47,XYY/46,XY karyotype. The hyperdiploidy rate of patient 1 was 19% and that of patient 2 was 90%. The incidence of disomy XY was significantly elevated in both patients compared with the controls (0.23% and 1.02%, respectively, versus 0.10%). The incidence of disomy YY (0.44% versus 0.10%) was increased only in patient 2, as was the incidence of disomy 18 (0.49% versus 0.09%) and the rate of diploidy (0.83% versus 0.13%). The rate of 24,XX sperm in both patients was not different from that in the controls. CONCLUSION(S): patients with a 47,XYY mosaic karyotype may be at risk of producing offspring with a hyperdiploid sex constitution. These patients should have their sperm investigated by fluorescence in situ hybridization to determine their particular risks before they undergo intracytoplasmic sperm injection. ( info)

4/71. Successful in-vitro fertilization in a natural cycle after four previously failed attempts in stimulated cycles: case report.

    A case is reported of successful in-vitro fertilization (IVF) and pregnancy in a natural cycle after four previously failed attempts with stimulated cycles. The patient began treatment at the age of 36 years and underwent four stimulated IVF cycles, each time with three embryos of good quality transferred. In one attempt, three cryopreserved embryos were transferred in a natural cycle. The patient failed to conceive. At the age of 38 years, the patient was entered into a natural cycle IVF programme. The patient conceived twice in each of her first two attempts but unfortunately aborted. In her third natural cycle of IVF, again with one oocyte obtained and one embryo transferred, the patient conceived and had a full term gestation. It is concluded that IVF in a natural cycle is a viable option for infertile women with blocked fallopian tubes who have normal ovulatory menstrual cycles. ( info)

5/71. Molecular cloning of translocation breakpoints in a case of constitutional translocation t(11;22)(q23;q11) and preparation of probes for preimplantation genetic diagnosis.

    in vitro fertilization (IVF) centres with preimplantation genetic diagnosis (PGD) programmes are often confronted with the problem of identifying chromosomal abnormalities in interphase cells biopsied from preimplantation embryos of carriers of a reciprocal translocation. The present authors have developed a dna testing based approach to analyse embryos from translocation carriers, and this report describes breakpoint-spanning probes to detect abnormalities in cases of the most common human translocation (i.e. the t(11;22)(q23;q11)). Screening a yeast artificial chromosome (YAC) library for probes covering the respective breakpoint regions in the patient lead to probes for the breakpoint on chromosome 11q23. The physically mapped YAC and bacterial artificial chromosome (BAC) clones from chromosome 22 were then integrated with the cytogenetic map, which allowed localization of the breakpoint on chromosome 22q11 to an interval of less than 84 kb between markers D22S184 and KI457 and to prepare probes suitable for interphase cell analysis. In summary, breakpoint localization could be accomplished in about 4 weeks with additional time needed to optimize probes for use in PGD. ( info)

6/71. Individual and group psychotherapy with infertile couples.

    After reviewing some of the relevant literature, the writers proceed to describe a new development in psychotherapy for couples presenting with relatively unexplained infertility. Several couples who had failed to achieve conception (despite the use of assisted reproductive techniques and personal psychotherapy) were brought together into a supportive-expressive group led by the writers, an experienced analytic cotherapy couple. An interesting outcome is described, and mention made of current plans for a future research project. ( info)

7/71. Administration of recombinant follicle stimulating hormone in a woman with allergic reaction to menotropin: a case report.

    This report describes a patient who experienced a generalized allergic reaction to Pergonal during controlled ovarian hyperstimulation in preparation for an intracytoplasmic sperm injection procedure for treatment of severe male factor infertility. The report describes a successful desensitization protocol which allowed the patient to complete her treatment cycle despite the allergic reaction to Pergonal. Subsequently recombinant follicle stimulating hormone was used successfully in inducing follicular growth in the absence of any allergic reactions. Therefore, this report confirms other studies which have suggested that an allergic reaction to human menopausal gonadotropins is due to impurities in such urine-derived products. ( info)

8/71. Absence of central microtubules and transposition in the ciliary apparatus of three siblings.

    We studied the cases of three siblings with a history of chronic bronchitis and infertility. The electron-microscopic investigation of the tracheal and bronchial biopsies showed a ciliary defect consisting in the absence of the central microtubules and the transposition of a peripheral doublet. This is a rare and infrequently reported abnormality included in the primary ciliary diskinesia syndrome. ( info)

9/71. Early localized peritoneal mesothelioma as an incidental finding at laparoscopy. Report of a case and implications regarding natural history of the disease.

    BACKGROUND: Peritoneal mesothelioma is regarded as a fatal disease that presents with progressive ascites in a relatively late stage of its natural history. To the authors' knowledge, prior published articles have not described the early manifestations of this cancer. methods: A 30-year-old asymptomatic woman underwent laparoscopy for an infertility workup. Nodules noted in the pelvis were biopsied and determined to be mesothelioma. Standard immunohistochemical studies were performed. Cytoreductive surgery and heated intraoperative intraperitoneal chemotherapy were used for treatment. RESULTS: Multiple (approximately 30) tumor nodules up to 2 mm in dimension and limited to the pelvis were observed and resected. No primary tumor focus was evident. These tumor nodules stained positive for Calretinin and negative for carcinoembryonic antigen immunohistochemically. CONCLUSIONS: In this patient, no incidence for transcoelomic dissemination of mesothelioma from a single primary site was observed. Rather, this patient's clinical presentation suggested that mesothelioma may be multifocal in origin within a limited region of the peritoneal cavity. This hypothesis may support a rationale for aggressive local-regional management of selected patients in whom peritoneal mesothelioma is of limited distribution and mass. ( info)

10/71. Laparoscopic management of consecutive ovarian pregnancy in a patient with infertility.

    The diagnosis of ovarian pregnancy is based on the improper rise of serum beta-hCG levels, sonographic findings of an empty uterus, highly characteristic ovarian formation with double hyperechogenic ring surrounding small hypoechogenic field, and the laparoscopic verification of Spiegelberg's criteria. We present a case of ovarian pregnancy in spontaneous cycle in 34-year-old woman following two unsuccessful IVF/ET procedures and ovarian pregnancy on contralateral side laparoscopically treated seven months ago, also achieved in non-stimulated, spontaneous cycle. On admission she had a serum hCG level of 596 mIU/mL on cycle day 46 and an empty uterus. Transvaginal sonography showed a 20 mm ring-like thick-walled hyperechogenic structure within the left ovary. The echogenic ring was surrounded by irregular, hypoechogenic structures suggestive of an ovarian pregnancy with periluteal hemorrhage and blood clots. The ruptured cystic ovarian pregnancy and the corpus luteum were removed by laparoscopy. During the procedure we have seen two clips on the right ovary placed laparoscopically to achieve hemostasis after rupture of the ovarian pregnancy seven months ago. Histopathology showed isolated chorionic villi within hemorrhagic areas in the vicinity of the corpus luteum. ( info)
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