bluuebunny/crossref_metadata_2025 huggingface dataset:
ODP104 Isolated familial hypoparathyroidism with Tbx1 mutation in Korea
Authors: Lee Seunghyun , Hong Namki , Shin Sungjae , Rhee Yumie
Published: November 2022

Background

Non-surgical hypoparathyroidism due to lack of PTH secretion or action is uncommon disorder characterized by hypocalcemia and hyperphosphatemia. Familial hypoparathyroidism is classified into syndromic hypoparathyroidism, including DiGeorge syndrome and isolated familial hypoparathyroidism. Deletion of Tbx1 is the cause of DiGeorge syndrome characterized by hypoparathyroidism, immunodeficiency, and congenital heart disease. Most cases of isolated familial hypoparathyroidism are caused by GCM2, SOX3, CASR, Gα11, and PTH. Isolated familial hypoparathyroidism also can be caused by mutations in TBX1 genes(1). In this study, we also identified a splice-altering mutation in TBX1 (c.1009+1G. C), leading to skipping of exon 8 in an idiopathic hypoparathyroidism patient in Korea.

Case

A 35-year-old woman was referred to our hospital in March 2016 for hypocalcemia. It had been detected after recurrent abortion and seizure during exercise. Her second older brother was diagnosed as idiopathic hypoparathyroidism with no abnormalities in the TUPLE1 FISH test and chromosome test eight years ago. Initial laboratory studies showed low corrected calcium (7.4 mg/dL, normal range: 8.5-10.5), hyperphosphatemia (4.7 mg/dL, normal range: 2.5-4.1), inappropriately normal parathyroid hormone (18.4 pg/mL, normal range: 15-65), corresponded to hypoparathyroidism. A brain computed tomography showed bilateral globus pallidi calcification. She had no history of renal stones or cataracts. She did not show congenital anomaly including cleft palate, facial dysmorphism, conotruncal heart defects, and immunodeficiency, and neither did her brother. Molecular diagnoses were analyzed by whole-exome sequencing, identifying the heterozygous TBX1 mutation (c.1009+2T/A). She was treated with conventional therapy such as calcium and calcitriol. The patient gave birth 18 months after referring to our hospital, and the child did not show any abnormalities in calcium or phosphorus. During a follow-up of 6 years, the patient had no additional symptoms related to hypocalcemia with the lower normal range of calcium and normal phosphorous.

Conclusion

We identified a rare heterozygous TBX1 mutation in a patient with isolated familial hypoparathyroidism in Korea. References1. Li D, Gordon CT, Oufadem M, et al. Heterozygous Mutations in TBX1 as a Cause of Isolated Hypoparathyroidism. The Journal of Clinical Endocrinology & Metabolism.2018;103(11): 4023-4032.

Presentation: No date and time listed
ODP105 Long-Term Bone Mineral Density Changes for Amputees Following Transcutaneous Osseointegration
Authors: Vrazas Elisabeth , Hoellwarth Jason , Chavan Anuj , Alam Shafaf , Lu William , Oomatia Atiya , Muderis Munjed A , Preda Veronica
Published: November 2022

Background

Transcutaneous osseointegration (OI) is an emerging rehabilitation alternative for amputees who have difficulty with traditional socket prostheses. OI inserts a metal implant into an amputated extremity's bone, through a permanent skin stoma, allowing direct connection of a prosthetic limb to the patient's skeleton. OI implants have been shown to provide better mobility, quality of life, and address issues such as poor prosthesis fit, dermatitis, and excessive sweating. (Kunutsor et al, 2018) Direct skeletal loading facilitated by OI should improve bone health, but this question has not been evaluated over the long term.

Aim

This study compared the preoperative and minimum five-year postoperative femoral neck bone mineral density (BMD) change in amputees, measured on the amputated and intact side, using dual-energy X-ray absorptiometry (DEXA).

Methods

A retrospective cohort review identified 45 lower limb amputees who had DEXA evaluation prior to transfemoral or transtibial OI implants. Six patients had follow-up DEXA performed at least five years postoperatively. These six patients’ charts were retrospectively reviewed for demographic data, FRAX specific criteria, and adverse outcomes which could have impacted time spent using the OI prosthesis. Bone density, T-scores, and Z-scores were evaluated for all BMD measurements. Comparison of mean values was assessed using Student's t-test.

Results

(Note: Of the 45-patient cohort, 6 patients have had a 5-year DEXA recorded at the time of abstract submission. Data collection is ongoing and is expected to be at least 15 patients at study completion) This cohort includes three males and three females, five transfemoral and one transtibial, aged between 50 and 68 (mean = 51 ± 13) years at the time of implant surgery. For the amputated limb, there was a non-significant increase from0.540 ±0.155 g/cm 2 to 0.707 ±0. 094 g/cm 2 (p = 0.105) . The Z-score increased -3. 067 ±1. 089 g/cm 2 to -1.200 ±0.540 g/cm 2 (p = 0. 024). The T-score increased from -3.933 ±1.193 g/cm 2 to -2.333 ±1.193 g/cm 2 (p = 0. 049).

Conclusions

Although this is a small cohort, there were statistically significant increases of the Z-score and T-score when measured at least five years after osseointegration.

Presentation: No date and time listed
PSAT173 Evaluation of efficacy and safety of different doses of cholecalciferol supplementation in healthy adults- a single blind randomized control trial.
Authors: Sidana Shivani , Ganie Mohammad Ashraf , Bhat Moomin Hussain
Published: November 2022

Background

Vitamin-D (VD) has been shown to be associated various skeletal and non-skeletal benefits. Despite synthesis in the body, 70-80% of population has been found to be VD deficient, due to poor sunlight exposure, increasing environmental pollution, indoor habits etc. Institute of medicine recommended daily allowance (RDA) of 600 IU/day, while Endocrine society recommends a daily intake of 1500-2000 IU/day for age group 19-70 years. In the absence of mandatory food fortification with VD, supplementation is an effective alternate strategy to mitigate the issue of VD deficiency. Optimal supplementation dose for achieving and maintaining sufficient VD levels in Indian adults is still not known.

