Background: Gestational diabetes mellitus (GDM) is characterized by increased insulin resistance that develops during pregnancy and is associated with adverse maternal and neonatal outcomes. Follistatin-like 1 (FSTL1) is a glycoprotein implicated in inflammatory pathways and mechanisms of insulin resistance. This study aimed to evaluate circulating FSTL1 levels and assess the potential association of FSTL1 gene polymorphisms, rs12173 and rs869247, with GDM using molecular techniques. Methods: This retrospective case-control study included women diagnosed with GDM and healthy pregnant controls. Participants were enrolled after diagnosis, and clinical and laboratory data were analyzed. Genotyping of FSTL1 variants was performed using the polymerase chain reaction-restriction fragment length polymorphism (PCR-RFLP) technique, while serum FSTL1 concentrations were quantified using the enzyme-linked immunosorbent assay (ELISA) method. Results: Serum FSTL1 levels did not differ significantly between patients with GDM and healthy controls (p = 0.917). No significant differences were observed in the distribution of genotypes or allele frequencies of the FSTL1 rs12173 and rs869247 variants between the groups (p > 0.05 for all). Serum triglyceride (TG) levels were significantly higher in individuals with the CT genotype of the rs12173 polymorphism compared with those with other genotypes [CT vs. CC, p = 0.041; CT vs. TT, p = 0.018] among patients with GDM. However, this association lost its statistical significance when a multivariable linear regression model was applied, adjusting for maternal age, body mass index (BMI), and Homeostasis Model Assessment of Insulin Resistance (HOMA-IR) (adjusted p = 0.386, 95% confidence interval [CI]: -0.038 to 0.098). No significant differences were observed in metabolic parameters, including fasting plasma glucose (FPG), hemoglobin A1c (HbA1c), lipid profile, and HOMA-IR values, among the genotypes of the rs869247 polymorphism in patients with GDM (p > 0.05 for all). Conclusions: No significant association was observed between the FSTL1 gene variants rs869247 and rs12173 or serum FSTL1 levels and the risk of developing GDM.
Primary hyperparathyroidism (PHPT) is a prevalent endocrine disorder characterized by disrupted calcium-phosphorus homeostasis. Accurate biochemical assessment, including albumin-corrected calcium, and preoperative localization of parathyroid adenomas are essential for optimal management. This study aimed to evaluate temporal changes in imaging detectability, biochemical markers, and adenoma size, and to assess novel biochemical indices in patients with asymptomatic PHPT (aPHPT).In this multicenter retrospective study, 416 aPHPT patients underwent clinical, biochemical, and radiological evaluation at three time points. Biochemical parameters included albumin-corrected calcium, phosphorus, parathyroid hormone (PTH), 25-hydroxyvitamin D, alkaline phosphatase (ALP), and 24-hour urinary calcium. Novel indices-calcium/phosphorus (Ca/P), PTH/phosphorus (PTH/P), and calcium×chloride/phosphorus (Ca×Cl/P)-were calculated to evaluate diagnostic and predictive value. Imaging included high-resolution neck ultrasonography, 99mTc-sestamibi SPECT/CT, and four-dimensional CT to assess adenoma detectability and size changes. Statistical analyses included repeated-measures ANOVA or Friedman tests for temporal comparisons, correlation analyses, logistic regression for predictors of adenoma detection, and ROC curves to evaluate diagnostic accuracy. A p-value<0.05 was considered significant.Among 416 patients (87% female), ultrasound-detected adenomas decreased over time due to surgery of clearly visible lesions. CT and SPECT/CT initially improved localization, with later decline in CT but continued gains in SPECT/CT. Adenoma size increased, and the PTH/phosphorus ratio changed significantly. Baseline albumin-corrected calcium, phosphorus, and adenoma size predicted radiological detectability, with ROC AUCs of 0.78 for adenoma size and 0.72 for phosphorus. Surgically treated patients exhibited more pronounced biochemical abnormalities and superior CT-based localization.Following imaging and biochemical assessments, including albumin-corrected calcium, improve detection, monitoring, and management of aPHPT. Novel indices such as PTH/phosphorus and Ca/P ratios provide practical, low-cost tools for early disease identification and risk stratification. Integrating dynamic biochemical markers with imaging supports individualized, evidence-based clinical decision-making.
