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; $R^2$ = 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/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.

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.

Background and Objectives: The prevalence of thyroid nodules and type 2 diabetes mellitus (T2D) has increased. This study firstly aims to assess the prevalence of T2DM among thyroid nodules patients who underwent total thyroidectomy in the Western Romanian population. By focusing on the biochemical and hormonal parameters, it also aims to provide insights into possible connections between T2D and different types (benignant or malignant) of thyroid nodules. Materials and Methods: A total of 926 patients who underwent total thyroidectomy were analysed, comprising 99 (10.7%) T2D patients and 827 (89.3%) non-diabetic patients (non-T2D). Results: This study’s results revealed an increased prevalence of T2D among thyroid nodules patients. Among these patients, higher values of FT4 and inflammatory markers and a higher prevalence of malignant nodules (55%, p = 0.001) were noted. Conclusions: Our study revealed an increased prevalence of T2D among thyroid nodules patients. The biochemical profile of thyroid nodules in T2D patients presents aspects, like elevated FT4 and inflammatory markers, which should be considered in their clinical management. Furthermore, a T2D patient seems to be more likely to develop thyroid malignancies. Thyroid screening strategies in diabetic patients should be considered.

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.

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.