Aim

To evaluate optimal dose of oral cholecalciferol supplementation to achieve and maintain serum hydroxy vitamin D [25(OH)D] sufficiency in Indian adults.

Methodology

In this single center blinded randomized control study, a total of 168 healthy subjects age (18-60 years) were randomized in four groups (A, B, C and D). Subjects were supplemented with 600, 1000, 2000 IU/day and 60,000 IU/month of cholecalciferol to group A, B, C and D in two phases, winter phase and summer phase of three months each with a washout period of three months in between. Serum 25(OH)D, iPTH, calcium, phosphorus, alkaline phosphatase levels and urine calcium/creatinine ratio was assessed at baseline, 12 weeks, 24 weeks and 36 weeks.

Results

The mean increase in serum 25(OH)D following supplementation was 21.67±6.54, 32.50±7.33 and 27.72±5.64 ng/ml after three months, 25.96±7.95, 31.52±8.95, 48.05±9.88 and 40.73±12.96 ng/ml after six months of supplementation in group A, B, C and D respectively, with 9.1%, 16.2%, 50% and 39.5% of subjects achieved levels of >30ng/ml after three months and 27.3%, 59.5%, 93.8% and 76.3% after six month of VD supplementation in group A, B, C and D respectively. Supplementation with VD at various doses raised serum 25(OH)D levels in a dose dependent manner, with an average rate constant of 1.79±0.79 ng/ml/100IU/day. Higher BMI and baseline serum 25(OH)D levels negatively associated with gain in serum VD levels. Overall, secondary hyperparathyroidism decreased from 29.3 to 8·6% post-supplementation. No significant difference in urinary Ca/Cr ratio between baseline and post supplementation was noted.

Conclusion

In accordance with the level of treatment, various oral cholecalciferol regimens improved serum 25(OH)D levels in all the subjects, but the 2000 IU/day achieved the best results while being safe. Daily supplementation with 2000 IU of oral cholecalciferol does meet the RDA requirement of achieving serum 25(OH)D of >30ng/ml in 94% subjects. Whether RDA of 600 IU/day, recommended by IOM is sufficient to combat VD deficiency in our population, is debatable.

Presentation: Saturday, June 11, 2022 1:00 p.m. - 3:00 p.m.
PSAT179 Hypercalcemia Associated with Antibiotic-Impregnated Calcium Sulfate Beads
Authors: Abrams Jennifer , Decamps Scarlett , Gliwa Agnieszka , Singh Shikha
Published: November 2022

Introduction

Hypercalcemia is an electrolyte disturbance with a wide spectrum of symptoms ranging from asymptomatic, to coma and arrhythmia. Primary hyperparathyroidism and malignancy are the most common causes of hypercalcemia, accounting for up to 90% of cases. Here we discuss transient hypercalcemia associated with Stimulan antibiotic-impregnated calcium sulfate (AICS) beads implanted after an orthopedic procedure.

Case

A 63 year old female with a past medical history of hypertension and type 2 diabetes mellitus presented to the hospital with signs and symptoms of infection of her left prosthetic hip which had been inserted a few weeks earlier. She was admitted for an orthopedic procedure to replace the prosthetic joint and insert antibiotic-impregnated calcium sulfate beads. The procedure was successful and the patient was admitted to the Medicine Floor for monitoring. The day after the procedure the patient was noted to be lethargic. CT head was unrevealing and after de-escalation of narcotics, the patient remained alert but difficult to arouse. Further workup revealed a Calcium of 14.5 (15.1 corrected for Albumin of 3.3). She reported bone pain, constipation, and abdominal discomfort. The patient was immediately treated with intravenous hydration as well as Calcitonin 300 mg within the first 48 hours. Initial workup revealed non-PTH-mediated hypercalcemia. Parathyroid Hormone Related Peptide, Vitamin D, Serum Protein Electrophoresis, and Angiotensin-Converting Enzyme were all normal. Sarcoidosis, Multiple Myeloma, and malignancy were ruled out. Given an unrevealing workup, this transient hypercalcemia was determined to be caused by AICS beads. Over the course of 6 days, following IV fluid resuscitation and calcitonin the patient's mental status and calcium level and her symptoms resolved.

Discussion

AICS beads are a well-accepted adjuvant therapy in preventing and treating prosthetic joint infections. There are few reported cases of transient hypercalcemia due to AICS beads, more commonly seen with a higher number of beads used. While hypercalcemia seems to be a rare side effect, if severe it has the potential to be life-threatening. Severe cases of hypercalcemia may lead to cardiovascular compromise, altered mental status, encephalopathy, and pancreatitis. Patients with calcium levels greater than 14 or greater than 12 with symptoms should be treated aggressively to avoid serious complications. Initial management is aimed at elimination of calcium, decreased absorption of calcium, and repletion of intravascular volume.Awareness of the risk of hypercalcemia associated with AICS bead use and careful post-operative monitoring can assist in early identification and management of this potentially fatal adverse effect.

