Become an Academic Editor
Case Reports in Endocrinology is currently accepting applications for new Academic Editors to join the editorial board.
Find out how to applyJournal profile
Case Reports in Endocrinology publishes case reports and case series related to the endocrine system and its associated diseases.
Editor spotlight
Case Reports in Endocrinology maintains an Editorial Board of practicing researchers from around the world, to ensure manuscripts are handled by editors who are experts in the field of study.
Abstracting and Indexing
Latest Articles
More articlesIdentification of a Novel Non-V600E BRAF Mutation in Papillary Thyroid Cancer
Papillary thyroid cancer (PTC) is a common endocrine malignancy, and its incidence is reported to be constantly increasing. BRAF mutation is detected in approximately 44% of PTCs, and the most common BRAF mutation is thymine (T) to adenine (A) missense mutation in nucleotide 1796 (T1796A, V600E). Although BRAFV600E represents 95% of all BRAF mutations, uncommon BRAF mutations have been reported in thyroid carcinomas and represent an alternative mechanism of BRAF activation with unclear clinical significance. We report a novel non-V600E mutation (c.1799_1812delinsAT, p.V600_W604delinsD), identified preoperatively with next-generation sequencing (NGS) on the material obtained with fine-needle aspiration cytology (FNAC) performed on a thyroid nodule cytologically suspicious for malignancy in a 35-year-old male patient. The presence of this new variant of BRAF mutation was subsequently confirmed in the postoperative phase by direct Sanger sequencing. In conclusion, we report a new non-V600E variant previously undetected in papillary thyroid cancer. In addition, this case report shows that the NGS technique on cytological tissue allows to detect the presence of rare mutations, thus increasing the diagnostic specificity of molecular analysis.
Right Femoral Fragility Fracture in an Adolescent with Vitamin D Deficiency from COVID-19 Pandemic-Related Confinement
Background. The COVID-19 pandemic has caused major impacts in various aspects of our life. In Malaysia, a Movement Control Order was imposed in March 2020. For almost two years, school going children and adolescents were not able to attend school physically, and their physical activity was confined within their room or house on most days. Case Description. We describe a case of a 14-year-old boy who was previously active in sports and sustained a low trauma fracture at the right neck of the femur following a prolonged period of extreme sedentary life along with poor dietary intake during the COVID-19 pandemic period. He underwent open reduction and screw fixation for the right neck femur fracture. He was thin with a low BMI (15.62 kg/m2) and a significant loss of muscle bulk in all limbs. Laboratory tests showed vitamin D deficiency (15.3 nmol/L) and the dual energy X-ray absorptiometry (DXA) showed a low Z-score for the total spine (−2.2) and total hip (−3.9). He was treated with activated vitamin D and vitamin D3 replacement. Sports physician was involved for individualized postoperative rehabilitation. Successive clinic visits showed remarkable improvements in physical fitness, sports participation, and normalization of vitamin D levels. Conclusion. A high degree of suspicion is needed to rule out secondary causes in adolescents who present with unusual fragility fractures.
Incidental Finding of Thyroid Tuberculosis by Operation for Graves’ Disease: A Rare Case Presentation
Thyroid tuberculosis is a rare form of extrapulmonary tuberculosis, even in endemic countries such as Morocco; its precise incidence is not well-defined. The clinical presentation of thyroid tuberculosis can vary, often being asymptomatic. Consequently, the diagnosis may be overlooked or delayed. Intriguingly, thyroid tuberculosis can manifest alongside thyrotoxicosis due to Graves’ disease, an exceptional association. This article reports a distinctive case of thyroid tuberculosis coexisting with Graves’ disease, one of the autoimmune thyroid diseases. A 33-year-old female presented symptoms consistent with hyperthyroidism and bilateral exophthalmos. She was subsequently diagnosed with Graves’ disease. Despite initially managed medically, recurrences of the disease led to definitive treatment by total thyroidectomy. Histopathological examination revealed concurrent presence of thyroid tuberculosis.
