Endocrinology, Diabetes, and Metabolism Commons^™

Familial Hypocalciuric Hypercalcemia Across Three Generations: Exploring Coexistent Primary Hyperparathyroidism, Liada Itzel Guerrero Arroyo Md, Anda Raluca Gonciuela Md, Sachin Majumdar Md

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FHH due to CASR R220W variant may present with phenotypic variability, including features classically associated with PHPT. Genetic testing is essential in ambiguous cases to avoid unnecessary surgical interventions.

Glp1 Ra Reverses The Harmful Association Of Body Weight Variability With Cvd Outcomes Across Different Metabolic Profiles, Sarpong Boateng, Yussif Issaka Md, Basile Njei

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This study aimed to investigate the impact of GLP1 RA on this known negative relationship between BMI variability and cardiovascular (CVD) outcomes across different metabolic profiles.

Untreated Subclinical Hypothyroidism Is Associated With Higher Mortality And Hepatic Decompensation In Patients With Masld/Mash: A Multinational Analysis, Do Han Kim Md, Donghyun Ko Md, Jose A. Porres, Wilhelm S. Basegoda Md, Cristina H. Makarian, Luis M. Nieto Md, Pedro Palacios Argueta Md, Paul T. Kroner Md, Frank J. Lukens Md

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This study aims to explore whether subclinical hypothyroidism contributes to the progression of MASLD/MASH, reflected as an increased risk of liver-related outcomes.

A Curious Case Of Heart Failure With Reduced Ejection Fraction In A Lupus Patient, Farah Khan Md

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Systemic Lupus Erythematosus (SLE) is an autoimmune disease with cardiovascular risks, including coronary artery disease (CAD) and typically heart failure (HF) with preserved ejection (HFpEF). We report an SLE patient with ventricular arrhythmias and HF with reduced ejection fraction (HFrEF) due to myocarditis, responding positively to Guideline-Directed Medical Therapy (GDMT) for both conditions

Bisphosphonate Treatment In Pediatric Patients With Rare Ovarian Malignancy And Hypercalcemia: A Case Series, Seth Lamb, Samhita Bhattarai, Jennifer Boyd

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Objective: To describe the presentation, management, and outcomes of severe hypercalcemia in two adolescent females secondary to ovarian malignancy. Methods: The case series includes two adolescent female patients, aged 11 and 16, diagnosed with rare ovarian malignancies and associated hypercalcemia. The 11-year-old female was diagnosed with small cell carcinoma of ovary while the 16-year-old was diagnosed with dysgerminoma. Both patients presented with abdominal pain, nausea and constipation. The 11-year-old received zoledronic acid while the 16-year-old received pamidronate. Serum calcium level, symptoms and adverse effects were monitored before and after both medications. Results: Both patients presented with severe hypercalcemia. The 11-year …

Physician Use Of Progesterone In Transgender Adolescents: A Survey, Samhita Bhattarai, Michelle Knoll

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Objectives To evaluate the current perspective and clinical practices of physicians regarding the use of synthetic progestins as an adjunct to estrogen therapy in transfeminine adolescents. The survey focuses on perceived benefits, risks and overall efficacy in gender affirming hormone therapy. Methods A cross sectional survey was conducted among physicians who care for transfeminine patients. The survey included questions regarding their specialty, practice setting, age range of patients. Data was also collected regarding their indication for use, perceived benefits (e.g. breast development) and rationale if not using progestins for this purpose. Results Of 110 physicians who participated in the survey, …

Prevention Of Transmetatarsal Amputation In A Diabetic Patient With A Chronic Foot Ulcer Including Osteomyelitis By Minimally Invasive Surgery Floating Lesser Metatarsal Osteotomies In Conjunction With Adipose Injectable Filler, Francois M. Lokenye Dpm, Orlexia Thomas Dpm, Lady Paula Dejesus Dpm, Facfas, Facpm, Dwsp

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Problem: Diabetic foot ulcers (DFUs) complicated by osteomyelitis often result in transmetatarsal amputations, leading to significant morbidity.