Abstract Introduction Papillary thyroid carcinoma (PTC) is the most common type of thyroid malignancy and generally has an excellent prognosis. However, distant metastases, particularly to the brain, are rare and associated with poor outcomes. This case report presents a 67-year-old female patient with a history of PTC, who developed brain metastasis in the follow-up. Clinical Case A 67-year-old female patient presented four years ago with a rapidly growing 4 cm mass, extending from the right thyroid gland to the right jugular vein. Fine-needle aspiration biopsy (FNAB) of the lesion was reported as suspicious for follicular neoplasm. Ultrasound imaging revealed pathological lymphadenopathy in the bilateral cervical chains. The patient underwent total thyroidectomy and bilateral neck dissection. Pathology confirmed the diagnosis of the follicular variant of papillary thyroid carcinoma (PTC), with extrathyroidal extension into muscle and adipose tissue, as well as lymph node metastases. After surgery, while the patient's TSH level was 68.6 µIU/ml, her thyroglobulin (Tg) level was 1.02 ng/ml, with negative anti-Tg antibodies. The patient received 150 mCi of radioactive iodine (RAI) approximately 3 months after surgery. One year after RAI therapy, a whole-body iodine scan showed no evidence of residual disease or metastasis. Follow-up Tg levels of the patient remained around 0.04 ng/ml. 3.5 years after surgery, there was a slight increase in thyroglobulin levels (0.26 ng/ml), although no recurrent disease was detected on ultrasound of the thyroid bed. The patient was planned to be under close surveillance but she did not come to visits regularly. The patient subsequently presented with complaints of imbalance and brain MRI revealed a mass lesion measuring 46x43x55 mm in the frontal region. The mass was surgically resected, and the pathology confirmed metastatic papillary thyroid carcinoma (PTC). A postoperative whole-body iodine scan was negative for metastatic disease. At that time, the TSH level was 0.5 µIU/ml, and thyroglobulin (Tg) was 0.04 ng/ml. Cranial radiotherapy was planned for the patient. Conclusion Approximately 10% of patients with PTC develop distant metastases, most commonly to the lungs and bones. Brain metastasis from PTC is extremely rare, occurring in less than 1% of cases. Due to its rarity, brain metastasis from PTC is not typically considered in the differential diagnosis for patients presenting with new neurological symptoms, potentially delaying diagnosis. Despite aggressive treatment, the prognosis for patients with PTC and brain metastasis remains poor, with a median survival of approximately 17 months. This case highlights the importance of considering the possibility of brain metastasis in high-risk PTC patients who present with neurological symptoms despite the lack of significant elevation in thyroglobulin (Tg) levels or evidence of recurrence on neck ultrasound.
Purpose Despite several factors are associated with worse disease-free survival (DFS) and prognosis in medullary thyroid carcinoma (MTC) patients, the effect of microscopic extrathyroidal extension (mETE) on the prognosis and DFS is not well understood. This study aims to evaluate the impact of mETE on DFS and prognosis in patients with MTC. Methods This multicenter study included 208 patients with MTC (17.8% with hereditary disease). Patients with mETE were compared to those without mETE in terms of clinical and histopathological variables. Results Among the 208 patients, 16.3% (n=34) had mETE on histopathological analysis. Patients with mETE were more likely to have larger tumors, higher serum calcitonin (CTN) levels before and after surgery, increased rates of neck lymph node (LN) and distant metastasis, multifocal disease, and advanced disease stage. Kaplan–Meier analysis showed a significantly lower DFS in patients with mETE than those without mETE (14.7% vs. 71.3%, log-rank p<0.001). However, mETE was not an independent contributing factor for persistent/recurrent disease, whereas neck LN involvement was the strongest independent contributing factor for persistent/recurrent disease (HR: 1.1; 95% CI 0.4–1.8, p=0.76 and HR: 9.6; 95% CI 1.21–76.9, p=0.03, respectively). Conclusion mETE in patients with MTC is associated with a lower DFS, larger tumor sizes, a higher likelihood of neck LN and distant metastasis, advanced stage, higher serum CTN levels, multifocality, and persistent/recurrent disease. However, mETE was not an independent predictor of persistent/recurrent disease. Further studies with a larger number of patients with mETE could further clarify the impact of mETE on the prognosis of MTC.
In the pathogenesis of the primary hyperparathyroidism (PHPT), dysregulation has been observed in extracellular signal-regulated 1/2 (ERK 1/2), c-Jun N-terminal kinase (JNK), and phosphatidylinositol 3 kinase (PI3K) pathways. Progranulin (PGRN) is a glycoprotein found in many tissues and has been observed to activate MAPK, JNK, PI3K pathways in multiple studies. We aim to investigate the progranulin expression in parathyroid adenomas and establish its relationship with clinical parameters and comorbidities in patients with PHPT. 182 cases were included in our study, consisting of 102 patients with PHPT and 80 controls. All cases with PHPT were operated and parathyroid adenomas were pathologically confirmed. The PGRN staining patterns were examined by applying anti-granulin (anti-GRN) antibody at 1/300 dilution to the parathyroid samples of the cases. Within the patient group, negative staining was observed in 59 (57.8
Lipodystrophies are rare disorders characterized by loss of body fat resulting in leptin deficiency. Patients are predisposed to metabolic complications such as severe insulin resistance, hypertriglyceridemia, and hepatic steatosis. Werner syndrome (WS) is among the progeroid syndromes in the classification of lipodystrophy. In this case report, we describe two siblings. In the first case, lipodystrophy was suspected when the patient presented with acute pancreatitis and hypertriglyceridemia, and a diagnosis of WS was confirmed. Subsequently, genetic screening of the patient's sister, who had early-onset diabetes, also revealed WS.
