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Objective: To describe the first case of monozygotic twin sisters with fragile X premutation and discordance for premature ovarian failure (POF). Design: A descriptive case study. Setting: Academic center. Patient(s): Monozygotic twin sisters with fragile X premutation and discordance for POF. Intervention(s): Serum laboratory testing, fragile X premutation screening, zygosity testing, X-inactivation ratio and Southern blot studies. Main Outcome Measure(s): Incidence of POF in this twin cohort. Result(s): Zygosity analysis using polymerase chain reaction of 15 polymorphic markers via capillary gel electrophoresis in these patients confirmed their monozygosity. X-inactivation studies were performed using the human androgen receptor (HUMARA) gene and revealed similar X-inactivation ratios for both the patient and her sister (11:89 and 12:88, respectively) from peripheral serum samples. Southern blot evaluation of the proband and her sister revealed a similar methylation pattern in which the premutation allele was unmethylated much more than the normal allele. The contribution of the premutation on the active allele as determined by Southern blot analysis was consistent between sisters. Conclusion(s): The inactivation ratio studies and subsequent Southern blot analysis do not show differences between the patients; therefore, we are unable to identify a causative mechanism for the identical sisters’ discordant phenotypes. It is possible that the inactivation ratios observed from the peripheral blood specimens obtained from the sisters do not represent the allele expression and skewing present at the level of the ovary. [ABSTRACT FROM AUTHOR]

Objective: To describe a technique for frozen-banked ovarian tissue transplantation using robotic-assisted laparoscopy. Design: Case study. Setting: Academic tertiary care center. Patient(s): A 38-year-old patient in remission for non-Hodgkin lymphoma, whose ovarian tissue had been frozen for 3 years. Intervention(s): Robotic-assisted laparoscopic transplantation of thawed ovarian cortical tissue to the remaining ovary and peritoneum. Main Outcome Measure(s): Resumption of spontaneous menses, follicular development, and ovulation as demonstrated by ultrasound, and serum E2 and P levels. Result(s): The patient experienced cyclic spontaneous menstruation 6 months after the transplantation. Ovulation was confirmed by ultrasound and serum E2 and P levels at month 11 after surgery. Conclusion(s): Robotic-assisted laparoscopic surgery may be a good, minimally invasive alternative for the ovarian tissue transplantation procedure to restore ovarian function. [Copyright &y& Elsevier]

Objective: To describe an early small bowel obstruction after robotic-assisted laparoscopic myomectomy with the Davinci system. Design: Case report. Setting: Academic medical center. Patient(s): Two days after a robotic-assisted laparoscopic myomectomy, a 35-year-old nulligravid African-American woman developed a small bowel obstruction due to retained myoma fragments that had implanted on and subsequently kinked loops of the small bowel. Intervention(s): The patient was managed conservatively for 4 days with bowel rest and IV hydration. Due to worsening clinical symptoms and supportive radiologic findings, exploratory laparotomy was performed to lyse adhesions and remove the implanted myoma pieces. Main Outcome Measure(s): Clinical resolution of small bowel obstruction symptoms. Result(s): No bowel resection was needed for this patient. Conclusion(s): Prompt recognition and operative treatment of the small bowel obstruction prevented the need for intestinal resection. To reduce the risk of ectopic implantation of myoma fragments, meticulous care should be taken to remove all remnants of morcellated tissue. Immediate postoperative complications, such as bowel obstruction, and long-term complications related to recurrent myomas may then be avoided. [ABSTRACT FROM AUTHOR]