Presentation: Saturday, June 11, 2022 1:00 p.m. - 3:00 p.m.
PSAT180 Fibrodysplasia Ossificans Progressiva (FOP) A Case Series
Authors: Almonaei Khulod , M’Hiri Iman , Al-Ali Dalal , Dandurand Karel , Khan Aliya A
Published: November 2022

Case 1 (TTD 30yrs): 71-year-old female presented with decreased mobility over the past 15years. She had malformations of the great toes. She developed "golf ball" sized calcified lumps in the upper ribs, clavicle and sternum which began to form at the age of 32 and were removed surgically. Calcified soft tissue was noted over the shoulders, spine and thighs. No history of hearing impairment. Radiographs showed areas of abnormal bone growth. CT scan of abdomen showed calcifications within the gluteal and thigh muscles The lab profile was normal. DNA analysis in process.Case 2 (TTD 13yrs): A 53-year-old female with symmetric malformations of the great toes presented with a lump behind her knee in her 40's with histopathology consistent with calcium deposition. She was diagnosed initially with dermatomyositis and treated with steroids. No hearing impairment The lab profile and abdominal CT scan were unremarkable. DNA analysis in the process.Case 3: (TTD 25yrs) A 66 yr old female presented with multiple lesions of heterotopic ossification lesions which began at the age of 41 at sites of trauma in the right deltoid, right hip, right calf. These were surgically removed. Also had a malformation of the great toes bilaterally. Received radiation post excision of the calcified lesion in April 2021. A skeletal survey showed myositis ossificans. DNA analysis in the process. References 1. Pignolo, R.J., Shore, E.M., Kaplan, F.S., 2013 Pediatric Endocrinology Reviews 10902) 437-448. Fibrodysplasia Ossificans Progressiva: Diagnosis, Management and Therapeutic Horizons2. Therapeutic advances for blocking heterotopic ossification in fibrodysplasia ossificans progressiva.Wentworth KL, Masharani U, Hsiao EC.Br J Clin Pharmacol. 2019 Jun;85(6): 1180-1187. doi: 10.1111/bcp.13823. Epub 2019 Jan 6.3. Fibrodysplasia ossificans progressiva: lessons learned from a rare disease.Akyuz G, Gencer-Atalay K, Ata P.Curr Opin Pediatr. 2019 Dec;31(6): 716-722.

Presentation: Saturday, June 11, 2022 1:00 p.m. - 3:00 p.m.
PSAT187 Bone Mineral Density Normalization in a Young Patient With a Physician Guided Nutrition and Exercise Intervention.
Authors: Caputi Rafael , Valderrãbano Rodrigo
Published: November 2022

Lack of consensus on the type and amount of exercise to safely increase bone mineral density (BMD) prevents many clinicians from providing detailed recommendations on how to increase physical activity. We present a young man with low bone density, who was initiated on a non-pharmacologic regimen of physician-directed high intensity resistance exercise (HIRE) and adequate nutrition support.

A 28-year-old male was found to have a low bone density attributed to autoimmune hepatitis, chronic systemic glucocorticoids used for 7 years and poor lifestyle habits. Despite stopping steroids since 2014, his BMD was worsening in the femoral neck (FN) to 0.723 g/cm2 (Z-score -2.7) in 2018, representing a 3% loss from the prior year. His BMD in the total hip (TH) site also decreased from 0.775 g/cm2 (Z-score -2.1) to 0.751 g/cm2 (Z-score -2.3) in the same 1-year period (3.1% loss). The patient had no personal or family history of fractures, smoking or alcohol use, but did have a sedentary lifestyle and ate highly processed foods with poor nutritional value.

After unremarkable evaluation for further causes of ongoing bone loss, in 09/2018 we initiated a tailored progressive high intensity resistance exercise (HIRE) program. Major compound movements such as squats, deadlifts, military press, and dynamic impact exercises such as medicine ball throws, jumps and farmers carry were performed 3 times a week, maintaining an intensity of >80% 1-repetition maximum with 5 repetitions. The HIRE program was modified every 3 months at endocrinology clinics. After the first year, one on one training with expert kinesiologist was introduced to correct exercise form. Nutrition recommendations were simple, focused on increasing weight, adequate dairy intake, and protein intake at 1.6g/kg of body mass. He maintained adherence to exercise and diet throughout 2018-2021.

BMD measured by the same Lunar iDXA increased by 10.8% at the FN from 09/2018 to 09/2019. As often occurs in clinical practice, the patient had bone density scans performed at various centers throughout his years of care. Using BMD standardization algorithms, we estimate that after initiation of our HIRE and nutrition intervention, BMD increased at all sites (LS +9.7%, FN +17.7%, TH +12.7%) when compared to pre-intervention values. His most recent DXA scan on 12/2020 (Hologic Discovery) revealed a Z-score of -1.7 (LS), -1.5 (FN) and -1.5 (TH).

We conclude that our HIRE and nutrition intervention lead to clinically significant bone density increases which are expected to lead to a reduction in fracture risk. Additionally, improved lifestyle habits and nutrition are expected to have multiple benefits beyond bone health. It is important that clinicians learn about different types of exercise programs to properly guide patients which could benefit. A HIRE program should be considered in select, able bodied patients with low bone density.

Presentation: Saturday, June 11, 2022 1:00 p.m. - 3:00 p.m.
PSAT193 Skeletal Fluorosis due to Inhalant Abuse
Authors: Pedraza Lina , Pesantez Maria Jose , Mulukutla Surya
Published: November 2022

Introduction

Skeletal fluorosis (SF) is a rare toxic osteopathy characterized by massive bone fixation of fluoride. It is prevalent in India, China, and Africa due to fluoride water contamination, high consumption of brick tea, or even fluoride air pollution in industrialized areas.

In the United States, it does not constitute a public health issue; however, it has been found recently in individuals who inhale high amounts of recreational fluoride. The mechanism of fluoride toxicity on the bone is attributed to its anabolic effect, and patients usually present with diffuse and chronic bone pain, non-vertebral fractures, and hyperparathyroidism.

Case

We present the case of a 39-year-old woman, who presented with bone pain and joint stiffness leading to impaired gait. She was previously seen by neurology, rheumatology, and oncology due to concern for neuropathy, rheumatoid arthritis, or possible occult malignancy but was referred after an inconclusive workup.