MicroRNAs (miRNAs) have been shown to function either as oncogenes or tumor suppressors, depending on the cellular context. This study aimed to explore the potential involvement of specific miRNAs in pituitary tumorigenesis and to assess their association with clinical features in patients diagnosed with acromegaly. The study comprised 39 acromegaly patients and 39 healthy controls who were matched for age and gender. Real-time PCR was used to determine the miR-26a, let-7, miR-16, miR-223 and miR-128a levels in peripheral blood. The patients' treatment methods, radiographic characteristics of the adenoma, and demographic characteristics were assessed. While patients with acromegaly and controls had similiar miR-26a, miR-16 and miR-128a levels, acromegalics had non-significantly lower let-7 levels [0.68 (0.45–1.05) vs.1.04 (0.53–1.94); p = 0.053] and significantly higher miR-223 levels [1.90 (0.75–3.23) vs. 0.86 (0.52–1.41); p = 0.021] compared to controls. No significant associations were observed between miRNA expression levels and radiological features of the adenoma, including tumor size, optic chiasm compression, and invasion of the cavernous sinus. Moreover, miR-26a expression is demonstrated to be increased in patients who required medical treatment after surgery (n: 26, 66.6
The primary objective of this study was to retrospectively evaluate the demographic, biochemical, and clinical characteristics of patients with asymptomatic primary hyperparathyroidism (aPHPT), analyze their long-term outcomes, and discuss the effectiveness of current therapeutic strategies in light of the existing literature. We anticipate that our study will provide clinicians with guidance regarding surgical decision-making beyond the standard criteria for aPHPT. This was a nationwide, multicenter, observational, retrospective cohort study. All tertiary care endocrinology departments across the country were invited to participate. Center inclusion criteria required the enrollment of a sufficient number of aPHPT patients, confirmed by careful diagnostic evaluation in accordance with established guidelines, regular follow-up for at least one year, and systematic monitoring for complications. Data from 27 centers representing various regions of Turkey were included in the study. A total of 829 patient records were reviewed, and after excluding 25 patients who did not meet eligibility criteria, 804 patients were included in the final analysis. The mean age was 55.59 ± 11.54 years, with a female predominance (85
Abstract Introduction Lipodystrophies are rare disorders characterized by loss of body fat resulting in leptin deficiency. Patients are predisposed to metabolic complications such as severe insulin resistance, hypertriglyceridemia, and hepatic steatosis. Werner syndrome (WS) is among the progeroid syndromes in the classification of lipodystrophy. Due to its extremely rare occurrence, it can often be overlooked by the clinician. Clinical Case A 19 years old male patient hospitalized for non-biliary acute pancreatitis was consulted for hypertriglyceridemia and hyperglycemia. He had no history of any disease or medication use. His sister was diagnosed with type 2 diabetes mellitus at age 29. She was using linagliptin and gliclazide for 3 years. She had short stature (147 cm) and low body weight (40 kg) and had scleroderma-like skin findings. The patient also had short stature (157 cm) and low body weight (41 kg). He had scleroderma-like skin findings and generalized loss of subcutaneous adipose tissue. The laboratory results were; glucose, 261 mg/dl; creatinine, 0.46 mg/dl; ALT, 24 U/l; lipase, 161 U/l; HbA1c, 9.6%; triglyceride, 799 mg/dl; HDL, 9.6 mg/dl; LDL, 75 mg/dl; c-peptide, 4.3 ng/dl. The thyroid function test results (TSH: 29.7 µIU/ml, fT4: 6.81 pmol/L, Anti-TPO: negative) were consistent with primary hypothyroidism. Hepatosteatosis was observed in abdominal ultrasonography. We initiated intensive insulin, metformin as well as fenofibrate and levothyroxine treatment. The patient needed high insulin doses (60 IU/day). Measured serum leptin levels were found to be low (2.11 ng/ml) in suspicion of lipodystrophy. Genetic analysis of the patient and his sister showed homozygous mutation in the WRN gene (c.1105C>T p.Arg369Ter, Homozygous) which was compatible with WS. The patient was started on leptin analog therapy in a clinical trial. Conclusion WS is an exceptionally rare autosomal recessive genetic disorder characterized by premature aging and multisystemic complications. The clinical features encompass scleroderma-like skin changes, short stature, low body weight, alopecia, cataracts, osteoporosis, and a propensity for atherosclerotic complications and malignancies. Impaired glucose tolerance is reported in 15%–20% of WS subjects, diabetes mellitus in 55%–70%, and dyslipidemia in 60%–85%. The presence of hypertriglyceridemia, diabetes mellıtus and generalized lack of subcutaneous adipose tissue led us to suspect from lipodystrophy. Although acute pancreatitis due to hypertriglyceridemia can be seen in lipodystrophy (15-20%), first presentation of WS presenting with acute pancreatitis is very rare in the literature. The most common mutation in non-Japanese patients in WRN gene is c.1105 C>T (18.6%). Metreleptin, an analog of human leptin, is shown to ameliorate the metabolic derangements. WS remains a diagnostic challenge due to its rarity, atypical presentation, and should be kept in mind in patients with severe dyslipidemia and insulin resistance.
