Background: Accurate preoperative localization of hyperfunctioning parathyroid glands remains challenging, particularly in secondary hyperparathyroidism where multiglandular disease may compromise scintigraphic performance. Methods: Our study evaluated biochemical, morphometric, and histopathological predictors of 99mTc-sestamibi scintigraphy detectability in both primary and secondary hyperparathyroidism. The study group included a total of 162 patients with primary and secondary hyperparathyroidism who underwent dual-phase 99mTc-sestamibi scintigraphy followed by parathyroidectomy. Demographics, biochemical parameters, histopathological features, lesion volume and scintigraphic findings were assessed at patient and lesion level. Results: In primary hyperparathyroidism, adenomas were larger and more frequently detected than hyperplastic glands. Lesion volume and solid growth pattern were found as positive predictors of sestamibi uptake. In secondary hyperparathyroidism, nodular hyperplasia was associated with larger volume, higher cellularity, and more frequent localizing studies. Upper quadrant position and diffusely hyperplastic lesions were associated with higher lesion miss rates, while lesion volume increased the likelihood of detection. Conclusions: Our findings highlight that 99mTc-sestamibi scintigraphy performance is strongly influenced by lesion volume, histopathological architecture and anatomical position, underscoring the needs for cautious interpretation of negative or incomplete scans, especially in secondary hyperparathyroidism.

Background: Subacute thyroiditis (SAT) is a self-limited inflammatory thyroid disease that follows or co-exists with a viral infection. COVID-19 has numerous multisystemic effects, including thyroid disorders. Possible mechanisms involved in COVID-19 infection-associated thyroid dysfunction include: apoptosis, inflammatory reaction and damage to follicular cells, direct effect of the virus, or interaction with thyroid angiotensin converting enzyme 2 (ACE2) receptors, respectively. Methodology and Results: In the period November 2021-February 2022, 12 patients with SAT associated with COVID-19 were evaluated in our department (11 women, one man); mean age 50 ± 13.1 years. The mean time between COVID-19 infection and the onset of subacute thyroiditis was 23 ± 10.2 days. The most common symptoms presented by affected patients were: fever, pain in the thyroid, and complaints associated with thyrotoxicosis. All patients presented severe inflammatory syndrome, but the clinical and biochemical picture of thyrotoxicosis was more severe compared to other viral subacute thyroiditis. In 60% of cases, 2D ultrasonography was suggestive for subacute thyroiditis, but the parameters of Share-Wave Elastography (SWE) confirmed the diagnosis in 100% of cases (mean thyroid stiffness 234.2 ± 34.5 kPa). Under steroid therapy, during follow-up, thyroid stiffness gradually decreased at 4 weeks (130.38 ± 15.4 kPa), respectively, at 8 weeks (64.7 ± 5.3 kPa). The clinical outcome was favorable in all cases. Two patients developed hypothyroidism and were treated accordingly. SAT is characterized by a significantly increased stiffness of the thyroid. Discussion: The results of this study documented a significant difference in thyroid tissue stiffness between. SAT at baseline and values recorded at the follow-up visit. It should be noted that changes in the elastic properties of the thyroid parenchyma were associated with gradual normalization of biochemical parameters. The early diagnosis of SAT associated with COVID-19 is crucial, as prompt treatment with glucocorticoids leads to complete resolution of the disease. Conclusion: SWE sonoelastography is useful in the positive diagnosis of subacute thyroiditis.

Background/Objectives: X-linked hypophosphatemia (XLH) is the most common form of inherited rickets, caused by pathogenic mutations in the PHEX gene (phosphate-regulating endopeptidase homolog, X-linked). These mutations increase fibroblast growth factor 23 (FGF23) activity, resulting in renal phosphate wasting and defective bone mineralization. The disorder manifests with variable skeletal, dental, and extraskeletal involvement. Conventional therapy with oral phosphate and active vitamin D offers limited benefit, whereas burosumab, an anti-FGF23 monoclonal antibody, has transformed disease management. Methods: The index case, a 43-year-old woman, remained undiagnosed until adulthood, leading to severe deformities, osteoarthritis, chronic pain, and complete edentulism. Her 55-year-old sister presented with a milder phenotype. The 20-year-old nephew, diagnosed in childhood and intermittently treated with phosphate and alfacalcidol, developed short stature, genu varum, and early degenerative joint disease. Following genetic confirmation, he began burosumab therapy, which normalized phosphate metabolism, reduced pain, and improved mobility. Results: XLH demonstrates marked intrafamilial phenotypic variability despite identical PHEX mutations. In this series, delayed recognition in adults led to irreversible skeletal deformities, osteoarthritis, and dental loss, whereas earlier diagnosis in the younger patient allowed timely intervention. Conventional therapy only partially mitigated complications, while burosumab achieved rapid biochemical correction and symptomatic improvement. This contrast highlights the importance of early genetic testing, family screening, and prompt initiation of targeted treatment. Conclusions: This family cluster underscores the critical need for early diagnosis, genetic confirmation, cascade screening, and lifelong multidisciplinary care. Burosumab represents a therapeutic paradigm shift in XLH, capable of altering disease trajectory when initiated early.