Her past medical history was significant for a motor vehicle accident resulting in chronic back pain. She began using painkillers, but eventually, she turned to inhalants to help with pain management and depressive symptoms. Her inhalant of choice was keyboard cleaner. Slowly, she began noticing diffuse bone pain, muscle weakness, and difficulty walking that required her to use crutches. She continued to abuse inhalants 2-4 cans per day for about 5 years until March 2021. Physical exam was relevant for multiple bony prominences bilaterally on the elbows and thoracic spine. She also had a diminished range of motion of her 4 limbs, being unable to fully extend arms or legs. Lab evaluation showed elevated alkaline phosphatase 971, normal AST/ALT, vitamin-D 52, normal serum calcium and PTH, elevated random urine fluoride 23 mg/L (<3.2), elevated osteocalcin 292ng/ml (<32), and elevated N-telopeptide 2283 BCE/mmol cr (<64). Upper extremity x-rays showed evidence of diffuse mature periosteal reaction involving the proximal humerus, radius, ulna, and metacarpals and prominent medial and lateral epicondylar enthesopathy consistent with fluorosis.

Discussion

Skeletal fluorosis should be suspected in patients at risk for fluoride inhalation. Occupational exposure including huffing was key in this case. Diagnosis was confirmed by the detection of excess fluoride in the blood and urine.

Currently, the only accepted treatment is to stop further ingestion or inhalation of fluoride. The half-life of retained fluoride in the bone is about 7 years. Unfortunately, there is no antidote for SF. One theoretical therapy is teriparatide, which might accelerate bone turnover and release skeletal fluoride. Further research is needed to identify more treatment options for patients diagnosed with this condition as the substance abuse crisis worsens in many developed countries. This case also emphasizes the importance of a thorough history prior to undertaking costly, time-consuming medical workups.

Presentation: Saturday, June 11, 2022 1:00 p.m. - 3:00 p.m.
PSAT198 Atypical Parathyroid Adenoma is an Unusual Cause of Primary Hyperparathyroidism
Authors: Limon Makarem , Ali Mariam Murtaza , Banisaeed Nassim , Shannon Shannon , Sharma Arun , Jakoby Michael
Published: November 2022

Background

Atypical parathyroid adenomas (APA) are considered tumors of uncertain malignant potential and have a biochemical and clinical phenotype that is generally more aggressive than typical parathyroid adenomas (PA). Low incidence as an etiology of primary hyperparathyroidism (PHPT) presents a challenge in understanding the pathological features and natural history of APA. We present a case of PHPT due to an APA and review the published literature for these tumors.

Case

A 37 year-old male was referred for evaluation of hypercalcemia, with serum calcium level 13.6 mg/dL (8.6-10.3). Repeat serum calcium measurement was 12.7 mg/dL, and two measurements of intact PTH were 870 pg/mL and 919 pg/mL (12-88), respectively. The patient's laboratories raised concern for parathyroid carcinoma (PC), but there was no palpable neck mass and no enlarged parathyroid glands were visualized on ultrasonography. Parathyroid scintigraphy was notable for faint but persistent Tc-99 m sestamibi uptake in the left inferior neck. Additional preoperative evaluation revealed significantly reduced bone mineral density in the distal third of the radius (0.638 g/cm2, Z-score -3.2), silent nephrolithiasis of the right kidney, and vitamin D deficiency (25-OH vitamin D 13.4 ng/dL, 30-100). An unequivocally enlarged (175 mg, 2.5 cm in largest diameter) left inferior parathyroid gland was removed, with the remaining glands unremarkable by inspection. Extensive nuclear atypia and cellular pleomorphism indicated an APA, and invasive features of PC were absent. One month after surgery, serum calcium improved to 10.2 mg/dL and intact PTH was 40 pg/mL.

Conclusions

APA account for 1-2% of PHPT cases. This patient's case has several features that distinguish it from a PA including degrees of preoperative hypercalcemia and intact PTH elevation, low vitamin D level, significantly reduced bone density in the distal third of the radius, nephrolithiasis, relatively young age, and male gender. Fibrous bands, pseudocapsular invasion, and trabecular growth pattern are the most common histologic features of APA, but nuclear atypia and cellular pleomorphism are well established diagnostic criteria. APA may be biochemically similar to PC but are distinguished from PC by the absence of gross invasion into adjacent anatomic structures, distant metastases, and vascular or perineural invasion. Additionally, CDC73 mutations are present in nearly all cases of PC but not in APA. Over 90% of patients with APA are successfully treated by parathyroidectomy. Careful follow up of APA patients is recommended, though there are no specific guidelines regarding a minimum satisfactory duration of postsurgical monitoring.

Presentation: Saturday, June 11, 2022 1:00 p.m. - 3:00 p.m.
PSAT211 Low Grade Parathyroid Carcinoma: A Challenging Diagnosis in the Evaluation of Primary Hyperparathyroidism
Authors: Samuel Dennis , Augustine Marilyn
Published: November 2022

Background

Parathyroid carcinoma often presents with severe symptomatic hypercalcemia, bone and kidney involvement, and PTH > 4x the upper limit of normal. Diagnosis is challenging and requires classic pathologic findings.

Case Presentation

A 34-year-old woman presented with hypercalcemia. She was found to have primary hyperparathyroidism with elevated total calcium (11.8 mg/dL), elevated PTH (352.8 pg/mL), and elevated 24-hour urine calcium (758 mg/24hr). A 99mTc sestamibi scan showed focal uptake in the right inferior thyroid pole. Intraoperatively, there was a lobulated, fibrotic right parathyroid mass sized 3.5×2.5×2.0 cm. Pathology showed low-grade parathyroid carcinoma with lymphovascular invasion, extension into soft tissue, and focal positivity in resection margin. Post-operative PTH was 19.5 pg/mL. One month later, PTH was elevated to 82.0 pg/mL with calcium of 9.1 mg/dL. PET scan did not show metastases. The patient then underwent a right thyroid lobectomy with central compartment lymph node dissection. Pathology showed residual parathyroid carcinoma within the perithyroidal scar tissue but was negative for lymph node involvement. Postoperatively, her PTH was 52.5 pg/mL. Genetic studies showed no mutations in CDC73, MEN1, RET, RB1, and TP53 genes. She underwent external beam radiation treatment. Following radiation, her total calcium and PTH level remained in the normal range with no recurrence on thyroid ultrasound.

