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Gilles Russ, Bénédicte Royer, Claude Bigorgne, Agnès Rouxel, Marie Bienvenu-Perrard and Laurence Leenhardt

Objective

To evaluate prospectively the diagnostic accuracy of the thyroid imaging reporting and data system (TI-RADS) and its interobserver agreement and to estimate the reduction of indications of fine-needle aspiration biopsies (FNABs).

Design

A prospective comparative study was designed.

Methods

In 2 years, 4550 nodules in 3543 patients were prospectively scored using a flowchart and a six-point scale and then submitted to US-FNAB. Results were read according to the Bethesda system. Histopathological results were available for 263 cases after surgery. Sensitivity, specificity, negative predictive value (NPV) and positive predictive value, and accuracy were calculated for the gray-scale score, elastography, and a combination of both methods. Interobserver agreement was calculated using the kappa statistic. The reduction in the number of FNABs was estimated.

Results

When compared with cytopathological results, sensitivity, specificity, NPV, and accuracy were 95.7, 61, 99.7, and 62% for the TI-RADS gray-scale score; 74.2, 91.1, 98, and 90% for elastography; and 98.5, 44.7, 99.8, and 48.3% for a combination of both methods respectively. When compared with histopathological results, the sensitivity of the gray-scale score, elastography, and a combination of both methods were 93.2, 41.9, and 96.7% respectively. Interobserver agreement for the six-point scale and the recommendation for biopsy were substantial (κ value=0.72 and 0.76 respectively). The reduction in the number of FNABs was estimated to be 33.8%.

Conclusion

The TI-RADS score has high sensitivity and NPV for the diagnosis of thyroid carcinoma. A hard nodule should always be considered as suspicious for malignancy but elastography cannot be used alone. Combination of elastography with gray-scale can be used to improve sensitivity or specificity. Interobserver agreement and decrease in unnecessary biopsies are significant.

Free access

Béatrice Mandon-Pépin, Philippe Touraine, Frédérique Kuttenn, Céline Derbois, Agnes Rouxel, Fumihiko Matsuda, Alain Nicolas, Corinne Cotinot and Marc Fellous

Objective

The goal of this study was to determine whether mutations of meiotic genes, such as disrupted meiotic cDNA (DMC1), MutS homolog (MSH4), MSH5, and S. cerevisiae homolog (SPO11), were associated with premature ovarian failure (POF).

Design

Case–control study.

Methods

Blood sampling, karyotype, hormonal dosage, ultrasound, and ovarian biopsy were carried out on most patients. However, the main outcome measure was the sequencing of genomic DNA from peripheral blood samples of 41 women with POF and 36 fertile women (controls).

Results

A single heterozygous missense mutation, substitution of a cytosine residue with thymidine in exon 2 of MSH5, was found in two Caucasian women in whom POF developed at 18 and 36 years of age. This mutation resulted in replacement of a non-polar amino acid (proline) with a polar amino acid (serine) at position 29 (P29S). Neither 36 control women nor 39 other patients with POF possessed this genetic perturbation. Another POF patient of African origin showed a homozygous nucleotide change in the tenth of DMC1 gene that led to an alteration of the amino acid composition of the protein (M200V).

Conclusions

The symptoms of infertility observed in the DMC1 homozygote mutation carrier and in both patients with a heterozygous substitution in exon 2 of the MSH5 gene provide indirect evidence of the role of genes involved in meiotic recombination in the regulation of ovarian function. MSH5 and DMC1 mutations may be one explanation for POF, albeit uncommon.

Free access

Anne Bachelot, Agnès Rouxel, Nathalie Massin, Jérome Dulon, Carine Courtillot, Christine Matuchansky, Yasmina Badachi, Anne Fortin, Bernard Paniel, Fabrice Lecuru, Marie-Aude Lefrère-Belda, Elisabeth Constancis, Elisabeth Thibault, Géri Meduri, Anne Guiochon-Mantel, Micheline Misrahi, Frédérique Kuttenn, Philippe Touraine and on behalf of the POF-GIS Study Group

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 Turner's 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.