(1) Background: Acromegaly is a rare disease associated with multiple complications. Consequently, it has a high clinical burden, which leads to a lower quality of life (QoL). The Acromegaly Quality of Life Questionnaire (AcroQoL) is a specific tool developed to assess the impact of the disease on a patient’s physical and emotional well-being. Current research on anxiety has shown that higher levels of psychosocial factors are linked to a poorer quality of life. (2) Methods: Our study included 40 patients (26 women and 14 men) with a mean disease duration of 85.9 ± 97.7 months. Information about disease status, associated comorbidities, and clinical and paraclinical data was obtained. All patients completed the AcroQoL questionnaire. (3) Results: The lowest score was observed on the physical scale, while the least affected scale was personal relations. Biochemical parameters, biochemical control, and adenoma size were not associated with a lower QoL. Gender, age at diagnosis, and comorbidities, such as hypertension and arthropathy, were associated with a decrease in QoL. Additionally, the presence of anxiety and depression, which were mostly reported by women (30.7%), had a negative impact on the global QoL. (4) Conclusions: Early diagnosis of acromegaly can increase the QoL by preventing comorbidities, but there are also non-modifiable factors that have been associated with a decreased QoL. Preventing depression and anxiety could serve as important targets for future interventions.

Introduction. Sodium is a crucial extracellular electrolyte for neuromuscular function, acid-base balance, cellular processes, and osmolarity regulation via transmembrane transport. Sodium deficiency, or hyponatremia, causes plasma hypoosmolarity, leading to water movement into tissues, cellular overhydration, and edema, especially within the brain. This study aimed to determine the cause of severe hyponatremia in a 65-year-old patient. Case Report. A 65-year-old patient was admitted to the emergency department of “Pius Brînzeu” County Emergency Clinical Hospital, Timișoara, Romania, presenting with severe general deterioration, asthenia, headache, vertigo, nausea, vomiting, and epigastric pain. Laboratory tests conducted at the emergency department confirmed the presence of severe hyponatremia. The patient was transferred to the Internal Medicine Clinic, where immediate treatment for hyponatremia was initiated. Subsequent biological and imaging investigations revealed adrenal insufficiency as the underlying cause of severe hyponatremia. Conclusions. Severe hyponatremia is a potentially life-threatening condition, with adrenal insufficiency as a significant underlying cause. Often overlooked due to subtle electrolyte disturbances, accurate diagnosis of secondary adrenal insufficiency is essential, as it requires lifelong hormonal replacement therapy. In such cases, targeted hydrocortisone therapy is vital for restoring hormonal balance, thus ensuring therapeutic efficacy and improving long-term patient outcomes.

Suboptimal vitamin D status is commonly observed in primary hyperparathyroidism but is rarely considered in management decisions. The present study aimed to bring additional insights on vitamin D status in primary hyperparathyroidism patients, particularly those presenting with the normocalcemic phenotype. A retrospective study was conducted on 53 confirmed primary hyperparathyroidism patients, stratified into hypercalcemic and normocalcemic groups, hospitalized at the “Pius Brînzeu” Emergency Clinical Country Hospital in Timișoara, Romania. Patients presenting with the normocalcemic phenotype had similar target-organ involvement compared to their counterparts. In this subgroup, 25 hydroxyvitamin D showed an inverse correlation with serum calcium (p = 0.048), and regression analysis identified iPTH and 25OH vitamin D as significant predictors of calcium levels (p < 0.0001; R2 = 0.571). Adenoma volume showed a significant negative correlation with 25OH vitamin D levels (p = 0.021; r = −0.61) but was later found as insignificant after confounder analysis. Postoperative measurements of 25OH vitamin D levels confirmed increasing levels after parathyroidectomy. Our findings highlight a complex relationship between PTH and vitamin D in primary hyperparathyroidism, especially in the often-underdiagnosed normocalcemic phenotype. The inverse correlation between vitamin D and calcium suggests altered homeostasis, rather than true deficiency.

