Recurrent Primary Hyperparathyroidism in Hyperparathyroid Jaw Tumor Syndrome: A Case Report.

Hyperparathyroidism occasionally develops secondary to genetic disorders, though CDC73-related diseases such as hyperparathyroid jaw tumor syndrome (HPT-JT) are among the least common. Typically, patients are identified in the third decade of life by characteristically early development of hyperparathyroidism, atypical pathology on histologic evaluation of parathyroid adenomas, or presence of concomitant tumors in the jaw, renal, or uterine anatomy. We report a case of a 60-year-old male who was identified as having hyperparathyroidism jaw tumor syndrome after presenting with recurrent hyperparathyroidism 10 years after parathyroid adenoma resection, which is likely the oldest age to date for diagnosis. We also review his clinical presentation, pathophysiology, genetic significance, and surveillance criteria relating to HPT-JT.

Osteogenesis Imperfecta Diagnosed in an Active Duty Female Due to CREB3L1 Heterozygosity.

INTRODUCTION: Osteogenesis imperfecta (OI) is a heritable, collagen-related disorder with varying degrees of disease severity and systemic involvement. The hallmark of OI is bone matrix fragility, but diverse effects related to structural integrity and impaired development of connective tissue can account for hearing loss, blue sclera, dentinogenesis imperfecta, frequent fractures, joint hypermobility, and cardiac valve or vessel fragility in some cases. There is emerging recognition of unique genetic mutations leading to OI including CREB3L1, which codes for an important transcription factor for differentiation of osteoblasts. CASE PRESENTATION: We present a case of OI diagnosed in an active duty female with multiple prior fractures and heterozygous CREB3L1, a rare cause of OI. CONCLUSION: This case highlights the importance of consideration of the variable phenotypes of OI and careful assessment of fracture history during evaluation at the Military Entrance Processing Station and subsequent encounters at military treatment facilities to improve readiness.

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.

Delayed Diagnosis of TSH-Secreting Adenoma Attributed to Worsening Post-Traumatic Stress Disorder Symptoms in a Military Veteran Because of Provider Anchoring Bias.

INTRODUCTION: Anchoring bias occurs when clinicians hold on to previously known information about a patient, with failure to consider the full realm of possibilities to explain new findings. We present a case of delayed diagnosis of thyroid-stimulating-hormone-secreting pituitary adenoma (TSHoma), a rare disorder, in a military veteran whose symptoms were misconstrued as being caused from worsening of his prior diagnosis of post-traumatic stress disorder (PTSD). Anchoring bias in this case led to 2-year delay in the correct diagnosis. METHODS: The clinical, laboratory, radiologic, and pathologic results are presented. RESULTS: We report a case of a 44-year-old retired male Army soldier with a prior diagnosis of PTSD who was evaluated for new symptoms including headaches, blurry vision, palpitations, and anxiety. These symptoms were considered by multiple services as worsening of his PTSD, with acknowledgment of normal thyroid hormone levels from 2 years prior, but with no levels at the time of the new presentation. Attempts to treat with standard PTSD therapies were unsuccessful. When thyroid hormone levels were eventually rechecked 2 years later, he was found to have an inappropriately normal level of thyroid-stimulating hormone (1.9 mcIU/mL) in the setting of elevated free thyroxine (2.30 pg/mL) and free triiodothyronine (5.8 ng/dL). With magnetic resonance imaging revealing a 1.4-cm pituitary macroadenoma, he was diagnosed with a TSHoma. A trial of octreotide, a somatostatin analog, was attempted to shrink the tumor size. However, because of the patient's intolerance of this medication, he underwent endoscopic transsphenoidal surgery as definitive treatment. Pathologic analysis of his tumor was consistent with TSHoma. On various follow-up intervals, he had normalization of thyroid function tests, no evidence of residual tumor on 6-month postoperative imaging, and reported improvement in his symptoms. CONCLUSION: This case highlights the details of a rare diagnosis of TSHoma, which has an estimated 1 to 2 cases per million in the general population and an unknown prevalence in the military population, in a veteran who had symptoms that were presumed to be worsening PTSD. While understandable to attribute new symptoms to pre-existing diagnoses such as PTSD, clinicians should consider the possibility of alternative diagnoses and perform the routine workup when indicated.

EVALUATION OF TOTAL DAILY DOSE AND GLYCEMIC CONTROL FOR PATIENTS TAKING U-500 REGULAR INSULIN ADMITTED TO THE HOSPITAL.