Objective: To evaluate a minimally invasive surgical approach combining floating lesser metatarsal osteotomies with adipose injectable filler to prevent transmetatarsal amputation, enhance wound resolution, and improve foot biomechanics

Cardiac Arrest Associated With Thyrotoxicosis: A Systematic Review, Ashraf Ahmed, Mohamed A. Badheeb, Shaun Abid Md, Douglas Webber, Samdish Sethi, Mayowa Adefuye, Deepak R. Vangipuram, Anda Gonciulea Md, Stuart Zarich, Gregory K. Buller

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Thyrotoxicosis is a systemic condition caused by the effects of elevated levels of thyroid hormones. The cardiovascular manifestations of thyrotoxicosis range from sinus tachycardia and atrial fibrillation to heart failure. The incidence of malignant arrhythmias and cardiac arrest associated with thyrotoxicosis is not well known, and much of the current literature regarding this is limited to case reports. This study conducts a systematic review of the literature to identify patient demographics and outcomes where thyrotoxicosis manifests as cardiac arrest.

Rhabdomyolysis As A Cause Of Pth Independent Hypocalcemia In A Child With Acute Influenza Infection, Samhita Bhattarai, Kelsee Halpin

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INTRODUCTION Hypocalcemia is characterized by abnormally low level of calcium in the blood. Normal reference range for calcium for children between 12- 19-year-old is 8.5-10.6 mg/dl . Severe hypocalcemia is considered as serum calcium level of <7 mg/dl and can present with tetany, seizures, and life-threatening cardiac arrhythmias. Etiology of hypocalcemia varies but hypoparathyroidism, pseudohypoparathyroidism and Vitamin D deficiency are some of the most common causes encountered by pediatrician endocrinologists. Association of rhabdomyolysis with hypocalcemia and elevated PTH is a rare presentation that should be considered, particularly for those children presenting with acute viral illness. We present a rare case of rhabdomyolysis associated with hypocalcemia not related to hypoparathyroidism. CASE A 12-year-old female presented to the emergency department with body ache, decreased oral intake and vomiting. She was found to be influenza positive. Electrolytes showed hypocalcemia (4.8 mg/dl). She subsequently had an undetectable 25-OH vitamin D level (<5 ng/ml) and elevated iPTH level (609 pg/ml). We discussed the possibility of her etiology of hypocalcemia to be Vitamin D deficiency although her presentation was atypical at an older age with a negative imaging for rickets, hyperphosphatemia (6.0 mg/dl), and normal alkaline phosphatase (334 unit/L). She also did not have any phenotypic features of Albright’s hereditary osteodystrophy and renal function was within normal limits. She was identified to have elevated creatinine kinase (4829 U/L) supporting rhabdomyolysis secondary to acute influenza as a cause of her hypocalcemia. Rhabdomyolysis, a known complication of influenza infection, causes cell membrane destruction which impairs the normal function of Na-K-ATPase channel. This leads to increase in intracellular sodium activating Na/Ca exchanger which in turn causes influx of calcium intracellularly causing hypocalcemia. Additionally, any injury or infection leads to high phosphorus release from cells due to cell lysis. High phosphorus is also caused by reduced oxidative metabolism in muscles impairing phosphate use. This excess of phosphate then combines with calcium and causes calcium-phosphate complex in soft tissues. Hyperphosphatemia also additionally inhibits 1 alpha hydroxylase limiting formation of calcitriol leading to hypocalcemia. CONCLUSION Our patient had severe hypocalcemia due to influenza-related rhabdomyolysis. Rhabdomyolysis is an important consideration as a cause of hypocalcemia in children, especially with acute viral illness. Accordingly, it is also important to obtain serum electrolytes in patients presenting with rhabdomyolysis as hypocalcemia may lead to complications like seizures and cardiac arrhythmia if not appropriately recognized and treated.

Thyroid Dysfunction In Patients Receiving Immune Checkpoint Inhibitors, Emily Metzinger, Jennifer Boyd, Julia Broussard, Christopher Klockau

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Objectives: The use of immune checkpoint inhibitors (ICIs) in cancer treatment is increasing. Literature about endocrinopathies associated with ICIs in children is limited. This study investigates ICIs and thyroid dysfunction in pediatric patients at one institution.

