ResearchPad - case-reports Default RSS Feed en-us © 2020 Newgen KnowledgeWorks <![CDATA[Atherosclerotic spontaneous coronary artery dissection (A-SCAD) in a patient with COVID-19: case report and possible mechanisms]]> Spontaneous coronary artery dissection (SCAD) may be atherosclerotic (A-SCAD) or non-atherosclerotic (NA-SCAD) in origin. Contemporary usage of the term ‘SCAD’ is typically synonymous with NA-SCAD. COVID-19 could induce a vascular inflammation localized in the coronary adventitia and periadventitial fat and contribute to the development of an A-SCAD of a vulnerable plaque in a susceptible patient.Case summaryIn this report we describe a case of a COVID-19 patient with past cardiac history of CAD who was admitted for acute coronary syndrome (ACS). Coronary angiography demonstrated the culprit lesion in the proximal LAD that presented with a very complex and unusual morphology, indicative of an A-SCAD. The diagnosis of A-SCAD was supported by the presence of a mild stenosis in the same coronary segment in the last angiogram performed 3 years previously. He was successfully treated by PCI, had a favourable course of the COVID-19 with no symptoms of pneumonia, and was discharged from the hospital after two negative tests for SARS-CoV-2.DiscussionA higher index of suspicion of A-SCAD is needed in patients with suspected or confirmed COVID-19 presenting with ACS. The proposed approach with ‘thrombolysis first’ for treating STEMI patients with suspected or confirmed COVID-19 infection could be unsafe in the case of underlying A-SCAD. ]]> <![CDATA[Developmental brain abnormalities and acute encephalopathy in a patient with myopathy with extrapyramidal signs secondary to pathogenic variants in MICU1]]> Mitochondria play a variety of roles in the cell, far beyond their widely recognized role in ATP generation. One such role is the regulation and sequestration of calcium, which is done with the help of the mitochondrial calcium uniporter (MCU) and its regulators, MICU1 and MICU2. Genetic variations in MICU1 and MICU2 have been reported to cause myopathy, developmental disability and neurological symptoms typical of mitochondrial disorders. The symptoms of MICU1/2 deficiency have generally been attributed to calcium regulation in the metabolic and biochemical roles of mitochondria. Here, we report a female child with heterozygous MICU1 variants and multiple congenital brain malformations on MRI. Specifically, she shows anterior perisylvian polymicrogyria, dysmorphic basal ganglia, and cerebellar dysplasia in addition to white matter abnormalities. These novel findings suggest that MICU1 is necessary for proper neurodevelopment through a variety of potential mechanisms, including calcium‐mediated regulation of the neuronal cytoskeleton, Miro1‐MCU complex‐mediated mitochondrial movement, or enhancing ATP production. This case provides new insight into the molecular pathogenesis of MCU dysfunction and may represent a novel diagnostic feature of calcium‐based mitochondrial disease.

<![CDATA[Breast reconstruction in a patient with an implanted deep brain stimulator]]> Deep brain stimulators (DBSs) are sometimes used to treat refractory movement disorders such as Parkinson's disease. When DBSs are implanted in a subcutaneous pocket in the chest region, breast reconstruction becomes a challenge because monopolar electrocautery can lead to DBS dysfunction or brain tissue damage caused by heat. We report a patient with a DBS who underwent one-stage implant-based breast reconstruction. We switched off the DBS before surgery and used monopolar electromagnetic cautery with minimum power settings to undermine the subcutaneous pocket for the breast implant. The DBS was switched back on immediately after completion of the surgery. The patient's postoperative recovery was uneventful with the DBS fully functional.

<![CDATA[MitraClip<sup>®</sup> as bridging strategy for heart transplantation in Chagas cardiomyopathy: a case report]]> Patients with end-stage heart failure, suffering from severe pulmonary hypertension (PH) and elevated pulmonary vascular resistance, are not eligible for heart transplant due to high mortality risk and primary graft dysfunction. Severe PH may be favoured by functional severe mitral regurgitation, which is present in many cardiopathies like end-stage Chagasic cardiomyopathy.Case summaryWe present a case of a young man with end-stage heart failure secondary to Chagas cardiomyopathy with severe functional mitral regurgitation (FMR) and severe PH. The patient received percutaneous correction with MitraClip® system reducing PH and making him a suitable candidate for heart transplant.DiscussionIn patients with advanced heart failure, FMR, and severe PH, optimal treatment according to current guide lines is recommended. MitraClip® therapy appears to be safe and effective for control of severe PH as a bridge measure for cardiac transplantation. ]]> <![CDATA[MON-372 Treatment-Resistant Vitamin D Deficiency: Is It a Vitamin D Binding Protein Issue?]]> Introduction

Vitamin D is present in free and bound forms; the bound form is complexed mainly to vitamin D binding protein (DBP). Vitamin D levels are affected by age, pregnancy, liver disease, obesity, and DBP mutations. We report a patient with treatment-resistant vitamin D deficiency suggestive of a DBP with abnormal vitamin D binding.

