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 fineneedle 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 (k valueZ0.72 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.

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.

This study showed the potential efficacy of HIFU for human thyroid nodule ablation. Lesions were clearly visible by histology and ultrasound after high energy treatments, and safety and tolerability were good. We identified a power threshold for optimal necrosis of the target thyroid tissue. Further studies are ongoing to assess nodule changes at longer follow-up times.

To estimate survival of patients with loco-regional recurrences (LRRs) of differentiated thyroid carcinomas (DTCs) and to identify factors associated with survival after LRRs, we analyzed retrospective data of the 172 patients treated and followed up in our institution from 1958 to 2000 who had developed LRRs (6% of DTC patients). Ultrasound, when used, picked up 95% of the recurrences. Survival was estimated with the method of Kaplan-Meier, and associated prognostic features were studied in univariate and multivariate Cox modelbased analyses. Cumulated survival rates 10 yr after LRRs were 49.1, 89.3, and 32.1% for all patients, patients aged less than 45 yr, and older patients, respectively. Multivariate analysis identified three features related to initial tumor (age > 45 yr, follicular histology, presence of thyroid capsular effraction), the absence of radioiodine ablation of thyroid remnants after initial surgery (10% of patients did not receive radioiodine), the presence of distant metastases before LRR diagnosis, and two features related to the LRRs (no radioiodine uptake and thyroid bed location) as significantly associated with a reduced survival. Our results underline the seriousness of LRRs of DTCs and could be used to identify patients who should benefit from a closer follow-up and especially reactive therapeutic intervention. (J Clin Endocrinol Metab 89: 5362-5368, 2004)

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.

Despite high elasticity values in classic PTC variants, conventional SWE indexes failed to discriminate between benign and malignant tumors in thyroid nodules with IC.

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Background To evaluate FCH‐PET/CT and parathyroid 4D‐CT so as to guide surgery in patients with primary hyperparathyroidism (pHPT) and prior neck surgery. Methods Medical records of all patients referred for a FCH‐PET/CT in our institution were systematically reviewed. Only patients with pHPT, a history of neck surgery (for pHPT or another reason) and an indication of reoperation were included. All patients had parathyroid ultrasound (US) and Tc‐99m‐sestaMIBI scintigraphy, and furthermore, some patients had 4D‐CT. Gold standard was defined by pathological findings and/or US‐guided fine‐needle aspiration with PTH level measurement in the washing liquid. Results Twenty‐nine patients were included in this retrospective study. FCH‐PET/CT identified 34 abnormal foci including 19 ectopic localizations. 4D‐CT, performed in 20 patients, detected 11 abnormal glands at first reading and 6 more under FCH‐PET/CT guidance. US and Tc‐99m‐sestaMIBI found concordant foci in 8/29 patients. Gold standard was obtained for 32 abnormal FCH‐PET/CT foci in 27 patients. On a per‐lesion analysis, sensitivity, specificity, positive and negative predictive values were, respectively, 96%, 13%, 77% and 50% for FCH‐PET/CT, 75%, 40%, 80% and 33% for 4D‐CT. On a per‐patient analysis, sensitivity was 85% for FCH‐PET/CT and 63% for 4D‐CT. FCH‐PET/CT results made it possible to successfully remove an abnormal gland in 21 patients, including 12 with a negative or discordant US/Tc‐99m‐sestaMIBI scintigraphy result, with a global cure rate of 73%. Conclusion FCH‐PET/CT is a promising tool in the challenging population of reoperative patients with pHPT. Parathyroid 4D‐CT appears as a confirmatory imaging modality.