To determine the relationship between premature ovarian failure (POF) and skewed X-chromosome inactivation (XCI), karyotype, and XCI status in 43 patients with POF (group I) and 43 age-matched control women with regular menstrual cycles (group II) were evaluated. Evaluation of XCI status was based on the CAG triplet repeat polymorphism assay in the androgen receptor gene after sodium bisulfite treatment of DNA samples, and XCI patterns were classified as random (XCI < 70% skewing) or skewed (> or =70%). Furthermore, skewed XCI was classified under three different thresholds (> or =70, > or =80, or > or =90%). Karyotyping by G-banding and fluorescence in situ hybridization (FISH) on peripheral blood lymphocytes showed that one patient in group I had a deletion of Xq22, and another was 47,XXX. The frequency of low-level 45,X/46,XX mosaicism was nearly equal in both groups. In women without any X-chromosomal aberrations, the incidence of skewed XCI in group I was significantly higher than in group II on all threshold levels. Furthermore, extremely skewed XCI (> or =90%) was observed only in group I. These results indicate that POF may be caused by some underlying genetic disorders, which may induce skewed XCI.
A high revised American Society for Reproductive Medicine score was a risk factor, and postoperative pregnancy was protective against recurrence. The patient with short periods of normal menstruation without pregnancy or gonadotrophin-releasing hormone analogues from first surgery to recurrence had a high risk of re-recurrence.
A 38-year-old woman, gravida 3, para 1 with a history of a left salpingectomy for an ectopic pregnancy was admitted for treatment of a presumed ectopic pregnancy. Transvaginal sonography revealed an ill-defined gestational sac and fetal heart beat within the fundal myometrium adjacent to the left cornua. Laparoscopy was performed for a suspected left cornual pregnancy or intramural pregnancy. A cystic mass 3 cm in diameter was visible within the fundal myometrium. Total laparoscopic removal of the gestational sac was performed, and the uterus was preserved. Pathologic evaluation of the excised mass demonstrated chorionic villi involving the myometrium. In the literature, only one other case describing the laparoscopic removal of an intramural pregnancy has been reported. However, in the prior report, the patient still required hysterectomy after conservative surgery. Therefore, this is the first report of the successful treatment of an intramural pregnancy exclusively with laparoscopy.
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