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: 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: 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.

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: 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.

(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.