Case Reports in Endocrinology
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Acceptance rate19%
Submission to final decision119 days
Acceptance to publication12 days
CiteScore1.700
Journal Citation Indicator0.200
Impact Factor1.1

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Case Reports in Endocrinology publishes case reports and case series related to the endocrine system and its associated diseases.

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Case Report

Subclinical Cushing’s Disease with High-Molecular-Weight Forms of Adrenocorticotropic Hormone Production

Production of the high-molecular-weight forms of adrenocorticotropic hormone (big-ACTH) has been reported in a small number of ectopic ACTH syndrome and ACTH-producing pituitary macroadenoma. However, perioperative changes in big-ACTH in patients with subclinical Cushing’s disease have not been reported. A 63-year-old woman presented 25 × 20 × 20-mm-sized macroadenoma in the pituitary gland. Her early morning plasma ACTH and cortisol levels were 111 pg/mL and 11.6 μg/dL, respectively. Cushingoid features and diurnal variation in plasma cortisol levels were not observed. The patient’s urinary free cortisol (UFC) was 59.3 μg/day. The corticotropin-releasing hormone (CRH) test showed that plasma ACTH levels were 1.5 times higher than the preload value. The overnight dexamethasone suppression test (DST) showed that the plasma cortisol level was not suppressed by 0.5 mg of dexamethasone (DEX) but was suppressed by 8 mg of DEX. Inferior pyramidal sinus sampling was consistent with Cushing’s disease. Taken together, the patient was clinically diagnosed with subclinical Cushing’s disease caused by an ACTH-producing pituitary adenoma. Endoscopic transsphenoidal adenomectomy was performed. In the postoperative CRH test, plasma ACTH levels showed six-fold increase. The postoperative DST showed cortisol suppression at 0.5 mg of DEX. The UFC levels decreased to 35.1 μg/day. Pituitary contrast-enhanced MRI revealed no residual tumor, and plasma ACTH and cortisol levels remained within normal ranges. Gel filtration of preoperative and postoperative plasma ACTH was performed, and a high molecular weight fraction of ACTH was detected, which markedly decreased postoperatively. The absence of Cushingoid features and the lack of significant cortisol hypersecretion in this case were thought to be due in part to big-ACTH, which has low bioactivity. By careful evaluation of laboratory and clinical findings, we identified it as a big-ACTH-producing adenoma. This is the first report of a case in which the big-ACTH transition was observed perioperative and is a valuable case.

Case Report

A Case in Which HLA-DR4 is Involved in the Development of Complex Immune-Related Endocrinological Adverse Events following Combination Therapy with Nivolumab and Ipilimumab

Immune checkpoint inhibitors (ICIs) have become a focal point in cancer immunotherapy, though their utilization is also linked to the occurrence of diverse immune-related adverse events (irAEs). Herein, we present details of a 42-year-old woman diagnosed with a malignant vaginal melanoma who underwent ICI therapy with the combination of nivolumab and ipilimumab. Approximately two months after initiating therapy, the patient manifested destructive thyroiditis and fulminant type 1 diabetes mellitus, thus necessitating intensive insulin therapy. Following the onset of adrenocorticotropic hormone deficiency, frequent hypoglycemic episodes prompted the initiation of replacement therapy with hydrocortisone. Human leukocyte antigen (HLA)-DNA typing revealed the presence of HLA-DRB104 : 05 and DQB104 : 01. HLA-DR4 has been suggested to be associated with the development of multiple endocrine irAEs. This is the first reported case of three endocrine irAEs occurring within a short period, in which the presence of HLA-DR4 may have contributed to the pathogenesis.

Case Report

Acromegaly, Herniation of Cerebellar Tonsils, and Arnold–Chiari 1 Malformation: The Importance of Right Definitions

We present a case of acromegaly associated with Arnold–Chiari 1 malformation and a literature review regarding this association, mainly focusing on the importance of a clear distinction between Chiari malformation and herniation of cerebellar tonsils (CTH). Indeed, in many clinical cases, this distinction has not been properly made and a better description of the radiological findings could be important for the clinical management of these patients. In fact, Arnold–Chiari 1 malformation, as a congenital disease, is not caused by acquired growth hormone (GH) excess, but the latter could worsen pre-existing CTH or even induce it ex novo. Therefore, awareness of this condition in the clinical management of acromegaly appears crucial.

Case Report

Identification 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.

Case Report

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.

Case Report

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.

Case Reports in Endocrinology
 Journal metrics
See full report
Acceptance rate19%
Submission to final decision119 days
Acceptance to publication12 days
CiteScore1.700
Journal Citation Indicator0.200
Impact Factor1.1
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