Clinical Case

A 58-year-old Pakistani male with a history of hypertension, sleep apnea and hypogonadism presented to endocrine clinic with symptoms including fatigue, generalized muscle cramps, and joint pain. Evaluation of common causes of fatigue, such as anemia, thyroid dysfunction and adrenal insufficiency were ruled out with CBC, thyroid hormone levels and ACTH stimulation test results all within normal ranges. A 25-OH vitamin D level was profoundly low (4.2 ng/ml; normal 30-100), and a 1,25-OH vitamin D level was undetectable (<8 pg/ml; normal 18-72), leading to a presumptive diagnosis of severe vitamin D deficiency. However, his calcium, phosphorus, alkaline phosphatase and kidney function were in the normal range. Furthermore, the absence of osteoporosis, fracture history, or kidney stones suggested adequate vitamin D action at target tissues; PTH levels were high-normal to minimally elevated, ranging 70-94 pg/ml (12-88pg/mL). Aggressive supplementation with vitamin D3 at 50,000 IU 3 times a week and 5,000 IU daily failed to normalize 25-OH vitamin D (ranged 4.6-10ng/ml; normal 30-100) and 1,25-OH vitamin D levels remained undetectable. Addition of calcitriol resulted in mild hypercalcemia and was discontinued. Malabsorption did not appear to be a contributing factor, as a negative tTG antibody (with normal IgA) excluded celiac disease. Vitamin D metabolites levels measured with mass spectrometry showed undetectable 25-OH vitamin D levels (D2 <4 ng/ml, D3 <2 ng/ml; total <6ng/ml; normal 20-50) and 1,25-OH vitamin D levels (<8 pg/ml). Urine N-telopeptide, 24-hour urine calcium (177mg; 100-240) and bone-specific alkaline phosphatase were all normal. Repeat testing over more than five years showed similar results. DBP levels of 269 ug/ml [104-477] excluded DBP deficiency.

Clinical Lesson

Vitamin D deficiency is increasingly part of routine testing in internal medicine and endocrinology clinics, as is repletion with high-dose vitamin D. However, in rare cases such as this, relying on 25-OH vitamin D levels can be misleading, and supplementation unnecessary or potentially harmful. Thus, treatment decisions should consider the full clinical context and further evaluation performed when warranted. This patient’s labs are suggestive of an abnormality in the DBP, supporting future examination using molecular testing.

<![CDATA[SAT-081 Hidden in Plain Sight: Rethinking Our Approach to Allan-Herndon-Dudley Syndrome]]> Background: Allan-Herndon-Dudley (AHD) is a rare X-linked disorder with neurological manifestations secondary to a mutation in monocarboxylate transporter 8, a protein that transports T3 into nerve cells in the brain. AHD is characterized by increased serum free T3, decreased serum free T4 and normal serum TSH levels as well as the severe neurological manifestations including global developmental delay, hypotonia, and joint contractures (1). A phase 2 trial using triodyothyroacetic acid has shown promise in treating this disorder (2). We report on three children who were diagnosed by whole exome sequencing after presenting with neurological manifestations.

Clinical Cases: Patient 1 presented at 4 months to the neurology clinic for seizures. He had a normal newborn screen. Worsening developmental delays and central hypotonia prompted a brain MRI that revealed delayed myelination for age. At 6 months a chromosomal microarray and metabolic work-up were performed and were nondiagnostic. Whole exome sequencing was obtained at the age of 4.5 years revealing a mutation in the SLC16A2 gene (p.Ser210Tyr). Thyroid studies were consistent with the diagnosis.

Patient 2 presented to neurology at 9 months for developmental delay. A brain MRI was obtained which was within normal limits. At 14 months an acylcarnitine profile was obtained which indicated a possible CPT1 deficiency, which did not fit his clinical picture. Chromosomal microarray as well as work-up for inborn errors of metabolism were performed and were nondiagnostic. Thyroid studies were obtained which showed low free T4 with normal TSH. Whole exome sequencing was obtained at the age of 2.5 years, which revealed a mutation in SLC16A2 (p.R371C).

Patient 3 presented as sibling of patient 2 with known AHD syndrome. Testing for SLC16A2 was performed at the age of 5 months and returned positive for same mutation as sibling (p.R371C).

Conclusion: Allan-Herndon-Dudley syndrome is a rare neurological disease secondary to a mutation in the T3 transporter protein to nervous tissue. A high index of suspicion as well as thyroid studies should be obtained in patients presenting with central hypotonia and global developmental delay with normal newborn screens, particularly in states that use TSH as a screening test. This is especially important as treatments are becoming available that may help prevent neurological devastation seen in these patients.


1. Dumitrescu AM, Fu J, Dempsey MA, Refetoff S. MCT8-Specific Thyroid Hormone Cell-Membrane Transporter Deficiency. In: Adam MP, Ardinger HH, Pagon RA, et al., eds. GeneReviews®. Seattle (WA): University of Washington, Seattle; 1993

2. Groeneweg S, Peeters RP, Moran C, et al. Effectiveness and safety of the tri-iodothyronine analogue Triac in children and adults with MCT8 deficiency: an international, single-arm, open-label, phase 2 trial. Lancet Diabetes Endocrinol. 2019;7(9):695-706.

<![CDATA[MON-365 Novel Use of Abaloparatide to Augment Spinal Fusion in Patient Undergoing Cervicothoracic Revision Surgery]]> Objective To present a case of using Abaloparatide (PTHrP 1–34 analogue) to promote spinal fusion in a patient with history of cervical instability s/p multiple cervical operations with non-union. Case Presentation 66 year-old female with a history of multiple sclerosis, obesity and hypothyroidism underwent neurosurgical evaluation of neck pain. She was found to have cervical spinal stenosis causing neck pain, radiculopathy, motor deficits and ataxia. Initially underwent anterior cervical discectomy and fusion which temporarily alleviated symptoms before suffering nonunion. Subsequently underwent two additional surgeries which also eventually failed. She presented to our facility for revision corpectomy and spinal fusion. Given her history of nonunion, endocrinology was consulted for evaluation of metabolic bone disease. No known personal or family history of metabolic bones disease. No history of chronic steroid use. Initial endocrine evaluation excluded common pathologies. A decision was made to pursue anabolic osteoporosis therapy to attempt to augment the spinal fusion process. Patient started on Abaloparatide 80mcg daily 2 weeks post procedure with planned 12-week therapy course. Cervical CT at 3 and 6 months showed post-surgical cervicothoracic fusion with no signs of non-union. Discussion Abaloparatide is a 34 amino acid synthetic analogue of parathyroid hormone related peptide (PTHrP) which works by selectively activating PTH1 receptor found on osteoblasts. Currently anabolic therapies are only FDA approved for treatment of osteoporosis but there is reported off label use in cases of spinal fusions, arthroplasty and fracture healing. Studies have shown that presence of PTH and PTHrP are necessary for fracture healing. Animal studies have also shown that intermittent PTH promotes spinal fusion. This case represents a novel use for Abaloparatide to augment spinal fusion in a human clinical model. Conclusion Further studies are warranted to better understand mechanism of action, drug timing and duration for optimal treatment of anabolic therapies in bone fractures and healing. The use of anabolic therapies like Abaloparatide can be considered in patients undergoing spinal fusion surgery at high risk for non-union or undergoing revision for failed fusion.ReferencesO’Loughlin PF, Cunningham ME, Bukata SV et al. Parathyroid Hormone Augments spinal fusion, fusion mass, and fusion mass quality in a rabbit spinal fusion model. Spine 2009 January; 34: 121–130

