Diagnosis of Resistance to Thyroid Hormone due to a Rare Mutation in the Thyroid Hormone Receptor Beta Gene in a Patient Previously Presumed to Have Graves' Disease.

Clinicians may confuse an impaired sensitivity to thyroid hormone with hyperthyroidism and offer an inappropriate treatment. We report a diagnosis of resistance to thyroid hormone (RTH) caused by a rare mutation in the thyroid hormone receptor beta gene in a patient previously presumed to have Graves' disease. We have found only one published case of a novel point mutation, c.749T>C (p.Ile250Thr variant) associated with 50% reduction in thyroid hormone receptor binding affinity for triiodothyronine in the I250T mutant; it was found in this patient. A 66-year-old male veteran, with a history of non-ischemic cardiomyopathy and arrhythmias, was referred by a cardiologist with concerns for a possible thyrotropin (TSH) adenoma on account of elevated TSH and free thyroxine (FT4) levels. Pituitary imaging was negative. He was previously treated with radioiodine for presumptive Graves' disease in the civilian sector. Examination revealed a goiter with no nodules. Repeat TSH and FT4 levels were elevated and also free triiodothyronine (FT3) and reverse triiodothyronine. These findings and other test results were consistent with RTH, which was confirmed by genetic testing. Mutation analysis showed the patient to be heterozygous for the p.Ile250Thr variant. He later developed hypothyroidism. Resistance to thyroid hormone can be misdiagnosed as hyperthyroidism with consequent inappropriate treatment. Treatment is not needed in most RTH-beta patients. Thyroid ablation should generally be avoided. Clinicians must be cautious whenever they encounter concurrent elevation of TSH, FT4, and FT3. This RTH-beta patient has a rare I250T mutant of the thyroid hormone receptor beta gene, the second reported case in the literature.

Management of highly differentiated thyroid follicular carcinoma of ovarian origin with a minimally invasive approach.

•Peritoneal strumosis is highly differentiated thyroid follicular carcinoma of ovarian origin.•Minimally invasive surgical techniques for peritonectomy can resect extra-ovarian disease.•Multi-disciplinary collaboration allowed avoidance of thyroid ablation and thyroidectomy.

Analysis of current thyroid function test ordering practices.

RATIONALE: Current guidelines recommend thyroid stimulating hormone (TSH) alone as the best test to detect and monitor thyroid dysfunction, yet free thyroxine (FT4) and free triiodothyronine (FT3) are commonly ordered when not clinically indicated. Excessive testing can lead to added economic burden in an era of rising healthcare costs, while rarely contributing to the evaluation or management of thyroid disease. OBJECTIVE: To evaluate our institution's practice in ordering thyroid function tests (TFTs) and to identify strategies to reduce inappropriate FT4 and FT3 testing. METHODS: A record of all TFTs obtained in the San Antonio Military Health System during a 3-month period was extracted from the electronic medical record. The TFTs of interest were TSH, FT4, thyroid panel (TSH + FT4), FT3, total thyroxine (T4), and total triiodothyronine (T3). These were categorized based on the presence or absence of hypothyroidism. RESULTS: Between August 1 and October 31, 2016, there were 38 214 individual TFTs ordered via 28 597 total laboratory requests; 11 486 of these requests were in patients with a history of hypothyroidism. The number (percent) of laboratory requests fell into these patterns: TSH alone 14 919 (52.14%), TSH + FT4 7641 (26.72%), FT3 alone 3039 (10.63%), FT4 alone 1219 (4.26%), TSH + FT4 + FT3 783 (2.74%), and others 996 (3.48%); 36.0% of TFTs ordered were free thyroid hormones. Projected out to a year, using Department of Defense laboratory costs, $317 429 worth of TFTs would be ordered, with free thyroid hormone testing accounting for $107 720. CONCLUSION: Inappropriate ordering of free thyroid hormone tests is common. In an era of rising healthcare costs, inappropriate thyroid function testing is an ideal target for efforts to reduce laboratory overutilization, which in our system, could save up to $120 000 per year. Further evaluation is needed to determine strategies that can reduce excessive thyroid hormone testing.

Leadership Training in Endocrinology Fellowship? A Survey of Program Directors and Recent Graduates.

CONTEXT: There is growing recognition that more physician leaders are needed to navigate the next era of medicine. OBJECTIVE: To determine current opinions about leadership training in endocrinology fellowship programs. DESIGN/PARTICIPANTS: Twenty-seven-question survey addressing various aspects of leadership training to current nationwide fellowship program directors (PDs) and fellowship graduates since 2010. INTERVENTION: In partnership with the Endocrine Society, the electronic survey was advertised primarily via direct e-mail. It was open from March through July 2016. MAIN OUTCOME MEASURES: The survey addressed leadership traits, importance of leadership training, preferred timing, and content of leadership training. RESULTS: Forty-six of 138 PDs (33.3%) and 147 of 1769 graduates (8.3%) completed the survey. Among PDs and graduates, there was strong agreement (>95%) about important leadership characteristics, including job knowledge, character traits, team-builder focus, and professional skills. PDs (64.5%) and graduates (60.8%) favored teaching leadership skills during fellowship, with PDs favoring mentoring/coaching (75.0%), direct observation of staff clinicians (72.5%), and seminars (72.5%). Graduates favored a variety of approaches. Regarding topics to include in a leadership curriculum, PDs responded that communication skills (97.5%), team building (95.0%), professional skills (90.0%), clinic management (87.5%), strategies to impact the delivery of endocrinology care (85.0%), and personality skills (82.5%) were most important. Graduates responded similarly, with >80% agreement for each topic. Finally, most PDs (89%) expressed a desire to incorporate more leadership training into their programs. CONCLUSIONS: Our survey suggests a need for leadership training in endocrinology fellowships. More work is needed to determine how best to meet this need.