OBJECTIVE: Patients using U-500 regular insulin are severely insulin resistant, requiring high doses of insulin. It has been observed that a patient's insulin requirements may dramatically decrease during hospitalization. This study sought to systematically investigate this phenomenon. METHODS: We performed a retrospective chart review of patients with U-500 insulin outpatient regimens who were admitted to the San Antonio Military Medical Center over a 5-year period. Each patient's outpatient total daily dose (TDD) of insulin was compared to the average inpatient TDD. The outpatient estimated average glucose (eAG) was calculated from the glycated hemoglobin (HbA1c) and compared to the average inpatient glucose. RESULTS: There were 27 patients with a total of 62 separate admissions. The average age was 64.4 years, with a mean body mass index of 38.9 kg/m2 and eAG of 203 mg/dL (HbA1c, 8.7%, 71.6 mmol/mol). All patients were converted from U-500 to U-100 upon admission. The average inpatient TDD of insulin was 91 units, versus 337 units as outpatients (P<.001). Overall, 89% of patients received ≤50% of their outpatient TDD. The average inpatient glucose was slightly higher than the outpatient eAG, 234 mg/dL versus 203 mg/dL (P = .003). CONCLUSION: U-500 insulin is prone to errors in the hospital setting, so conversion to U-100 insulin is a preferred option. Despite a significant reduction in insulin TDD, these patients had clinically similar glucose levels. Therefore, patients taking U-500 insulin as an outpatient can be converted to a U-100 basal-bolus regimen with at least a 50% reduction of their outpatient TDD. ABBREVIATIONS: BG = blood glucose eAG = estimated average glucose HbA1c = glycated hemoglobin NPO = nil per os SPSS = Statistical Package for the Social Sciences TDD = total daily dose.

Visceral leishmaniasis with associated immune dysregulation leading to lymphoma.

OBJECTIVE: We describe an atypical presentation of visceral leishmaniasis (VL) complicated by Epstein-Barr virus (EBV)-lymphoproliferative disorder and angioimmunoblastic T-cell lymphoma in a U.S. Government contractor recently deployed to Iraq and Afghanistan. METHODS: We performed a search of PubMed (1966-2012) using the terms visceral, leishmaniasis, operation, iraqi, freedom, desert, storm, EBV, lymphoproliferative, angioimmunoblastic, and lymphoma. The purpose of the search was two-fold: to find reported cases of VL during U.S. military operations and to ascertain if lymphoproliferative disorder (specifically, because of EBV) was ever described as a sequelae of VL. RESULTS: Case series of VL acquired in the Middle East between 1990 and 2012 showed that while fever, abdominal pain, and hepatosplenomegaly were common signs and symptoms of VL, diffuse lymphadenopathy (our patient's presentation) was rare. Moreover, VL in and of itself lends to profound immune dysregulation, leading to a myriad of complications to include EBV-lymphoproliferative diseases. CONCLUSIONS: Diffuse lymphadenopathy because of VL is a very atypical presentation for infection acquired in the Middle East. Clinicians must be mindful of the extreme immune dysfunction that occurs as a result of this potentially fatal infection and the associated complications to include EBV-related lymphoproliferative disorders and lymphoma.

3-Dimensional morphometric analysis of murine bladder development and dysmorphogenesis.

BACKGROUND: Disorders of the urinary tract represent a major cause of morbidity and impaired quality of life. To better understand the morphological events responsible for normal urinary tract development, we performed 3-D reconstructive analysis of developing mouse bladders in control, mgb-/-, and Fgfr2(Mes-/-) mice. RESULTS: Detrusor smooth muscle differentiation initiated in the bladder dome and progressed caudally with the leading edge extending down the right posterior surface of the bladder. Gender-specific differences in detrusor smooth muscle development were observed during early embryonic development. Bladder trigone morphology transitioned from an isosceles to equilateral triangle during development due to the preferential lengthening of the urethra to ureter distance. The primary defect observed in mgb-/- bladders was a significant reduction in detrusor smooth muscle differentiation throughout development. Deviations from normal trigone morphology correlated best with VUR development in Fgfr2(Mes-/-) mice, while alterations in intravesicular tunnel length did not. CONCLUSIONS: Multivariate morphometric analysis provides a powerful tool to quantify and assess urinary tract development.