Clinical Lessons

On ultrasound, parathyroid carcinomas are large, have increased heterogeneity and lobulations, as well as suspicious lymph nodes. Intraoperative suspicion is based on large size, capsular or local tissue invasion, and lymph node metastases. Histologic assessment can be challenging as findings of parenchymal mitoses, trabeculated parenchyma, and thick fibrous bands are also seen with parathyroid adenomas. Local tissue invasion (angiolymphatic, perineural or adjacent structures) or metastases such as lymph nodes seen on pathology are diagnostic of parathyroid carcinoma. PET can be used post-operatively to identify recurrence or metastases. Genetic studies especially for mutations in CDC73 can be helpful in diagnosis as it is the most common cause of syndromic and sporadic parathyroid carcinoma.Resection of the tumor and adjacent tissues is the mainstay of treatment. A regional lymph node dissection should be done if there are suspicious lymph nodes. Neither thyroidectomy, chemotherapy nor radiation has been shown to improve overall survival. Radiation has shown to have some benefit for local recurrence and disease-free survival. Lifelong monitoring of calcium and PTH levels is required, and if elevated, should prompt imaging with thyroid ultrasound and PET scan. Prognosis is generally poor but does improve if there is complete surgical resection on initial diagnosis. Almost all patients experience recurrence within 2-23 years after resection

Presentation: Saturday, June 11, 2022 1:00 p.m. - 3:00 p.m.
PSAT213 Intrathyroidal Parathyroid Adenoma Diagnosed on Thyroseq v2
Authors: Tsai Karen , Gofnung Yaroslav , Livhits Masha
Published: November 2022

Background

The incidence of intrathyroidal parathyroid adenoma varies from <1% to 6% and can be a diagnostic dilemma. Intrathyroidal parathyroid adenomas can have suspicious sonographic features that prompt fine needle aspiration (FNA) to evaluate for thyroid cancer. Differentiation between thyroid and parathyroid tissue on cytology can be difficult, and these lesions may be diagnosed as indeterminate thyroid nodules. Molecular testing is a useful adjunct that allows for identification of parathyroid adenomas in this setting.

Clinical Case

A 59-year-old female with osteopenia and a recent history of traumatic vertebral fracture presented for workup of asymptomatic hypercalcemia. Labs showed intact parathyroid hormone (iPTH) 168 pg/mL (reference 11-51 pg/mL), serum total calcium 12.2 mg/dL (reference range 8.6-10.4 mg/dL), albumin 4.7 g/dL (reference 4.1-5.3 g/dL), phosphorus 2.1 mg/dL (reference 2.3-4.4 mg/dL), creatinine 0.7 (reference 0.6-1.3 mg/dL), and 25-OH vitamin of 28 ng/mL (reference 20-50 ng/mL). Cervical ultrasound showed a 2.1 cm hypoechoic left thyroid nodule. Subsequent 99mTc-Sesatmibi scan showed increased tracer retention in the left posterior thyroid lobe. FNA of the left thyroid nodule was performed with cytology showing follicular lesion of undetermined significance (FLUS). Molecular testing with Thyroseq v2 showed parathyroid tissue consistent with intrathyroidal parathyroid adenoma. The patient underwent successful left thyroid lobectomy with removal of an intrathyroidal parathyroid gland, with subsequent decrease of iPTH to 44 pg/mL (reference 11-51 pg/mL) and total serum calcium to 9.5 mg/dL (reference 8.6-10.4 mg/dL). Surgical pathology confirmed parathyroid adenoma.

Discussion

Due to the ubiquity of thyroid FNAs to rule out malignancy, there has been a rise in the number of incidental parathyroid gland aspirations. Thyroid lesions with diagnosis of FLUS or oncocytic features are prone to misdiagnosis due to similarities in morphologic overlap and anatomic proximity. Molecular testing such as Thyroseq v2 routinely tests for PTH and can identify parathyroid tissue in lesions initially diagnosed as indeterminate thyroid nodules. Newer molecular test versions including ThyroSeq v3 similarly have high analytical accuracy in detecting thyroid cancer and parathyroid lesions.

Presentation: Saturday, June 11, 2022 1:00 p.m. - 3:00 p.m.
PSAT214 Management of Hyperparathyroidism Associated with Severe Hypercalcemia Presenting During Labour
Authors: Mendez Juan Vasquez , Goulden Peter , Nassar Rawann
Published: November 2022

Background

Hypercalcemia is a rare pathology in pregnancy, and primary hyperparathyroidism (PHPT) has been described as the most common cause. No guidelines exist concerning treatment of PHPT during pregnancy, although most authors favor surgery as the treatment of choice during the second trimester. Nonetheless, management during the third trimester of pregnancy is challenging due to lack of current guidelines.

Clinical case

This 29-year pregnant female presenting at 38-weeks gestation with spontaneous rupture of membranes and admitted for latent labor. She was incidentally found to have hypercalcemia. Endocrinology was consulted for asymptomatic hypercalcemia in the third trimester of pregnancy. A diagnosis of primary hyperparathyroidism (PHPT) was suspected based on elevated serum calcium adjusted for albumin (16 mg/dL, normal range 8.5-10.5 mg/dL) and elevated PTH levels (121 pg/mL, normal range 14-65 pg/mL). In addition, parathyroid hormone related peptide (PTHrP) was less than 2.0 pmol/L (normal range <2.0 pmol/L), 25-hydroxy vitamin D was 35.6 ng/mL (normal range 30-50 ng/mL) and urine calcium/creatinine clearance ratio (CCCR) level was 0.02 (<0.01 familial hypocalciuric hypercalcemia is likely, >0.02 PHPT is likely) further supporting the diagnosis of PHPT. No parathyroid imaging was performed as there was no plan for surgical intervention at that time. Conservative management was initiated with aggressive oral and intravenous fluid rehydration. The patient subsequently had an uneventful vaginal delivery with the arrival of a healthy newborn eight hours after treatment was initiated. With continued IV and oral hydration, corrected calcium fell by a total of 5 mg/dL. Given an uneventful postpartum course as well as improving calcium levels with hydration, the patient was discharged on day three of hospitalization with a plan for outpatient endocrinology follow up in preparation for future parathyroidectomy.