Background: Type I collagen is the most abundant protein of the extracellular matrix. Pathogenic variants in COL1A1 or COL1A2 are classically associated with osteogenesis imperfecta (OI) and Ehlers-Danlos syndrome (EDS). An emerging clinical entity-COL1-related overlap disorder-encompasses individuals exhibiting phenotypic features of both conditions. Methods: We report a 55-year-old male presenting with disproportionate short stature, grayish-blue sclerae, multiple fractures, long bone deformities, joint hypermobility, and atrophic surgical scarring. The patient also had long-standing, untreated childhood-onset hypopituitarism. Imaging studies revealed numerous prior fractures, bowing of forearm bones, and multiple Wormian bones. Results: Genetic testing confirmed a novel heterozygous COL1A1 exon 14 variant (c.940G > A, p.Gly314Arg), presenting with a phenotype consistent with a COL1-related overlap syndrome. Conclusions: This case expands the phenotypic spectrum of COL1A1 mutations and supports the concept of COL1-related phenotypic overlap.

Searchable abstracts of presentations at key conferences in endocrinology ISSN 1470-3947 (print) | ISSN 1479-6848 (online)

Introduction: Graves’ disease (GD) is an autoimmune disorder affecting the thyroid gland, leading to systemic manifestations such as hyperthyroidism, Graves’ orbitopathy, and pretibial myxedema. Contrary to previous beliefs that hyperthyroidism protects against thyroid cancer, recent studies reveal an increased incidence of thyroid malignancies in GD patients, particularly differentiated thyroid carcinomas and, in rare cases, medullary thyroid carcinoma (MTC). Case series: This case series presents three female GD patients diagnosed with MTC, highlighting the complexities of diagnosis and management. All patients exhibited thyroid nodules with suspicious ultrasonographic features, elevated plasma calcitonin levels, and required total thyroidectomy. Histological examination confirmed MTC. Discussion: These cases underscore the importance of routine calcitonin screening in GD patients with thyroid nodules to facilitate early detection and improve prognosis. Our findings suggest that while the coexistence of GD and MTC is likely incidental, vigilant monitoring and comprehensive evaluation are crucial for timely intervention. Conclusions: This study advocates for integrating calcitonin testing into the standard diagnostic protocol for GD patients presenting with thyroid abnormalities.

In recent years, the worldwide epidemic of metabolic diseases, namely obesity, metabolic syndrome, diabetes and metabolic-associated fatty liver disease (MAFLD) has been strongly associated with constant exposure to endocrine-disruptive chemicals (EDCs), in particular, the ones able to disrupt various metabolic pathways. EDCs have a negative impact on several human tissues/systems, including metabolically active organs, such as the liver and pancreas. Among their deleterious effects, EDCs induce mitochondrial dysfunction and oxidative stress, which are also the major pathophysiological mechanisms underlying metabolic diseases. In this narrative review, we delve into the current literature on EDC toxicity effects on the liver and pancreatic tissues in terms of impaired mitochondrial function and redox homeostasis.

Background and Objectives: primary thyroid lymphoma (PTL) is a rare neoplasm, displaying a variety of histological features. It is often a challenge for pathologists to diagnose this tumor. Materials and Methods: this study is a retrospective analysis of clinical and pathological characteristics of a group of eleven patients (eight women and three men, mean age 68 years, range 50–80 years) diagnosed with PTL. Results: nine patients (81.81%) presented a tumor with progressive growth in the anterior cervical region, usually painless and accompanied by local compressive signs. Histologically, we identified six cases (55%) of diffuse large B-cell lymphoma, three cases (27%) of extranodal marginal zone lymphoma, one case (9%) of follicular lymphoma, and one case (9%) of mixed follicular-diffuse lymphoma. PTL was associated with microscopic Hashimoto autoimmune thyroiditis in ten cases (90.9%). Ten patients (90.9%) presented with localized disease (stage I-IIE). A percentage of 60% of patients survived over 5 years. We observed an overall longer survival in patients under 70 years of age. Conclusions: PTL represents a diagnosis that needs to be taken into account, especially in women with a history of Hashimoto autoimmune thyroiditis, presenting a cervical tumor with progressive growth. PTL is a lymphoid neoplasia with favorable outcome, with relatively long survival if it is diagnosed at younger ages.