<![CDATA[SAT-183 Right Adrenal Mass: An Unusual Presentation]]> Background: Adrenal masses may be incidentally found on imaging done for other reasons. The prevalence is 4.4% and up to 10% in older patients. Malignancy is an uncommon cause in patients without a known diagnosis of cancer. The frequency of primary adrenal carcinoma in patients with adrenal incidentalomas is approximately 2.0 to 5.0%; another 0.7 to 2.5% have non-adrenal metastases to the adrenal gland.

Clinical Case: 54-year-old man with Hepatitis C, prior alcohol abuse, and cirrhosis was found to have an increase in the alpha-fetoprotein (AFP) level from normal to 244 ng/ml (nl<15.1) over a 6-month period. Liver MRI was consistent with a cirrhotic liver without focal enhancing lesions and showed a new indeterminate 7.6 cm right retroperitoneal lesion arising from the adrenal gland compared to a prior CT of the abdomen a year early. Further imaging confirmed a 9.6 x 9 x 7.6 cm heterogeneously enhancing right adrenal lesion with a necrotic center, concerning for a primary malignancy; up to 11.1cm a month later. Patient referred to Endocrine for further evaluation. There were no symptoms suggestive of Cushing’s, pheochromocytoma or primary hyperaldosteronism. On exam there were no hypertension, dorsal fat pad, supraclavicular fullness, skin thinning or purplish striae. Biochemical workup was consistent with a non-functioning adrenal mass. DHEA-S was 11 (38-313 mcg/dl). CT-guided core needle biopsy of right adrenal gland was consistent with metastatic hepatocellular carcinoma. CT pelvis with contrast re-demonstrated the right adrenal mass now measuring 11.4 x 10 x 10 cm with new enlarged retrocaval lymph node and no focal arterially enhancing lesions. During embolization of adrenal lesion/ hepatic angiogram, multiple liver lesions not previously identified were reported with the largest of 2.9cm size and enhancing lesions in the sacrum and bilateral iliac bones; decrease in size of the necrotic right adrenal mass measuring 8.2 x 9.1 x 9.1 cm 1-month post-embolization. Patient following with Oncology.

Conclusion:Unilateral isolated adrenal metastasis from occult hepatocellular carcinoma (HCC) is extremely rare. Adrenal gland is the second most common site of hematogenous spread from HCC after the lung and has been found in up to 8.4% of cases at autopsy. In our case, the adrenal metastasis was the first clinical presentation of HCC with no evident hepatic lesion until 9 months of adrenal finding; few cases have been reported. Fine needle aspiration/needle biopsy of suspected malignancy is useful to detect primary tumor in case of metastatic disease that is silent at this stage. Adrenal metastasis in HCC are seldom treated by surgery as by the time of diagnosis the tumor is usually far advanced and/or patients are poor surgical candidates. This case highlights the importance of suspecting underlying HCC in isolated adrenal mass in a patient with high risk factors.

<![CDATA[SAT-278 Vaginal Cabergoline: A Simple Solution to a Challenging Problem]]> Introduction: Prolactinomas is a common endocrine disorder that can be associated with significant morbidity. Generally, prolactinomas are more responsive to pharmacologic treatment than any other types of pituitary adenoma. Dopamine agonists (DA), including cabergoline and bromocriptine, are the first line of treatment in all sizes of prolactinomas and they decrease both the secretion and size of these adenomas. However, treatment remains challenging for patients who are intolerance to those medications. Case: We report a 32-year-old Hispanic woman who presented with secondary amenorrhea, she was found to have hyperprolactinemia of 1496 mcg/L. MRI of the brain showed a pituitary adenoma measuring 2.7 cm with sella turcica invasion and mass effect on the optic chiasma. She failed the lowest doses of oral cabergoline and bromocriptine and underwent TSS and gamma knife radiosurgery. Given her persistent symptoms (marked depression, insomnia, fatigue, short-term memory loss, and lack of concentration along with constipation) and elevation of prolactin, she was started on low dose vaginal cabergoline leading to a marked improvement of her symptoms and a steady decrease in serum prolactin. Discussion: Despite the availability of DA as a first-line treatment of Prolactinoma, treatment remains challenging, given the commonly reported side effects for all DA. Cabergoline is oftentimes the treatment of choice due to efficacy and favorable side-effect profile. However, intolerance to those medications can lead to discontinuation of therapy and increase morbidity. Other strategies, including transsphenoidal surgery (TSS) or radiation therapy, have been considered for the minority of patients whose adenomas are resistant to DA or who cannot tolerate these drugs. Interestingly, tolerance to DA can be improved by administering the drug intravaginally, which can have similar efficacy to the oral route and a more favorable side-effect profile. However, only a few studies assessed the effectiveness and tolerance of vaginal DAs in hyperprolactinemic patients intolerant to oral medications, little evidence supports the use of intravaginal DA to improve drug tolerance, and further studies are necessary to determine the safety and efficacy of vaginal cabergoline.