Conclusion

There is no previous case report describing severe hypercalcemia in the third trimester of pregnancy managed conservatively solely with hydration. Calcitonin has been attempted but use is limited secondary to tachyphylaxis. Additionally, some case reports suggest cinacalcet use but this drug crosses the placenta. In this unique and complicated case of severe hypercalcemia diagnosed in the third trimester of pregnancy, conservative management with intensive oral and intravenous fluid rehydration was safe and effective in lowering serum calcium levels and therefore conducive to a positive pregnancy outcome.

Presentation: Saturday, June 11, 2022 1:00 p.m. - 3:00 p.m.
PSAT217 Estrogen Deficiency as a Cause of Decreased 1- alpha - hydroxylase Activity
Authors: Sviderskaya Tatiana
Published: November 2022

Case description

A 40 year old woman receiving cholecalciferol therapy -10,000 IU, and alfacalcidol 1 mcg per day showed a 25 (OH) D increase to 351. 1 ng/mL (normal 65-100) with a normally high parathormone level of 33.5 pg/mL (normal 15-65). Clinically, symptoms of vitamin D deficiency - decreased immunity, decreased muscle mass and strength, depression, and symptoms of estrogen deficiency (hot flashes, scanty menstruation, hair loss) persisted against a high 25(OH)D background, so estrogen determination was performed in the steroid profile of saliva. Estradiol content was decreased - 3.45 pg/ml (norm 4.17 - 9.28), in connection with which transdermal estrogen therapy in a dose of 3.0 g was prescribed. Against the background of estrogen therapy, parathormone decreased from 33.5 to 22.4 pg/ml.

Determination of 25(OH)D and estradiol in saliva was performed by mass spectrometry, determination of parathormone by ELISA.

Discussion

Vitamin D status depends on several factors, in particular on the activity of the enzyme 1 - alpha-hydroxylase (CYP27B1) in the kidney, which converts 25 (OH) D into the active form (1,25 - (OH)2 - D), which in turn depends on both parathormone and sex steroids (estrogen and androgens), determination of which is not a routine practice in vitamin D deficient patients. Elevated parathormone levels are considered a marker of vitamin D deficiency (secondary hyperparathyroidism). Decreased parathormone levels are considered a laboratory manifestation of vitamin D overdose.

In this patient, there was no decrease in parathormone below the differential level of 25(OH)D in the background of high levels.

Sex steroids increase the synthesis of calcitriol (D hormone, dihydrocholecalciferol 1,25 - (OH)2 - D) by activating the enzyme 1 - alpha - hydroxylase (CYP27B1) in the kidneys. In particular, estradiol deficiency exacerbates vitamin D deficiency.

Conclusion

Determination of 25(OH)D levels in patients with decreased 1 -alpha-hydroxylase activity leads to hypodiagnosis of vitamin D deficiency. In all patients with high 25(OH)D levels, the determination of parathormone as well as estrogens in saliva is necessary.

Presentation: Saturday, June 11, 2022 1:00 p.m. - 3:00 p.m.
PSAT220 Severe Vitamin D Deficiency and Hypocalcemia during Pregnancy Masquerading as Thyroid Storm
Authors: Pansare Rahul , Khurram Daniyeh , Rawal Malika
Published: November 2022

Background

Hypocalcemic tetany in young female patients is a clinical entity that is well-described in literature. Here we present a potentially life-threatening case of hypocalcemia secondary to severe Vitamin D deficiency and hyperemesis gravidarum mimicking thyroid storm.

Case Presentation

A 22-year-old Caucasian woman at 21 weeks gestation was transferred to our hospital for suspected thyroid storm with TSH <0.01 mIU/L (0.05-5.7). She had no history of nor risk factors for thyroid disease and presented with severe agitation, hallucinations, and muscle spasms after weeks of vomiting and poor oral intake. In the ambulance her temperature was 106.6F (rectal) and she was tachycardic (216/minute). EKG revealed ventricular arrhythmia with QTc 532 ms. EMS interventions included unsuccessful cardioversion with 100J and 300mg IV amiodarone bolus. In the ED, serum calcium level was 5.9 mmol/L (8.4-10.2), albumin 2.8 g/dL (3.3-4.5), magnesium 1.0 mmol/L (1.7-2.3), potassium 3.1 mmol/L (3.5-4.8), lactic acid 9.5 mmol/L (0.5-2.2), Free T4 1.36 ng/dL (0.58-1.65), troponin 2.21 ng/ml (0.00-0.03), β-hcg 48,775 mIU/ml, CK 9960 U/L (0-188), AST 171 U/L (8-34), ALT 45 (0-24). She received IV calcium gluconate, aggressive IV hydration and electrolyte repletion. Free T3 was drawn prior to initiating empiric thyroid storm treatment (hydrocortisone, propylthiouracil) returned at 3.8 pmol/L (2.5-3.9). Thyroid storm was further ruled out with negative antibodies for TPO and TSI and ultrasound revealing normal-sized gland without nodules and with normal vascularity. Hydrocortisone and Thionamide therapy were discontinued. The patient had rapid improvement in mentation and vitals with continued hydration and electrolyte repletion. 25-hydroxy-Vitamin D level was undetectable and PTH 118 pg/mL (12-88), consistent with secondary hyperparathyroidism. Celiac disease was ruled out with negative tissue transglutaminase IgA and IgG. At her follow-up clinic visit, symptoms had resolved with calcium and Vitamin D supplementation.