Searchable abstracts of presentations at key conferences in endocrinology ISSN 1470-3947 (print) | ISSN 1479-6848 (online)

Background: Acromegaly is a rare disorder caused by excessive growth hormone (GH) secreted from a pituitary tumor. High levels of GH and insulin growth factor-1 can lead to renal hypertrophy, as well as to diabetes mellitus and hypertension, which negatively impact kidney function. It is believed that high GH may also be involved in the onset of diabetic nephropathy, the main cause of end-stage kidney disease in developed countries. Material and methods: This case–control study was conducted on 23 acromegalic patients and on a control group represented by 21 healthy subjects. The following parameters were determined for all the subjects: serum creatinine, serum urea, estimated glomerular filtration rate (eGFR), urinary albumin/creatinine ratio (UACR), nephrin and kidney injury molecule 1 (KIM-1). Results: Patients with acromegaly showed higher levels of UACR and lower levels of eGFR as compared to healthy subjects. No significant correlations were found between clinical or biochemical parameters associated with acromegaly and nephrin or KIM-1. Conclusions: There was no glomerular or proximal tubular damage at the time of the study, as proven by the normal levels of the biomarkers nephrin and KIM-1. Studies including more patients with uncontrolled disease are needed to clarify the utility of nephrin and KIM-1 for the detection of early kidney involvement in acromegalic patients.

Searchable abstracts of presentations at key conferences in endocrinology ISSN 1470-3947 (print) | ISSN 1479-6848 (online)

Background and Objectives: Acromegaly is a rare disease associated with increased levels of growth hormones (GHs) that stimulates the hepatic production of insulin growth factor-1 (IGF-1). Increased secretion of both GH and IGF-1 activates pathways, such as Janus kinase 2/signal transducer and activator of transcription 5 (JAK2/STAT5), and mitogen-activated protein kinase (MAPK), involved in the development of tumors. Materials and Methods: Given the disputed nature of the topic, we decided to study the prevalence of benign and malignant tumors in our cohort of acromegalic patients. In addition, we aimed to identify risk factors or laboratory parameters associated with the occurrence of tumors in these patients. Results: The study group included 34 patients (9 men (25.7%) and 25 women (74.3%)). No clear relationship between the levels of IGF-1 or GH and tumor development could be demonstrated, but certain risk factors, such as diabetes mellitus (DM) and obesity, were more frequent in patients with tumors. In total, 34 benign tumoral proliferations were identified, the most common being multinodular goiter. Malignant tumors were present only in women (14.70%) and the most frequent type was thyroid carcinoma. Conclusions: DM and obesity might be associated with tumoral proliferation in patients with acromegaly, and findings also present in the general population. In our study we did not find a direct link between acromegaly and tumoral proliferations.

Searchable abstracts of presentations at key conferences in endocrinology ISSN 1470-3947 (print) | ISSN 1479-6848 (online)

Acromegaly is a rare disease, usually caused by a pituitary tumor. It typically exhibits slow evolution and can result in numerous complications. In the present case report, the patient presented with hyperthyroidism associated with ophthalmopathy and right nodular goiter. The laboratory tests revealed persistent high levels of phosphorus without an apparent cause. After ruling out common pathologies associated with this finding, a focus was placed on the clinical aspects associated with acromegaly, a rare cause of hyperphosphatemia. Laboratory tests and MRI confirmed the diagnosis. The patient underwent transsphenoidal surgery, but the disease remained active, thus medical treatment was initiated, to a poor initial response. Associated with acromegaly, two distinct thyroid pathologies were diagnosed: Toxic adenoma and Graves' disease. This case highlights the challenges in diagnosing and managing a rare endocrine pathology.

Background and objectives: Thyroid nodules are a common finding in clinical practice and can be either benign or malignant. The aim of this study was to compare laboratory parameters between patients with malignant thyroid nodules and those with benign thyroid nodules. Materials and methods: A total of 845 patients were included, with 251 in the study group (malignant thyroid nodules) and 594 in the control group (benign thyroid nodules). Results: Our results show that there were statistically significant differences in several laboratory parameters, including FT3, FT4, ESR, fibrinogen, WBC, and lymphocyte percentage, between the two patient groups (p < 0.05). Conclusions: These findings suggest that certain laboratory parameters may be useful in differentiating between benign and malignant thyroid nodules and could aid in the diagnosis and treatment of thyroid cancer. However, further diagnostic tests such as fine-needle aspiration biopsy and imaging studies are typically required for an accurate diagnosis. Routine laboratory tests prove most effective when combined with other diagnostic methods to identify thyroid cancer. Although not conclusive on their own, these tests significantly suggest and guide physicians to suspect malignancy in thyroid nodules. This affirmative answer to our question, "Can routine laboratory tests be suggestive in determining suspicions of malignancy in the case of thyroid nodules?" aligns with the results of our study.

Searchable abstracts of presentations at key conferences in endocrinology ISSN 1470-3947 (print) | ISSN 1479-6848 (online)

Searchable abstracts of presentations at key conferences in endocrinology ISSN 1470-3947 (print) | ISSN 1479-6848 (online)