<![CDATA[SUN-903 Insulinoma - a Tricker Diagnosis When Some Pieces Are Missing]]> Insulinoma is a rare pancreatic neuroendocrine tumour that secretes insulin, causing hypoglycemia. Because of the nonspecific symptoms, the diagnosis could constitute a challenge. Early detection is important to prevent serious consequences.

A 31-year old woman was admitted for prolonged fasting test. She had no relevant past medical or surgical history till eight months before, when she had an episode of generalized tonic-clonic seizure with loss of consciousness. At this time, she was taken to emergency, with identification of a hypoglycaemia of 33 mg/dL. Unfortunately this was undervalued and she was discharged with an appointment on a neurologist. After evaluation, she did an EEG, which was normal, and blood tests that identified a fasting glycemia of 50 mg/dL. By recommendation of her general practitioner, she began to monitor her glycemia during the day, identifying multiple glycemia <50mg/dL – in fasting and post-prandial period. After the first generalized seizure, she had multiple seizures, always associated with hypoglycaemia. During the night she had to wake up every two hours to eat, in order to prevent hypoglycaemia. Moreover, in the last 6 months, she augmented 12 Kg. She also described two episodes of behavioural changes with confusion and speech alteration.

She wasn’t under any medication that could be associated with hypoglycemias. Previous records showed she had a fasting glycemia of 50 mg/dL two years ago. When she was admitted to our department, besides she had eat one hour before, she had glycemia <55 mg/dL. Blood tests showed glucose level=22 mg/dL, insulin=39 μU/mL (normal range 2.6-24.9 μU/mL), C-Pep=0.90 ng/mL (normal range 1.1-4-4 ng/mL). Plasma B-hydroxybutyrate was negative. After Glucagon EV, glucose level increase to 53 mg/dL (>25 mg/dL). We also evaluated cortisol and growth hormone that were normal. Abdominal computed tomography scan with contrast demonstrated a well-defined hypervascular lesion involving pancreas tail. Abdominal MRI was also performed showing a hypervascular lesion involving pancreas tail with 11x21mm. Laparoscopic surgery to enucleate the lesion was made. Pathological evaluation revealed a well-differentiated neuroendocrine tumour (positive staining for synaptophysin, cromogranin and insulin) measuring 0.3 cm. The diagnosis of pancreatic insulinoma was confirmed. After surgery, the glucose level increased to the normal range. The patient is currently in 6 months follow-up with a good evolution.

The diagnosis of insulinoma requires high suspicion. In this case, the patient didn’t have the typical insidious neurogenic symptoms. There is a need to value neuroglycopenic symptoms associated with hypoglycemia, otherwise serious consequences can occur.

<![CDATA[MON-917 Carney Complex Due to a Contiguous Gene Deletion Syndrome (17q24.2-17q24.3)]]> Background

While genomic rearrangements of chromosome 17 are not uncommon, deletions of chromosome band 17q24.2-q24.3 are rare, and associated features include cardiac abnormalities, characteristic facial appearance, short stature, obesity, syndactyly, intellectual disability, seizures, delayed dentition, and features of Carney Complex. It has been suggested that the involvement of KCNJ2, PRKCA, CACNG gene cluster (CACNG1, CACNG4, CACNG5), and PRKAR1A genes contribute to this phenotype. A case of a child with a 3.7 Mb deletion at chromosome band 17q24.2-q24.3, as well as a 2.1 Mb gain at chromosome 17q22, is described.

Clinical Case

A now 6 year old female was born at 34 weeks gestational age with prenatal course complicated by oligohydramnios and intrauterine growth restriction. Birth weight was at the 9th percentile, and birth length was at the 92nd percentile. She was noted to have a patent ductus arteriosus (PDA), poor suck and swallow, and dysmorphic features. Chromosome microarray revealed a 3.7 Mb deletion at Chromosome 17q24.2-q24.3, involving KCNJ2, PRKCA, CACNG gene cluster (CACNG1, CACNG4, CACNG5), and PRKAR1A, as well as a 2.1 Mb gain at Chromosome 17q22, involving C17orf112 and KIP2B.

At 6 years old, she continues to be small for weight (-4.5 SDs), BMI (-4.22 SDs), and height (-2.5 SDs), though with appropriate pre-pubertal linear growth velocity. She is minimally verbal and continues to receive physical, occupational and speech therapies. Examination showed dysmorphic facial features, including triangular face with pointed chin, prominent forehead with low-set ears, retro-micrognathia, almond-shaped eyes with up-slanting palpebral fissures, bulbous nose, thin lips, and irregularly-shaped teeth. She had bilateral 5th digit clinodactyly, tapering of the distal aspects of bilateral first digits of the hands, and syndactyly of bilateral 2nd/3rd digits of the feet. She had scant freckling over the nasal bridge and cheeks, as well as freckles of the left arm, left groin, and back. She had no clinical stigmata of hypercortisolism. Echocardiogram continues to show a PDA with no cardiac myxomas. Thyroid ultrasound was normal. However, she does have mild hypercalcemia, most recently 2.61 mmol/L (2.15-2.55), and mildly elevated alkaline phosphatase of 341 U/L (96-297).


This case highlights a child with many of the previously reported findings associated with 17q24.2-q24.3 deletions. However, she also was noted to have a 2.1 Mb gain at chromosome 17q22 involving C17orf112 and KIP2B genes, which have not yet been associated with a clinical phenotype. It is therefore unclear if her phenotype is partially explained by the chromosomal gain. Clinicians should suspect a contiguous gene deletion syndrome in a patient with Carney Complex and atypical features. Patients with this condition have also been described as “Carney Complex-plus”, a term that we do not recommend be used.

<![CDATA[MON-256 A Late-Onset Case of Sheehan’s Syndrome Presenting as Life Threatening Adrenal Insufficiency]]> OBJECTIVE

Sheehan’s syndrome or postpartum pituitary necrosis, is an important but rare cause of hypopituitarism, caused due to severe postpartum hemorrhage. Seen more commonly in the developing world, it is less common in developed countries due to advanced obstetric practices. It can present acutely but more frequently has an insidious course (onset 10-20 years later) with variable hormonal deficiencies. Here, we report a late-onset case of Sheehan’s syndrome, 24 years after the incident event, presenting as life threatening adrenal failure.