Discussion

Though a common phenomenon in pregnant women, metabolic derangements due to hyperemesis gravidarum can be quite severe and/or life-threatening, as in our case. Literature search revealed an isolated case of hyperemesis gravidarum presenting with severe electrolyte derangement and subsequent paraparesis which resolved after vitamin D and calcium supplementation. Hyperthyroidism is typically associated with hypercalcemia in the Western population. This patient's presenting features of hyperpyrexia, malignant cardiac arrhythmia, hepatitis, and altered mentation were reminiscent of thyroid storm and could easily be attributed to such in a pregnant patient with suppressed TSH. This could lead to continued use of thionamide and further hepatic damage. Thus, it is prudent to consider hypocalcemia in the differential diagnosis of thyrotoxicosis-like presentation, particularly in pregnant patients.

Presentation: Saturday, June 11, 2022 1:00 p.m. - 3:00 p.m.
PSAT226 Management of a Patient with Primary Hyperparathyroidism by Discontinuation of Hydrochlorothiazide: Preventing the Need for Surgical Management
Authors: Romao Isabela J , Shanik Michael Howard , Velayati Sara
Published: November 2022

Introduction

Recurrent or persistent primary hyperparathyroidism has been reported in 2-5% of patients after the initial operation. Reoperations have been associated with significant complications. The aim of this presentation is to highlight the importance of medical management prior to proceeding to surgery.

Case presentation

A 72-year-old man with a past medical history of coronary artery disease and asthma was found to have hypercalcemia and osteoporosis and was diagnosed with primary hyperparathyroidism in 2009. He had no family history of hypercalcemia. Three parathyroid glands were removed in 2010 and his parathyroid hormone normalized immediately after the surgery. About 10 years after the surgery, he developed hypertension and calcium-type kidney stones. He was treated with losartan 50 mg daily and hydrochlorothiazide 12.5 mg daily. One year later his calcium level was 11.1 mg/dL, parathyroid hormone (PTH) 70 pg/mL, 25-OH vitamin D level 44 ng/mL and creatinine was 0.8 mg/dL. A CT scan demonstrated a lesion measuring 1.3×1.1×1.6 cm which was suspicious for an ectopic parathyroid adenoma in the left ascending aorta. He was scheduled for surgical exploration and removal of the parathyroid adenoma for recurrence of primary hyperparathyroidism. Prior to the surgery, the patient was evaluated in our office for a second opinion. Physical exam and review of systems were unremarkable. Thyroid ultrasound showed a heterogeneous thyroid with no thyroid nodules or parathyroid adenoma. Adequate hydration was recommended and since his blood pressure was well-controlled, hydrochlorothiazide was discontinued. Surgery was canceled to confirm that the hypercalcemia was due to hydrochlorothiazide rather than hyperparathyroidism. After 4 months of follow-up, his blood pressure remained controlled on monotherapy with Losartan, and the repeat calcium level was 9.6 mg/dL with a PTH level of 44 pg/mL.

Conclusion

Post-surgical patients with a history of primary hyperparathyroidism, when presenting with hypercalcemia can get misdiagnosed as recurrent or persistent primary hyperparathyroidism; therefore, other causes of hypercalcemia including medications that may affect the calcium level and its metabolism should be considered and excluded prior to surgical management.

Presentation: Saturday, June 11, 2022 1:00 p.m. - 3:00 p.m.
PSUN76 Massive Four-Gland Parathyroid Hyperplasia: The Case of the Missing Glands
Authors: Nicolich-Henkin Sophie , Goldstein Michael , Rothberger Gary
Published: November 2022

Introduction

Parathyroid adenoma (PA) and parathyroid hyperplasia (PH) are common causes of primary hyperparathyroidism (PHPT) for which the only definitive treatment is surgical removal. Surgery is often preceded by imaging for localization, including by ultrasound (US), Sestamibi scan (MIBI), positron emission tomography/computer tomography (PET/CT), and four-dimensional computed tomography (4D-CT). While it is common for parathyroid pathology to not be visualized on imaging, non-visualization is more typical of adenomas and hyperplasia of smaller size.

Clinical Case

A 65-year-old male without history of kidney dysfunction or family history of parathyroid disease was referred to surgery for parathyroidectomy to manage longstanding PHPT. Serology showed a parathyroid hormone (PTH) level of 581 pg/mL (reference range: 12-65 pg/mL) and calcium of 11.8 mg/dL (reference range: 8.6-10.5 mg/dL). Preoperative parathyroid localization US revealed a large well-defined 1.5 cm PA. The patient underwent parathyroidectomy, which detected a large right inferior parathyroid gland, confirmed with pathology to be an atypical parathyroid adenoma weighing 1800 mg. Postoperative PTH level was 550 pg/mL and calcium was 12.6 mg/dL. MIBI did not display any definite parathyroid adenoma or ectopic parathyroid tissue. Further evaluation with PET/CT did not demonstrate any evidence of metabolically active residual or ectopic parathyroid adenoma or metastatic disease, and repeat US showed did not reveal evidence of any abnormal parathyroid tissue. Ultimately, 4D-CT detected a multiglandular parathyroid with a 1.8×1.4×3.0 cm right superior adenoma weighing approximately 3931 mg, 1.2×0.8×2.1cm left superior adenoma weighing approximately 1048 mg, and a 0.3×0.4×0.4cm left superior adenoma weighing approximately 25 mg. The patient underwent re-exploration parathyroidectomy with removal of the right superior adenoma weighing 3105 mg and left superior adenoma weighing 1100 mg. The remaining left inferior gland was biopsied and the majority of it was implanted into the arm. Repeat serology one week post-operatively showed improvement of PTH level to 5 pg/mL and of calcium to 8.9 mg/dL and serology one year post-operatively showed a PTH level of 82 pg/mL and a calcium of 9.4 mg/dL.

Conclusion

We present a patient with massive four-gland PH who initially presented with findings more typical of PA, but ultimately had additional hyperplasic glands that were identified after removal of the adenomatous gland. These glands were unusually large to be seen in PH and yet still be undetected on multiple imaging modalities; no previously reported non-ectopic hyperplastic glands of this size have been documented that were not detected on US or MIBI.

