Which are the most common thrombophilic genetic nucleotide polymorphisms in infertile women undergoing an IVF cycle?

INTRODUCTION: Thrombophilia is considered one of the causes of infertility, especially after repeated failures of IVF techniques. The aim of this work is to evaluate the incidence of thrombophilia in women who underwent IVF cycles and assess the outcome of the techniques. METHODS: In vivo study. The study sample was composed of 262 women undergoing a fresh cycle of in vitro fertilization (IVF) cycle of Intracytoplasmatic Sperm Injection (ICSI) from July 2012 to December 2014 in the Center of Physiopathology of Human Reproduction. Amongst these patients, we have selected 96 patients with indication for thrombophilia screening. RESULTS: Thrombophilia screening detects that only 8% (n = 8) of the patients was negative to all the studied mutations, while the remaining 92% (n = 88) was positive to at least one mutation. The most common mutations were MTHFR gene (C677T) (91,84%), ACE gene (54,88%) and PAI-1 gene (69,44%). CONCLUSION: Our results showed an increased frequency of genetic nucleotide polymorphisms in women reporting failures in IVF techniques. Differently from scientific literature data, in our work, the most frequent mutation affects the enzyme gene MTHFR, particularly the C667T mutation; on the other side, mutations of factor V and II are less common.

Giant leiomyoma of the retzius space: a case report.

Extrauterine leiomyoma is a very rare clinical condition; we report a case of leiomyoma of the Retzius space in a 49-year-old women who suffered for two years from bladder voiding symptoms characterized by dysuria, feeling of incomplete emptying, and pelvic pain. Clinical evaluation and abdominal and transvaginal ultrasound suggested the presence of a voluminous (about 10 cm in diameter) fibromyoma of the anterior uterus surface. The urodynamic evaluation demonstrated the presence of bladder outlet obstruction (voiding pressure greater than 20 cm H2O and maximum flow rate less than 12 mL/s) with a postvoiding urine residual equal to 80 mL; moreover, the presence of cystocele and urethral stricture was ruled out performing clinical evaluation, cystography, and cystourethroscopy. The patient underwent laparotomy to remove the uterine fibromyoma. Intraoperatively, a voluminous soft mass arising from the Retzius space was found; it was firmly adhered to the uterus with obliteration of vesicouterine pouch owing to severe adhesion to the anterior surface of uterus. The tumour was isolated, enucleated from the prevesical space, and removed; moreover, the patient became asymptomatic after surgery. In conclusion, leiomyoma of the Retzius space is a very rare benign tumour that should be considered in the presence of severe bladder voiding symptoms.