A 48-year-old female with no significant past medical history was admitted to the hospital after being found unresponsive at home. She had not seen a physician for many years. She complained of weakness and lethargy for a week and recently established care with a primary care physician. The patient was severely hypotensive in the emergency department and had an elevated temperature of 101°F. Physical examination showed no significant abnormalities. CBC and metabolic panel were not significantly altered. CSF analysis and CSF/blood cultures were negative for any infection. TSH was 4.29 mIU/mL (0.27-4.20) but the total and free T4 (fT4) were severely low at 1.1 mcg/mL (4.6-12) and 0.24 ng/dL (0.93-1.70) respectively. On further questioning, patient reported severe postpartum hemorrhage 24 years ago, needing multiple units of blood transfusion. This was followed by inability to lactate and menstruate but was never worked up as she had not seen any physician all these years. Pituitary hormonal panel was obtained, demonstrating multiple hormonal deficiencies with fT4 severely low at 0.24 ng/dL, ACTH of 2.6 pg/mL (7.2-63.3), prolactin (PRL) 1 ng/mL (4.8-23.3) and insulin like growth factor-1 (IGF-1) low at 10 ng/mL (56-194). Cortisol level was elevated in the hospital due to administration of high dose IV steroids but a morning cortisol level obtained 1 week prior by her primary was 1.5 mcg/dL (10-20). Estradiol levels were low with FSH and LH levels inappropriately normal. MRI of the pituitary was obtained which showed an empty sella turcica. Patient was diagnosed as late-onset Sheehan’s syndrome. She was started on hormone replacement with hydrocortisone followed by levothyroxine and had marked improvement in her symptoms. She continues to do well.


Our patient presented late due to lack of medical care and awareness. A great number of patients with Sheehan’s diseasae go undiagnosed due to subtle clinical presentations, thus delaying treatment. It is imperative to diagnose this condition timely with appropriate obstetric/gynecological history and clinical suspicion to avoid late manifestations of the disease, especially adrenal crisis. Patients at risk need long term follow-up. Early treatment is necessary to improve quality of life and reduce morbidity and mortality associated with this condition.

<![CDATA[MON-345 Hypercalcemia After Placement of Antibiotic-Loaded Calcium Sulfate Beads]]> Calcium sulfate beads are used to fill bone voids in bone loss and nonunion, as well as in the management of bone and joint infections.1 Specifically, Stimulan® is an absorbed form of antibiotic-loaded calcium sulfate beads which delivers high local antibiotic concentrations for treatment of infection, but has also been associated with hypercalcemia in 5.4% of cases.1 Despite the significant morbidity associated with hypercalcemia, there is little published literature describing this important complication.

In our institution, five patients hospitalized between March 2019 and September 2019 with normal baseline calcium levels developed hypercalcemia as a complication of Stimulan® placement. Typically, 10 to 60 cc of Stimulan® were inserted in each surgery, with the exception of 120cc in one surgery. Three patients required a second surgery with antibiotic bead placement, and hypercalcemia occurred with both initial and subsequent surgeries. The onset of hypercalcemia varied from post-operative day one to four. The peak corrected calcium was 10.7-16.1 mg/dL which corresponded to ionized calcium of 1.57 to >2.20 mmol/L (normal 1.09-1.29 mmol/L). The patient with the highest bead volume had the highest calcium. Calcium peaked on post-operative days three to five. Patients were treated with intravenous fluids, furosemide, calcitonin and anti-resorptives including denosumab and zoledronic acid. Four patients required hemodialysis. Three patients required dialysis for symptomatic hypercalcemia and in one patient the indication was multifactorial. Calcium typically normalized by post-operative day 14 to 21, but hypercalcemia duration was unknown in two patients (one died; one had hypercalcemia on hospital discharge).

As illustrated in our cases, patients who develop hypercalcemia after their initial antibiotic bead placement may be at risk for recurrent hypercalcemia if additional surgeries use antibiotic beads. Higher bead volume may be associated with more significant hypercalcemia.1 Although previous cases have reported milder hypercalcemia, our cases demonstrate that hypercalcemia can be more severe and prolonged, necessitating dialysis in addition to traditional therapies. 1-3


1.Kallala R, Harris WE, Ibrahim M, Dipane M, McPherson E. Use of Stimulan absorbable calcium sulphate beads in revision lower limb arthroplasty: Safety profile and complication rates. Bone Joint Res. 2018 Nov 3;7(10):570-579.

2.Kallala R, Haddad FS. Hypercalcaemia following the use of antibiotic-eluting absorbable calcium sulphate beads in revision arthroplasty for infection. Bone Joint J. 2015 Sep;97-B(9):1237-41.

3.Carlson Jr. CR, Markulis E, Thompson E, Havill J. A novel case of hypercalcemia following the use of calcium sulfate beads. Nephrol Open J. 2015; 1(1): 17-19.

<![CDATA[SUN-483 A Retrospective Diagnosis of Malignant Struma Ovarii After Discovery of Pulmonary Metastases]]> Background: Malignant struma ovarii is a rare ovarian tumor that is histologically identical to differentiated thyroid carcinoma.1 We present a case of a struma ovarii that was recognized as being malignant only after the discovery of pulmonary metastases.

