Marie-Aude Lefrère-Belda

Phenotyping and genetic studies of 357 consecutive patients presenting with premature ovarian failure

OBJECTIVE Premature ovarian failure (POF) encompasses a heterogeneous spectrum of conditions, with phenotypic variability among patients. The etiology of POF remains unknown in most cases. We performed a global phenotyping of POF women with the aim of better orienting attempts at an etiological diagnosis. DESIGN AND METHODS We performed a mixed retrospective and prospective study of clinical, biological, histological, morphological, and genetic data relating to 357 consecutive POF patients between 1997 and 2008. The study was conducted at a reproductive endocrinology referral center. RESULTS Seventy-six percent of the patients presented with normal puberty and secondary amenorrhea. Family history was present in 14% of the patients, clinical and/or biological autoimmunity in 14.3%. Fifty-six women had a fluctuating form of POF. The presence of follicles was suggested at ultrasonography in 50% of the patients, and observed in 29% at histology; the negative predictive value of the presence of follicles at ultrasonography was 77%. Bone mineral density alterations were found in 58% of the women. Eight patients had X chromosomal abnormalities other than Turners syndrome, eight other patients evidenced FMR1 pre-mutation. Two other patients had autoimmune polyendocrine syndrome type 2 and 1. CONCLUSION A genetic cause of POF was identified in 25 patients, i.e. 7% of the whole cohort. POF etiology remains most often undiscovered. Novel strategies of POF phenotyping are in such content mandatory to improve the rate of POF patients for whom etiology is identified.

Value of three-dimensional contrast-enhanced power Doppler ultrasound for characterizing adnexal masses

Aims:  The aim of this study was to assess the diagnostic performance of 3‐D contrast‐enhanced power Doppler ultrasonography (3‐D CEPDUS) for differentiating benign and malignant adnexal masses.

Sono-Guided Endometrial Biopsy: Comparison with Hysteroscopy Biopsy

Objective: To assess the feasibility, tolerance and diagnostic accuracy of endometrial biopsy (EB) during sonohysterography (SH) compared to EB after hysteroscopy (HSC) in endometrial disorders. Methods: 105 consecutive patients with irregular uterine bleeding were included prospectively in the calendar year 2001. SH and flexible HSC were performed in an office setting, subsequently and in a random order, by two different practitioners blind to the former experiment. SH-EB was performed using a 3.1-mm ultrasound-guided Bernard catheter in the uterine cavity still partly distended and with a gentle 20-ml syringe vacuum aspiration. The biopsy was directed on focal lesions or else randomly when no targets had previously been found. A Cornier Pipelle® was used to perform EB after HSC. We investigated all patients by biopsy, independent of the endometrial thickness. HSC-EB was the gold standard. Results: For both methods, cervical catheterism was impossible in 20 patients, 75 of them successfully underwent both exams. Duration and tolerance were similar. SH was effective in the distinction between normal and pathologic cavities, as well as in the diagnosis of polyps. Endometrium appeared significantly thinner with HSC (1.8 mm) when compared to SH (2.9 mm, p < 0.05). Histological endometrial assessment failed in 30 cases of SH-EB and in 22 cases in HSC-EB (NS). There was a poor correlation of the histological results of both techniques. Hyperplasia has never been diagnosed by SH-EB, whereas 3 EB issued from HSC-EB brought up this diagnosis. Conclusion: SH-EB with our technique did not improve the diagnostic potential of SH and severe diagnosis was missed. Histological assessment should fail less when we exclude endometrial atrophy. The diameter of the catheter and the aspiration technique must be revised and the learning curve must be considered. Our technique cannot replace EB by HSC.