Presentation: Sunday, June 12, 2022 12:30 p.m. - 2:30 p.m.
RF18 | PSAT146 Bone Quality in Lean Adults with Metabolic Syndrome
Authors: Ferri-Guerra Juliana , Badour Sanaa , Garg Rajesh , Valderrãbano Rodrigo J
Published: November 2022

Purpose

Metabolic syndrome (MetS) comprises a constellation of risk factors for cardiovascular disease, which are thought to be derived from truncal obesity. Adipose tissue can have positive effects on bone density through mechanical stimulation on weight bearing sites and can have hormonal influences which affect bone cells, however in obesity this relationship is inversed as the deleterious effects of excess fat mass predominate. It is unclear how MetS and the regional distribution of fat relate with bone density and bone quality in lean individuals who do not benefit from increased weight bearing.

Methods

We performed a cross sectional analysis of adults who underwent bone density and body composition by dual energy x-ray absorptiometry (DXA) at a university health system bone clinic, and had laboratory and demographic data available in the electronic medical record. We included adults with BMI below 24.9 kg/m2 in the analysis. Individuals were classified as being metabolically unhealthy lean (MUL) when they fulfilled at least 2 of the following criteria: blood pressure > 130/85, triglyceride >150 mg/dL, HDL < 50 mg/dL for women and < 40 mg/dL for men, fasting plasma glucose >100mg/dL (or HbA1c >=5.7), and metabolically healthy lean (MHL) when they did not fit the criteria. Linear regression was used to evaluate the association of body composition fat parameters with trabecular bone score (TBS), and bone mineral density (BMD) at the total hip (TH).

Results

Among the 119 (100%) lean adults, 50 (42%) were classified as being MUL. Mean age was 62 ±14 years old and mean BMI was 22 ±1.9kg/m2. The population was mostly white 105 (88%) and 70 (41%) were Hispanics. Additionally, 43 subjects (40%) had a history of a previous fracture. Total body fat was similar between the two groups (mean,%) MHL 33.5, MUL 34.1 (p=0.32), as were age (mean, years) MHL 62.3 vs MUL 62.5 (p=0.48), BMI (mean, kg/m2) MHL 22.2, MUH 22.2 (p=0.49), TH BMD (mean, g/cm2) MHL 0.74, MUL 0.72 (p=0.140) and TBS (mean, unitless) MHL 1.34, MUL 1.33 (p=0.308). However, visceral adipose tissue area (VAT) (mean, cm2) was statistically significantly different between the groups (MHL 69.0, MUL 86.7, p=0.004). In linear regression analyses total body fat had negative association with TBS (B=-0.44, p<0.001) and TH BMD (B= -0.37, p<0.001) while VAT had negative association with TBS (B=-0.26, p=0.02) but not TH BMD (B=-0.17, p=0.08).

Conclusion

In our sample of older lean individuals body fat distribution varied by classification of metabolic health. Total body fat amount was associated with decreasing bone density and quality, while higher truncal fat as measured by VAT area was associated with decreasing bone quality. Our findings suggest that excess body fat may have deleterious effects on bone health even in lean individuals

Presentation: Saturday, June 11, 2022 1:00 p.m. - 3:00 p.m., Sunday, June 12, 2022 1:06 p.m. - 1:11 p.m.
RF30 | PSAT148 Bone Mass and Body Composition Analysis in Transgender Men: A 1 Year Follow Up
Authors: Orozco Bruno , de Oliveira Otavio Lima , Haddad João Victor Magliari , de Macedo Luciana Pereira , Nurse Graduate , de Amorim Alessandra Toledo , Nurse Graduate , Alvares Leonardo Azevedo Mobilia , dos Santos Livia Marcela
Published: November 2022

Introduction

Sex steroid hormones play a key role in bone health, however medical therapies for gender dysphoria lead to hormonal changes.

Purpose

Understanding the changes in bone mass and body composition is extremely important, because this treatment will be carried out over a long period of time.

Methods

In a prospective study, we included 19 transgender men (female-to-male transgender persons) before treatment and after 1 year of treatment with undecanoate (1000 mg i.m./12 weeks). Bone densitometry model Hologic-Discovery performed at baseline and after 6, 12 months of therapy. All participants signed the TCLE, project approved by CEP-CAAE: 36823220.6.0000.0062.

Results

Analysis of 19 transgender men with a mean age of 24 years +/- 10 years. LS-BMD (lumbar spine) at initial time (0m) 1,075±0,238 g/cm2 and after 6 months (6m) 1,044±0,117 g/cm2 and 12 months (12m) after 1,052±0.122 g/cm2, p=0.21; FN-BMD (Femur Neck) 0m= 0.904±0.121 g/cm2; 6m= 0.918±0.108 g/cm2 and 12m= 0.905±0.107 g/cm2; p=0.90. TH-BMD (Total Hip) 0m=1.017±0.139 g/cm2; and 6m= 1.023±0.134 g/cm2; 12m= 1.032±0.136g/cm2; p=0.05. About body composition: the percentage of body fat: 0m=38.8±6.7%, 6m=34.5±7.1%; 12m=34.9±9.0; p=0.09; android/gynecoid ratio: 0.93±0.16, 6m=0.94±0.17; 12m=0.94±0.18 p=0.06, VAT mass (cm3) 431.8±262.1, 6m= 401.8±298.6, 12m= 455.5±322.7 and Lean/Height2 (kg/m2) 0m= 15.52±3.24 6m= 16.15±2.19 kg/ m2; 12m= 15.86±2.22 kg/m2; p<0.01 and Appen. Lean/Height2 (kg/m2) 6.92±1.74, 6m= 7.32±1.22 and 12m= 7.31±1.07; p<0.01

Conclusion

In 1 year of hormone therapy with testosterone, we did not observe significant differences in bone mass, but in body composition there was a gain in appendicular lean mass.

Presentation: Saturday, June 11, 2022 1:00 p.m. - 3:00 p.m., Monday, June 13, 2022 1:00 p.m. - 1:05 p.m.