Methods: Retrospective chart review of patients ages 1 to 19 was completed who received any of the following ICIs between January 2000 and November 2023: PD-1 inhibitors (nivolumab or pembrolizumab), PD-L1 inhibitors (durvalumab or atezolizumab), and CTLA-4 inhibitors (ipilimumab or tremelimumab). Patients were excluded if thyroid function tests (TFTs) were not available to review or if patients passed away within 30 days of ICI …

The Impact Of Health-Related Social Needs On Health Outcomes Among Youth Presenting To A Midwest Pediatric Diabetes Clinic Network, Jasmine Roghair, Emily Dewit, Katelyn Evans, Mitchell Barnes, Heather Feingold, Samantha Jacob, Courtney M. Winterer, Jeffrey D. Colvin, Mark A. Clements, Shilpi Relan, Kelsee Halpin

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Objective: Screening for health-related social needs (HRSNs) is recommended as part of routine diabetes care given the strong impact of social factors on health outcomes. Our objective was to compare diabetes-related health outcomes among youth presenting to a tertiary diabetes center based on whether they screened positive or negative for HRSNs at a routine clinic visit. Methods: Baseline data were collected from patients whose parent/guardian completed a HRSN screen as part of their child’s diabetes clinic intake from 9/1/21 to 8/30/22. The screen is a 6-item questionnaire adapted from the Accountable Health Communities HRSNs Screening Tool. Longitudinal data were analyzed …

A Puzzling Case: Complete Regression Of Pituitary Macroadenoma, Nebyat Mazeniga Md, Deepak R. Vangipuram, Sachin Majumdar

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We present a case of pituitary macroadenoma regression following childbirth and two months of cabergoline treatment.

Central Hypothyroidism Following Neonatal Graves' Presentation, Emily Metzinger, Kelsee Halpin

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Background: Neonatal Graves’ disease is a rare disorder of neonatal autoimmune hyperthyroidism secondary to the transplacental passage of thyroid-stimulating hormone receptor antibodies. Although neonatal Graves’ disease is transient, it is associated with cardiac dysfunction, intrauterine growth restriction, prematurity, craniosynostosis, and developmental delay and can be life-threatening. Additionally, infants with neonatal Graves’ disease can rarely present with primary or central hypothyroidism later in infancy or childhood. This is suspected to be due to the disruption in the hypothalamic-pituitary-thyroid axis or development of the thyroid gland. Clinical Case: Here we describe a case of neonatal Graves’ disease that has been complicated by …

Physicians' Knowledge And Attitudes Of Disordered Eating Behaviors Among Patients With Diabetes, Nayiri Khatchadourian, Lowell Schmeltz, Michael Brennan, Virginia Uhley

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Patients diagnosed with type 1 and type 2 Diabetes Mellitus (DM) are at increased risk for developing clinical disordered eating behaviors (DEBs). Although research supports this higher incidence and the impact on health outcomes, few studies have assessed physicians’ knowledge, attitudes and training to identify and treat these conditions. The American Diabetes Associations’ 2021 Standards of Care included a new section about DEB, further highlighting the importance of addressing this issue. Our goal was to assess physicians’ level of training, comfort and attitudes towards providing clinical care to patients diagnosed with DM and their experience in assessing, identifying, and treating …

Alterations In The Metabolic Comorbidities Of Youth With Overweight And Obesity During The Covid-19 Pandemic, Safa Farrukh, Erica Wee, Ashley Sherman, Yun Yan

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Background: Childhood obesity rates have continued to increase with the COVID-19 pandemic. However, data are limited on the impact of increasing obesity on associated comorbidities. Methods: We evaluated the progression of overweight- or obesity-associated comorbidities by investigating change in laboratory results pre–COVID-19 pandemic and post–COVID-19 pandemic onset in youth with overweight or obesity. Results: There was no significant BMI progression. There was progression of metabolic comorbidities. HbA1c progression and LDL progression were significantly correlated. HbA1c and LDL progression were significantly associated with older age and Hispanics respectively. Conclusion: The results indicate that despite no significant increase in BMI, youths with …