Clinical Case: A 29 year old female presented to the hospital with acute right lower abdominal pain, suspicious for ovarian torsion. She underwent urgent right salpingoopherectomy and pathology demonstrated a mature cystic teratoma with benign struma ovarii. Two years later, a CT of the abdomen incidentally revealed bilateral pulmonary nodules. Review of the imaging showed that these pulmonary nodules were also present two years prior, and had since become larger. Video-assisted thoracoscopic surgery was performed and lung biopsy was positive for well-differentiated thyroid carcinoma. The patient then underwent total thyroidectomy which revealed a 0.3 x 0.3 cm infiltrative papillary thyroid cancer, follicular variant, without lymphovascular invasion. Thyroglobulin level decreased from 169 ng/mL pre-operatively to 80 ng/mL post-operatively, but then continued to be variable ranging from 56 to 252 ng/mL (1.6-50 ng/mL). Thyroglobulin antibodies remained negative.

Pathology from right ovary was re-reviewed at a second institution and found to be consistent with highly differentiated thyroid carcinoma with characteristic nuclear features of papillary thyroid carcinoma.

A diagnostic whole body I-131 scan showed uptake within the thyroid bed, bilateral lung nodules, left distal thigh and right mid thigh. These thigh lesions were not visualized on lower extremity ultrasound. After dosimetry was performed, the patient received radioactive iodine-131 200 mCI. Post-therapy scan six days later demonstrated uptake in the thyroid bed, bilateral lungs and bilateral thighs. About five months later, thyroglobulin level had decreased to 0.4 ng/mL with a suppressed TSH. A repeat CT chest demonstrated that the lung nodules had all decreased in size, largest from 0.5 cm to 0.3 cm.

Conclusion: Careful examination of struma ovarii pathology should be performed to evaluate for malignant features since benign appearing histology can present diagnostic difficulty.2 In this case, thyroglobulin level was lower than reported in previous cases; however, sites of metastases were responsive to radioactive iodine therapy indicating well differentiated disease and a favorable prognosis.

References: 1. Goffredo P, Sawka AM, Pura J, Adam MA, Roman SA, Sosa JA. Malignant Struma Ovarii: A Population-Level Analysis of a Large Series of 68 Patients. Thyroid. 2015:25(2): 211-216.

2. Roth LM, Miller AW, Talerman A. Typical Thyroid-Type Carcinoma Arising in Struma Ovarii: A Report of 4 Cases and Review of Literature. Int J Gynecol Pathol. 2008:27(4): 496-506.

<![CDATA[SAT-379 Giant Parathyroid Adenoma]]> Giant parathyroid adenoma

Background: Primary hyperparathyroidism is the most common cause of hypercalcemia. On ultrasound PTH adenomas are typically homogenous, hypoechoic, oval or bean-shaped with peripheral vascularity.

Clinical Case: A 60 year old woman with a history of calcium oxalate nephrolithiasis presented with fatigue, worsening depression, body aches of 3 months duration. Labs showed a serum calcium 11.1 mg/dl (normal range 8.5–10.1 mg/dl), PTH 114.3 pg/ml (normal range 12–88 pg/ml), 25 OH Vitamin D 11 ng/ml (normal range above 29 ng/ml), alkaline phosphatase 137IU/L (normal range 27–120 IU/L), spot urine calcium 34.8 mg/dl, spot urine creatinine 92.1 mg/dl (estimated 24 hour urine calcium 415 mg/dl). She was started on Vitamin D 1000 IU daily. A PTH scan with SPECT/CT showed a right parathyroid adenoma and possible thyroid nodules. A neck ultrasound demonstrated a left 1.5 cm thyroid nodule and a right 3cm lesion. She underwent FNA of the left thyroid nodule and pathology was suggestive of a benign follicular nodule. She underwent parathyroid gland exploration with resection of the right lesion which was a 3.5 x 2.5 x 1.4 cm right superior 5.68 gm PTH adenoma. Postoperatively her serum calcium normalized to 10.1 mg/dl, PTH was 8.4 pg/ml, 25 OH vitamin D was 15 ng/ml. Her Vitamin D dose was increased.

Clinical Lessons: A normal parathyroid gland typically weighs 30–60 mg and is 3–4 mm in size. The differential diagnosis for large parathyroid lesions is parathyroid carcinoma vs giant parathyroid adenoma. Although there is not a definitive size cutoff to define giant parathyroid adenomas, a size greater than 3.5 gm has been used (1). On ultrasound giant parathyroid adenomas are homogenous with smooth borders whereas parathyroid carcinomas are large lobulated heterogeneous hypoechoic lesions (2). A depth/width ratio on ultrasound may be the ultrasound parameter with greatest discriminatory capacity as a depth/width ratio greater than or equal to 1 had 94% sensitivity and 95% specificity for parathyroid carcinoma (2). Whether vitamin D deficiency is a risk factor for the development of large parathyroid glands is controversial as there has been conflicting data on this (1,3). Because there is no serum calcium level that distinguishes parathyroid carcinoma from a parathyroid adenoma neck ultrasound may be a helpful tool in evaluating these patients.


1. Spanhemier PM, Stoltze AJ, Howe JR, et al. Do giant PTH adenomas represent a distinct clinical entity? Surgery. 2013 Oct; 154(4):714–719.

2. Hara H, Igarashi A, Yano Y, et al. Ultrasonagraphic features of PTH carcinoma. Endocr J. 2001 April 48(2):213–217.

3. Rao DS, Honasoge M, Divine GW, et al. Effect of vitamin D nutrition on PTH adenoma weight: pathogenetic and clinical implications. J Clin Endocrinol Metab. 2000 Mar 85(3): 1054–1058.

<![CDATA[MON-459 Bilateral Killian-Jamieson Diverticulum Mimicking Thyroid Nodules]]> Background

In recent years, incidence and prevalence of thyroid and extrathyroid lesion is increasing in the worldwide due to increase awareness of medical check-up, and widespread use of imaging techniques. A Killian Jamieson diverticulum (KJD), a rare type of hypopharyngeal pulsion diverticulum outpouching from the lateral wall of the proximal cervical esophagus, was incidentally detected and likely to be misinterpreted as a thyroid nodule while performing thyroid sonography. Clearly differentiate between those lesions is essential to avoid unnecessary invasive procedure. Here we report a typical case of bilateral Killian Jamieson diverticulum mimicking thyroid nodules.