A Case of Type 2 Diabetes Mellitus with Lung Cancer Suffered from Euglycemic Diabetic Ketosis Accompanied by Adrenal Insufficiency after Immune Checkpoint Inhibitors
A 74-year-old patient with type 2 diabetes mellitus received basal-bolus insulin, insulin secretagogues, and sodium glucose transporter 2 (SGLT2) inhibitors. After immune checkpoint inhibitor treatment for lung cancer, he suffered from depressed consciousness with a urinary ketone body (3+). When all hypoglycemic treatments were discontinued, his serum blood glucose remained at 121 mg/dL. He was diagnosed with euglycemic diabetic ketosis. Endocrine loading tests revealed isolated adrenocorticotropic hormone (ACTH) deficiency as an immune-related adverse event. It was suggested that euglycemic diabetic ketosis was induced by the self-suspension of insulin and insulin secretagogues, adrenal insufficiency, SGLT2 inhibitors, and carbohydrate intake shortage.
Severe Hypercalcemia Caused by Calcium-Alkali Syndrome after 15 Years of Postoperative Hypoparathyroidism in a Patient with Undiagnosed Hyperaldosteronism
Introduction. The triad of hypercalcemia, metabolic alkalosis, and acute kidney injury associated with ingesting high doses of calcium and absorbable bases characterizes the calcium-alkali syndrome. Clinical Case. We report the case of a patient with postthyroidectomy hypoparathyroidism 15 years ago due to differentiated thyroid cancer who presented with severe hypercalcemia. He had adequate control of calcemia for many years on treatment with calcitriol and calcium carbonate and hypertension treated with amlodipine, losartan, and hydrochlorothiazide. After a period of loss to follow-up, he suddenly presents with severe hypercalcemia, metabolic alkalosis, and loss of renal function. Upon hydration and withdrawal of calcitriol and calcium replacements, hypercalcemia resolved. The etiological investigation identified no granulomatous or neoplastic diseases, but an aldosterone-producing adrenal incidentaloma was found. The cause of hypercalcemia in this patient was calcium-alkali syndrome due to calcium carbonate replacement potentiated by hydrochlorothiazide and primary aldosteronism. Six months after the hospitalization and suspension of calcium and vitamin D, the patient returned to hypocalcemia, reinforcing the diagnosis. Conclusion. Although seldom described, the calcium-alkali syndrome is an expected complication for individuals with postoperative hypoparathyroidism, as they require lifelong calcium and vitamin D supplementation. This case also shows the importance of hydrochlorothiazide use and primary aldosteronism as possible triggers of life-threatening hypercalcemia.
Case Presentation: Functional Assessment of a CASR Variant Identified in a Patient with Hypercalcaemia Confirms Familial Hypocalciuric Hypercalcaemia in the Patient and a Sister Previously Misdiagnosed with Primary Hyperparathyroidism
Background. Primary hyperparathyroidism (PHPT) and familial hypocalciuric hypercalcaemia (FHH) are common causes of hypercalcaemia. Patients are mostly asymptomatic in the case of FHH and often so in the case of PHPT. In addition, biochemical parameters show considerable overlap, making differential diagnosis difficult. Genetic screening for inactivating variants in the calcium-sensing receptor (CASR) gene that are causative of FHH assists with the diagnosis since such variants are not generally associated with PHPT. However, novel CASR variants must undergo functional assessment before they can be definitively assigned a causative role in FHH. Case Presentations. We describe a 73-year-old female (patient A) who presented with mild parathyroid hormone (PTH)-dependent hypercalcaemia and a history of osteoporosis. Family history revealed that her sister (patient B) had presented a decade earlier with symptoms of PHPT including a history of mild hypercalcaemia and multiple renal calculi, prompting parathyroid surgery. However, a subtotal parathyroidectomy did not resolve her hypercalcaemia long term. On this basis, genetic screening was performed on patient A. This identified a heterozygous variant in the CASR, NM_000388.4:c.T101C: p.Leu34Pro (L34P). Functional analysis showed that the L34P variant was unable to produce mature, dimerized receptor and did not respond to Ca++ ions. Adopting American College of Medical Genetics-based guidelines, the variant was classified as 'Pathogenic (II)'. Patient B was subsequently found to carry the L34P variant heterozygously, confirming a diagnosis of FHH, not PHPT. Conclusion. This study shows the importance of examining patient’s family history in providing clues to the diagnosis in isolated cases of hypercalcaemia. In this case, history of a sister’s unsuccessful parathyroidectomy prompted genetic screening in a patient who might otherwise have undergone inappropriate parathyroid surgery. Screening detected an inactivating CASR variant, firming up a diagnosis of FHH. These studies reaffirm the requirement for functionally assessing novel CASR variants prior to assigning causality to FHH.