Acta Endocrinologica-Bucharest最新文献

We aim to describe a patient diagnosed with a rare and aggressive metastatic pattern of an ileal neuroendocrine tumor (NET). A 53-year-old male patient was referred to our cancer care center following the diagnosis of an ileal NET for further evaluation. As part of the initial diagnostic workup, 68Ga-DOTATOC positron emission tomography/computed tomography was conducted. The scan revealed a fulminant metastatic pattern of somatostatin-positive lesions affecting the axial and peripheral skeleton, liver, and a few lesions involving the brain leptomeninges and right extra-orbital eye muscle. Despite the prompt diagnosis and systematic therapeutic approach offered according to institutional guidelines, the patient did not achieve an optimal clinical response, resulting in his demise 18 months after his initial diagnosis. This case is shared with the primary aim of raising awareness of such an unreported aggressive metastatic pattern and encouraging further clinical investigations for patients with similar aggressive metastatic patterns to achieve optimal therapy and care.

Acute or chronic burn injuries require hormonal responses that significantly influence patient prognosis. Elevated cortisol, catecholamines, and glucagon levels, lead to important metabolic changes, such as hyperglycaemia, insulin resistance, protein catabolism, free fatty acids oxidation, and secondary metabolic acidosis. These alterations impair immune function and wound healing and trigger a systemic inflammatory response. A multidisciplinary approach is needed in order to correctly manage the aforementioned endocrine and metabolic changes. During the acute phase, glucose monitoring, corticosteroid administration for transient or iatrogenic adrenal insufficiency and electrolyte balance maintenance are critical. Chronic phase requires hormonal replacement, nutritional optimization, and anabolic agents administration to counteract catabolic states. Despite continuous advances in burn care, understanding the complex interplay between hormonal changes and immune dysfunction remains challenging. Managing burn-associated endocrine responses could lead to the development of new therapeutic strategies, including personalised and stage- adapted treatment.

Thyroid tumors are the most frequently reported endocrine malignancies. However thyroid collision tumors are rare pathological findings, representing less than 1% of thyroid cancers. In our case, a 50-year-old female patient presented with a complaint of neck swelling. During the exams, nodules were identified in both thyroid lobes. Pathologic analysis of a fine-needle aspiration biopsy(FNA) has been obtained from a 60×50 mm hypoechoic nodule raised suspicion of oncocytic carcinoma(OC). Another FNA was performed on a 17×11 mm hypoechoic solid nodule, revealing features of medullary thyroid carcinoma (MTC). Preoperative whole-body scans indicated no evidence of metastases. The patient subsequently underwent total thyroidectomy and central lymph node dissection. Pathological examination revealed OC, MTC, papillary microcarcinoma (PTMC), simultaneous metastasis of MTC and papillary thyroid carcinoma (PTC) to the same lymph node. The patient's calcitonin level was normalized postoperatively and I-131 ablation therapy was administered to the patient in the ATA high risk category. The patient was monitored under levothyroxine suppression. The simultaneous occurrence of OC, MTC and PTMC of the thyroid gland along with metastases of PTC and MTC in the same lymph node are reported in this case. To the best of our knowledge, this association had not been previously reported in the literature.

Objective: Our research investigated the impact of mobile phone distance video education of patients with type II diabetes. This approach was delivered to 100 type 2 diabetes patients based on their cognitive-social factors and metabolic variables.

Subjects and methods: A randomized controlled trial study design was employed. Diabetes education videos were designed and were streamed to the smartphones of the patients. Data were collected from the control (n=50) and experimental (n=50) groups in the first interview, and metabolic control data were recorded. The second interview was held three months after the education process was completed. During this meeting, the survey instrument and the Turkish version of the Multidimensional Diabetes Questionnaire was re-administered to both groups, and metabolic control data were recorded.

Results: Following the distance video education, there was a significant decrease in the FPG (1.2 mmol/L) HbA1c (-1.04%), LDL (-0.4 mmol/L) and BMI (-0.7 kg/m²) values of the experimental group, and their cognitive-social factors were found to improve in terms of perceiving diabetes.

Conclusions: In our study, distance education via mobile phones was an influential approach on cognitive-social factors and metabolic variables of type 2 diabetes patients.

Context: Premature adrenarche (PA) is linked to prematurity, small for gestational age (SGA), and rapid weight gain. Understanding these factors is important for early identification and management of PA.

Objective: To evaluate the impact of prematurity, SGA, obesity, and rapid weight gain on the development of PA in Turkish girls.

Design: A retrospective review of medical records from girls diagnosed with PA between 2015 and 2020.

Subjects and methods: A total of 104 girls diagnosed with PA were included. Clinical data, including birth weight, gestational age, body mass index (BMI), and hormone levels (DHEA-S), were analyzed. The relationships between PA and prematurity, SGA, obesity, and rapid weight gain (delta weight SDS) were assessed.

Results: Of the 104 patients, 14.4% were born prematurely, 28.8% were SGA, and 30.5% were overweight or obese. A positive correlation was observed between delta weight SDS and DHEA-S levels (r=0.523, p<0.01). While obesity was not significantly associated with elevated DHEA-S levels, rapid weight gain was a key factor.