Clinical case

A 57-year-old Taiwanese man was referred to our endocrine outpatient department for further evaluation of thyroid nodules. The lesions were discovered while sonographic examination performed in the clinic for routine medical check-up. He denied having dysphagia, epigastric pain, odynophagia, halitosis, chronic cough or acid regurgitation, body weight loss, fever and dyspnea. He had no previous systemic disease and no prior radiation therapy. He lives in Nangang District, Taipei city. His body weight was 70 kg and BMI was 25. An examination of head and neck was unremarkable. Laboratory data revealed normal thyroid function (TSH: 0.67 uIU/ml; range 0.4~4.0, free T4: 0.83 ng/dl; range 0.9~1.8 and aTPO <1.0 IU/ml; range <5). Thyroid ultrasonography demonstrated oval, hypoechoic nodule-like lesions containing bright foci with acoustic shadow in the posterior aspect of the both lobes of thyroid gland. The rest of thyroid glands were normal appearance. An esophagography was performed and showed two contrast-filling anterior outpouching lesions at both sides of the cervical esophagus, around C7 level and both lesions were showing anterior outpouching appearance, consider Killian-Jamieson diverticulum. Taken together, he was diagnosed as KJD and clinical follow-up alone is suggested.

Clinical lessons

KJD is usually incidentally detected and misdiagnosed as a thyroid nodule containing punctuate microcalcification foci as found in papillary thyroid carcinoma. To differentiate these nodules, real time sonographic examination is important. Although rare, non-thyroid lesions originating from the esophagus should be considered in the differential diagnosis of the thyroid nodules to avoid unnecessary invasive fine needle aspiration of thyroid gland.

<![CDATA[SAT-489 The Weary Beating Heart: Complications of Severe Hypothyroidism in a Mentally Ill Patient]]> Myxedema coma is a severe form of hypothyroidism representing a endocrinologic emergency. It requires prompt identification and management, as mortality rates exceed 50%. Its rarity stems from early recognition and thyroid medication availability. Its presentation can be non-specific, making it a challenging diagnosis.

This is a 67-year-old male inmate who was brought to the ED due to hypoactivity. He had a long-standing history of bipolar disorder, and hypothyroidism receiving oral levothyroxine.

On evaluation, patient had slowed mentation, GCS 14/15, sluggish reactive pupils, macroglossia, diffuse non-pitting edema, and delayed relaxation of the deep tendon reflexes in the extremities. Vital signs were abnormal; T: 35.2 °C, RR: 10 rpm, SpO2: 84 %, BP: 137/89 mmHg and HR: 42 bpm without chronotropism. 12-lead ECG revealed a complete atrioventricular block (AV block), with non-conductive P waves and idioventricular rhythm. Patient became hemodynamically unstable, transcutaneous pacemaker was placed. Dopamine infusion was initiated for adequate mean arterial pressure. Subsequently, a femoral transvenous pacemaker was performed. However, neurological deterioration prompted mechanical ventilation.

Exploring reversible AV block etiologies, laboratory results were markedly elevated for TSH at 184.775 ng/mL and decreased T4 at 1.5 ng/mL. Lithium levels were therapeutic.

Myxedema coma was identified and timely treatment was provided with intravenous thyroid hormone replacement, intravenous hydrocortisone, and supportive care. Patient was transferred to an ICU where TSH was monitored. After 5 days of receiving IV thyroid hormone replacement therapy, TSH improved. However, patient remained dependent on transvenous pacemaker, for which permanent pacemaker had to be placed. With further therapy, patient’s neurological status improved leading to extubation, and subsequent discharge.

Thyroid hormones play a vital role in the electrical current of the heart; hence, disturbances may potentiate cardiac arrhythmias. Sinus bradycardia and QT interval prolongation are commonly seen. As the severity of hypothyroidism progresses, high-grade AV block may be encountered, being third degree AV block the most challenging and severe.

Patients with high-degree AV block in the setting of reversible etiologies, commonly, do not need a permanent pacemaker. On the contrary, our patient developed complete dependence of the pacemaker for adequate cardiac synchrony, despite adequate replacement therapy.

With this case, we illustrate the importance of a thorough evaluation in patients with AV block of unknown origin, with special attention to reversible etiologies. Thyroid function abnormalities should be promptly identified and managed for better outcomes. Furthermore, it may decrease cardiac death risk and the need for invasive procedures, such as permanent pacemaker placement.

<![CDATA[SUN-188 Intra-Articular Triamcinolone Injections - a “Slipped” Cause of Cushing’s Syndrome]]> Background:

Triamcinolone injections are used to treat various orthopedic and rheumatologic conditions; their effects on the hypothalamic pituitary adrenal axis have not been well characterized.

Clinical Case:

A 14 yo female was referred to our clinic for evaluation of low TSH (0.16 µIU/mL) and possible hyperthyroidism. There was no goiter and she appeared euthyroid and had normal free T4 (1.01 ng/dl) but she had typical features of Cushing syndrome (CS), including round facies, thinning of hair, fatigue, truncal adiposity, violaceous striae, facial hirsutism and oligomenorrhea. She was previously healthy and participated in many sports. She did not report any history of exogenous glucocorticoid use but the fasting ACTH (4 pg/ml) and cortisol (0.1 µg/dl) levels were suppressed. Subsequent chart review revealed that she received intra-articular Triamcinolone (TA) to treat “slipping rib” syndrome. This included 3 injections of Kenalog 40 mg/mL, the last in July 2019. Her cumulative TA dose was 440 mg, the equivalent of prednisone 550 mg. Triamcinolone acetonide 1.4 mcg/dL (normal 0-0.1, analyzed by LC-MS/MS) was detected in the urine over 3 months after her last injection.