Use Of Cgm In Monitoring Neonatal Diabetes, Emily Metzinger, Kelsee Halpin

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Introduction Although continuous glucose monitoring (CGM) has increased in patients with Type 1 diabetes, its use in the neonatal population has remained limited. Neonates, particularly preterm infants, are at risk of impaired glucose control. Several studies have looked at the use of these devices in improving care for premature infants without diabetes. We describe a case of a very low birth infant with neonatal diabetes secondary to a GATA-6 mutation. Clinical Case This is a late preterm infant with IUGR, truncus arteriosus, and neonatal diabetes. Exome genetic panel showed a mutation in GATA-6. Her neonatal diabetes was challenging to control …

Hyperinsulinemic Hypoglycemia And Growth Hormone Deficiency Secondary To 20p11 Deletion, Erica Wee, Kavitha Dileepan, Sarah Tsai, Emily Paprocki

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No abstract provided.

Hemoglobin A1c Increase In Youth At Risk For Developing Type 2 Diabetes Mellitus During The Covid-19 Pandemic, Erica Wee, Ashley Sherman, Mark A. Clements, Kelsee Halpin, Yun Yan

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No abstract provided.

Impact Of Polycystic Ovary Syndrome On Cardiovascular Disease In Obese Female Youth, Collin R. Walentine, Michael R. Brennan, Kristen J. Nadeau, Melanie Cree-Green

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INTRODUCTION
17% of youth in the United States are obese and the incidence is rising. Among obese adolescents, girls with polycystic ovary syndrome (PCOS) represent a vulnerable and understudied group. PCOS is strongly associated with dyslipidemia and cardiovascular disease (CVD) in adulthood, but studies of CVD in youth are limited. We hypothesized that obese youth with PCOS would show evidence of vascular dysfunction relative to girls with obesity without PCOS.

Thyrotoxicosis Presenting With Nondiabetic Ketoacidosis In A 4 Year Old Female: A Case Report, Henry S. Jeng, Michelle Knoll, Figen Ugrasbul

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Objective: To raise awareness that thyrotoxicosis should be on the differential diagnosis for ketoacidosis in the pediatric population

Gonadotropin Releasing Hormone (Gnrh) Agonist Improves Hyperandrogenism In An Adolescent Female With A Novel Insulin Receptor Gene Mutation, Emily Paprocki, Romina Barral, Heidi Vanden Brink, Maria E. Lujan, Tania S. Burgert

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We describe a case of an adolescent female with Type A insulin resistance whose severe hirsutism and hyperandrogenism were improved with leuprolide, despite extreme hyperinsulinemia. Ovarian volume decreased in association with the resolution of hyperandrogenism, consistent with ovarian size reflecting hyperandrogenism in adolescents.

This case allowed us to examine the frequently debated bidirectional relationship between insulin and hyperandrogenism, often deemed independent of gonadotropin activity.

Quality Improvement: Implementing A Foot Exam To Improve Care For Patients With Diabetes Mellitus, Emily Paprocki, Ryan Mcdonough, Tiffany Musick, Joseph Cernich

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The American Diabetes Association guidelines recommend an annual foot exam in patients with type 1 and 2 diabetes who are ten years old or older and who have been diagnosed with diabetes at least five years. Quality improvement tools were used to improve the care provided to our patients by implementing an annual food exam.

Utility Of Point-Of-Care Beta-Hydroxybutyrate Testing For Predicting Diabetic Ketoacidosis In The Pediatric Emergency Department, Michelle Knoll, Kelsee Halpin, Ryan Mcdonough

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The objective of our investigation was to describe the diagnostic characteristics of point-of-care capillary beta-hydroxybutyrate (BOHB) testing to predict diabetic ketoacidosis among pediatric patients presenting with hyperglycemia in the pediatric emergency department.

Quality Improvement: Implementing A Foot Exam To Improve Care For Patients With Diabetes Mellitus, Emily Paprocki, Ryan Mcdonough, Tiffany Musick, Joseph Cernich

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No abstract provided.