Conclusions: Prematurity and SGA are significant risk factors for PA, with rapid weight gain playing a critical role. Monitoring weight gain in SGA and premature infants is essential to mitigate PA-related risks.

Prolactin is a multifunctional hormone produced by the pituitary gland, essential for more than just the growth of mammary tissue. It plays a crucial role in lobuloalveolar development and lactation. Understanding multifunctional hormone, prolactin, and its role in breast tissue is a promising avenue in our fight against breast cancer. This paper aims to shed light on the physiological mechanisms of prolactin in breast cancer, its prognostic value, and potential therapeutic approaches, offering a significant step forward in our battle against this disease.

The underlying mechanisms for endocrine disturbances in patients with kidney alterations are complex.

Aim: To provide better longitudinal follow-up of children, especially to check their progress through puberty.

Material and methods: A prospective study was conducted at the "Louis Turcanu" Emergency Hospital for Children in Timisoara, Romania during 01.01.2022- 31.12.2024. The study population included ten pediatric patients with end stage renal disease (ESRD) on hemodialysis. Data were collected from the electronic medical records and included demographic information and relevant laboratory parameters, which reflect the patients' anemia status, inflammation, mineral metabolism and other endocrine abnormalities.

Results: Erythropoietin doses ranged from 87 to 176 units/kg once a week at the beginning of our study, higher than guidelines recommendations. Most patients presented with hemoglobin levels below the normal range which slightly increased over the 3 years period. Vitamin D levels ranged from 8.1 to 55.8 ng/mL. These resulted in a poor control of the mineral bone disease associated with kidney failure.

Conclusions: The loss of kidney function is associated with an impaired control of phosphor-calcium balance, and anemia, growth and pubertal delay in children. This study highlights the need for individualized treatment plans and a multidisciplinary approach in pediatric patients with ESRD.

Objective: ARMC5 mutations are responsible for the development of primary bilateral macronodular adrenal hyperplasia (PBMAH). In this study, we aimed to report a novel ARMC5 germline variant in a PBMAH patient family.

Method: CT examination and dexamethasone suppression test (DST) were used in the diagnosis of PBMAH. Sanger sequencing was used to validate the familial heredity. For the novel variant, protein predictive analysis was performed to study the changes of secondary and tertiary structures and hydrophobicity.

Results: A 45 years old male (proband, III-1) was diagnosed as PBMAH. Whole-exome sequencing (WES) was performed, finding one mutation: c.719_ 724dup, p Arg240_ Pro241dup. Sanger sequencing showed the II-2, III-1, IV-1 with heterozygous gene, confirming the familial heredity. For protein predictive analysis, the predicted secondary structure of variants has one alpha-helix structure incomplete compared with normal ARMC5. The tertiary structure could draw the same conclusion, that hydrophobicity decreases after mutation.

Conclusion: We reported a new-found ARMC5 germline variant in PBMAH using WES and protein predictive analysis. With the help of WES, early diagnosis of PBMAH could help variant carriers to prevent the occurrence of cancer by lifetime follow-up.

Purpose: Primary hyperparathyroidism (PHP) is a prevalent endocrine disorder requiring surgical treatment. The rise of minimally invasive parathyroidectomy as the favored surgical approach emphasizes the significance of localization studies. This study aims to explore clinical and laboratory profiles of PHP patients and evaluate the efficacy of diverse localization methods in a substantial patient cohort.

Methods: We analyzed clinical features, biochemical parameters, and imaging outcomes for localization, as well as postoperative histopathological findings in 327 diagnosed PHP patients who underwent surgery. Initial localization methods, which included ultrasonography (US), US-guided Parathormone (PTH) washout analysis, and 99mTechnetium-Sestamibi/123Iodine Scintigraphy (MIBI-SPECT/CT), were applied to all patients. Advanced techniques like Four-Dimensional Computed Tomography (4D-CT) and 18F-Fluorocholine Positron Emission Tomography (18F-FCH PET/CT) were used for cases where initial methods failed and/or for secondary intervention.

Results: Minimally invasive surgery accounted for 74% (n=241) of cases. Histopathological analysis revealed single adenoma in 94.5% (n=309) patients, hyperplasia in 5.2% (n=17), and cancer in 0.3% (n=1). Adenoma volume showed a significant positive correlation with serum calcium and parathyroid hormone (PTH) levels (p<0.001). 82 and 26 cases required 4D-CT and 18F-FCH PET/CT respectively, for localization. Positive predictive values (PPV) for imaging modalities were: US (84.56%), US-guided PTH-washout analysis (87.30%), MIBI-SPECT/CT (92.1%), 4D-CT (81.94%), and 18F-FCH PET/CT (95.83%).

Conclusion: Serum calcium and PTH levels estimate adenoma size. Initial localization studies (i.e.US, PTH washout and, MIBI-SPECT/CT) effectively localized most adenomas. 4D-CT showed notable efficacy, and 18F-FCH PET/CT had the highest PPV for adenoma localization when the initial studies failed.