- Levels of ACTH and cortisol can be suppressed for several months after intra-articular corticosteroid injections, placing the patient at subsequent risk for adrenal crisis

- In some cases, high doses of Triamcinolone administered by intra-articular injection can cause clinical Cushing syndrome

<![CDATA[SAT-265 An Asynchronous Double Growth Hormone Secreting Pituitary Adenoma as a Cause of Rapid Tumor Regrowth After Initially Successful Surgery]]> Background. Double pituitary adenomas are a rare entity, which requires clinical attention and a careful follow-up. Case report. A 37-year-old man presented with left-sided painful gynecomastia. He denied typical symptoms of excessive growth hormone (GH) secretion and did not show any acromegalic features. Due to low testosterone and LH levels with mild hyperprolactinaemia, the patient was referred to pituitary MR, which revealed an 11x13 mm right-sided sellar tumor. An increased IGF-1 was noted subsequently (1482 ng/mL; N 109-284 ng/mL), together with the lack of GH suppression in OGTT. Transphenoidal resection of pituitary tumor performed in 2012 led to biochemical (IGF-1 260 ng/mL, GH 0.08 ng/mL) and radiological remission of the disease. A histopathology report revealed a densely granulated somatotropic pituitary adenoma with mild nuclear atypia, expressing somatostatin receptors [sstr2A (+), sstr5 (+/-)]. Due to gradually increasing IGF-1 levels (with low, although rising, GH values ranging from 0.07 to 0.92 ng/mL) in subsequent years, OGTT was repeated in 2015, showing appropriate GH suppression. In 2016, however, acromegaly recurrence was confirmed both biochemically (increasingly high IGF-1 - 664 ng/mL - and unsuppressed post-OGTT growth hormone) and in MR imaging. The patient was reoperated in June 2017. The second histopathology reported an oncocytic somatotropic acidophil stem cell pituitary adenoma with Ki-67 >3% and mitotic figures. Subsequent anterior pituitary lobe insufficiency (adrenal, thyroid and gonadal axis) was found and adequately treated. Complete tumor removal was confirmed by MR performed three months after repeated surgery, as well as a low GH level (0.97 ng/mL), although accompanied by borderline IGF-1 values (277 ng/mL). Eighteen months after surgery, the recurrence of acromegaly was again confirmed, with adenoma regrowth and increased GH (2.31 ng/mL) and IGF-1 (474 ng/mL) levels. Octreotide LAR was started (despite retina wrinkling which was observed when lanreotide was administered before the first surgery), which led to a normalization of GH (0.96 ng/mL) and IGF-1 levels (152 ng/mL), as well as partial pituitary tumor regression after six months therapy. Conclusion. In a case of GH-secreting pituitary adenoma recurrence after apparent successful surgery, a double pituitary tumor with more aggressive histology should be considered.

<![CDATA[MON-480 Isolated Hyperthyroxinemia - Does Everyone Needs Treatment?]]> Background: Raised free thyroxine (T4) with normal thyroid stimulating hormone (TSH) levels should be identified and interpreted with caution. Some of these conditions do not need treatment. We present three cases with similar biochemical abnormalities from three different causes.

Case 1: A 62-year-old clinically asymptomatic lady was referred to us with Free T4 34.9 pmol/L (10.0 – 24.0 pmol/L), TSH 0.81 mU/L (0.2 – 5.0 mu/L) and negative TSH receptor antibodies (<0.9 IU/L). She was trialled on antithyroid drugs for 6 months. Her Free T4 stayed elevated between 29.0 – 35.0 pmol/L with normal TSH. We worked up for assay interference by running tests on two analysers, Roche Cobas e801 and Siemens ADIVA Centaur CP, both yielded similar results. Alpha1 glycoprotein subunits and SHBG were normal with clinical euthyroid status making TSHoma less likely. Serum protein electrophoresis did not detect any abnormal albumin. We were unable to perform equilibrium dialysis due to non-availability of facility at our centre. Due to strong clinical suspicion and family history of thyroid dysfunction that never needed a treatment, we tested her genetically for familial dysalbumineic hyperthyroxinemia (FDH) using mutation surveyor and fluorescent sequence analysis showed her to be heterozygous for c.725G>A ALB variant confirming diagnosis of FDH.

Case 2: A 65-year-old clinically asymptomatic lady, was referred to us with Free T4 28.8 pmol/L (10.0 – 24.0 pmol/L) and TSH 2.50 mU/L (0.2 – 5.0 mu/L). Given inappropriately normal TSH levels, we repeated her TFTs using 3 different analysers, Roche cobas e801, Siemens ADIVA centaur CP and Abbot ARCHITECT i1000SR. Roche and Siemens assays yielded similar results, however Abbot assay showed normal thyroid function tests with TSH 1.01 mu/L (0.4-5.0 mu/L) and free T4 18.7pmol/L (9.0-19.0 pmol/L), confirming assay interference. As Siemens and Roche uses streptavidin-biotin immobilizing system while Abbot uses a magnetic bead-based capture system, the abnormal results could be due to biotin interference.

Case 3: A 65-year-old lady, clinically asymptomatic was referred to us with Free T4 29.2 pmol/L (10.0 – 24.0 pmol/L) and TSH 1.59 mU/L (0.2 – 5.0 mu/L), 3 months after stopping amiodarone, which she took for 3 weeks for atrial fibrillation. This was thought to be due to amiodarone, owing to its long half-life of 58 days. We repeated thyroid function tests in 3 months from first clinical encounter i.e. 6 months after stopping amiodarone that showed Free T4 24.2pmol/L and TSH 2.30 mU/L and repeated further 3 months later that were normal, confirming amiodarone induced abnormal biochemical profile requiring no treatment.

Conclusion: Hyperthyroxinaemia with normal TSH need to be interpreted with caution as illustrated above. Some of them do not need treatment and inappropriate interpretation can potentially cause anxiety for the patient and harm due to unnecessary treatment.