No abstract

The authors identified several errors after their paper had been printed: 1. C-peptide values were inadvertently converted to nmol/l from ng/ml by multiplying by 0.331 twice. Correct values require division of reported values by 0.331. 2. Fig. 2: the Y-axis for growth hormone should be labelled as µg/l. 3. The mean growth hormone concentration at 0 min on the saline study day was incorrectly plotted. The correct value was 2.34 µg/l +/-1.64. 4. Fig. 2: the Y-axis for cortisol should be labelled as nmol/l

Oral communication abstractsConclusions: On ultrasound GCT is characterized by a large multilocular or solid mass with a large number of locules and increased vascularization; it rarely has papillarities. OC207 Mayo Clinic, United StatesObjectives: Ovarian causes of virilization include polycystic ovary syndrome (PCOS), androgen-secreting neoplasms and ovarian stromal hyperthecosis (SH). The ultrasound features of the first two causes have been described, but there is little published data regarding the ultrasound appearance of ovarian stromal hyperthecosis. The primary purpose of this study was to describe the sonographic features of ovarian SH. Methods: A computerized search of our institution's pathology and imaging databases from 1996 to 2006 was performed to identify patients with histologically proven SH who had a pelvic ultrasound scan before surgery. The ultrasound images were reviewed to categorize the ultrasound findings. Associated pathological findings in the ovaries and uterus were also noted. Results: Sixteen ovaries with SH, in 12 patients with mean age 59.6 (range, 36-83) years, were identified. SH was bilateral in four, unilateral in six and of uncertain laterality in two patients who only had a unilateral oophorectomy. Ultrasound findings in the 16 ovaries with SH were: two normal, seven not seen, three enlarged but otherwise normal, one with a hemorrhagic cyst (resolved by surgery) and otherwise normal, one with a probable solid mass (nodular SH), and two with polycystic ovaries (both SH and PCOS by histology). Three of the 12 patients (25%) also had endometrial carcinoma. Five of the 12 patients (42%) also had an ovarian fibrothecoma. Conclusions: Ovarian SH does not have recognizable ultrasound findings in most patients. A minority of affected ovaries appear enlarged but otherwise normal, a solid mass may infrequently be visible, and PCOS changes may coexist with SH. A possible association of SH with endometrial carcinoma was noted, and has been reported previously. A possible association of SH with fibrothecoma was also noted, which to our knowledge has not been reported previously. Objectives: To assess the performance of the power Doppler index (PDI) compared to subjective judgment of the ultrasonographer in the preoperative diagnosis of ovarian malignancy. Methods: Eighty-two successive complex adnexal masses were examined prospectively with power Doppler before surgical treatment. The investigation was multicentric and included in a large contrast-enhanced ultrasound European study. A vascularity index based on the number of colored pixels, was estimated on selected frames (defined region of interest covering the entire tumor) of the tumors using an in-house color quantifying program. The sensitivity and specificity of PDI, the resistance index and subjective visual scoring were compared using receiver-operating characteristic (ROC) curves. Results: Histology identified 34 malignant tumors including 11 borderline tumors and 48 benign tumors. PDI was considerably higher in malignant tha...

Ovarian SH has variable sonographic features. Most commonly, the affected ovaries are either normal or slightly enlarged. A solid mass may infrequently be visible, and polycystic ovary syndrome changes may coexist with SH. A possible association of SH with fibrothecoma was also noted, which to our knowledge has not been previously reported.

Background In the United States, rare disease (RD) is defined as a condition that affects fewer than 200,000 individuals. Collectively, RD affects an estimated 30 million Americans. A significant portion of RD has an underlying genetic cause; however, this may go undiagnosed. To better serve these patients, the Mayo Clinic Program for Rare and Undiagnosed Diseases (PRaUD) was created under the auspices of the Center for Individualized Medicine (CIM) aiming to integrate genomics into subspecialty practice including targeted genetic testing, research, and education. Methods Patients were identified by subspecialty healthcare providers from 11 clinical divisions/departments. Targeted multi-gene panels or custom exome/genome-based panels were utilized. To support the goals of PRaUD, a new clinical service model, the Genetic Testing and Counseling (GTAC) unit, was established to improve access and increase efficiency for genetic test facilitation. The GTAC unit includes genetic counselors, genetic counseling assistants, genetic nurses, and a medical geneticist. Patients receive abbreviated point-of-care genetic counseling and testing through a partnership with subspecialty providers. Results Implementation of PRaUD began in 2018 and GTAC unit launched in 2020 to support program expansion. Currently, 29 RD clinical indications are included in 11 specialty divisions/departments with over 142 referring providers. To date, 1,152 patients have been evaluated with an overall solve rate of 14.1% and as high as 66.7% depending on the phenotype. Noteworthy, 42.7% of the solved or likely solved patients underwent changes in medical management and outcome based on genetic test results. Conclusion Implementation of PRaUD and GTAC have enabled subspecialty practices advance expertise in RD where genetic counselors have not historically been embedded in practice. Democratizing access to genetic testing and counseling can broaden the reach of patients with RD and increase the diagnostic yield of such indications leading to better medical management as well as expanding research opportunities.