Hypoglycemia is a common problem in patients with type 1 diabetes and can be asymptomatic, mild, and severe. Despite therapeutic approaches and technological advances, hypoglycemia continues to be an important cause of morbidity and mortality in patients. Impairment in counterregulatory defense mechanisms and unawareness of hypoglycemia are the main risk factors for hypoglycemia. Recurrent episodes of hypoglycemia cause an awareness of hypoglycemia and defective counter-regulation, resulting in hypoglycemia-associated autonomic deficiency (HAAF) syndrome. Efforts are needed to prevent hypoglycemia, and approaches include glucose monitoring, patient education, and medication adjustment. Advances in technology, such as insulin pumps and devices that allow continuous glucose monitoring, can significantly reduce the risk of hypoglycemia in patients when used appropriately.
Abstract Introduction Ectopic Cushing's syndrome (ECS) is a rare endocrine disorder caused by the autonomous secretion of ACTH from a tumor apart from the hypophysis. ECS is the second most common paraneoplastic syndrome associated with small cell lung cancer (SCLC). Due to the aggressive nature of the syndrome, ECS is difficult to diagnose. Most patients present electrolyte disturbances and muscle weakness rather than the typical clinical features of CS. Clinical Case A 70-year-old female patient hospitalized due to pleural effusion was referred for worsening hyperglycemia. She had no previous history of diabetes mellitus. She had a history of 90 pack-years of smoking and chronic obstructive pulmonary disease. The laboratory results were: fasting plasma glucose 216 mg/dl; creatinine, 0.81 mg/dl; sodium, 138 mmol/l; potassium, 3.1 mmol/l; HbA1c, 8.3%; Arterial blood gas analysis revealed metabolic alkalosis (pH 7.63, HCO3 53.6 meq/L). Due to resistant hypokalemia, the patient was evaluated for CS. The patient's ACTH level was 415.5 pg/ml and cortisol level was 63.44 μg/dl. Table 1 shows the tests perfomed for the diagnosis of CS. Pituitary MRG revealed no pathology. IPSS could not be performed as it is not available at our center. A suspicious mass in the right lung was observed on the thorax CT. The pathology of the cytology sample from the pleural effusion revealed SCLC. A chemotherapy regimen containing cisplatin was initiated. Intravenous potassium and acetazolamide treatment were administered for resistant hypokalemia. However, the patient died one month after diagnosis due to type 2 respiratory failure. Conclusion Ectopic secretion of ACTH accounts for 10–15% of CS. ECS is usually caused by mainly SCLC (45%), thymic carcinoma (15%), bronchial carcinoid (10%) and pancreas islet-cell carcinoma (10%). ECS is reported to occur in 1.6%–4.5% of patients with SCLC. IPSS is the most reliable examination for ECS. For ECS, surgery remains the optimal treatment. Some reports showed that metyrapone, ketoconazole and octreotide are effective but not widely used. In our case, the presence of resistant hypokalemia, metabolic alkalosis, and worsening hyperglycemia with the lack of classic clinical features of CS led us to suspect ECS. ECS has a higher incidence of hypokalemic alkalosis than other causes of Cushing's syndrome (>90% vs. 10%). Excessive amounts of adrenal steroids with the inhibition of the enzyme 11β-hydroxysteroid dehydrogenase may cause this pathology. This enzyme normally converts cortisol to cortisone avoiding the mineralocorticoid action of cortisol. In conclusion, although rare, in cases where conditions such as metabolic alkalosis, resistant hypokalemia, with the absence of classic clinical features of CS, the possibility of ectopic CS should be kept in mind.Table 1.Laboratory results of the patient
Background/ objectives: Rosacea is a common chronic inflammatory skin disorder. Endocrinedisrupting chemicals (EDC) are toxic substances, that may gain entry through the skin and subsequently interfere with hormonal and immune functions. Bisphenol A (BPA) and pentachlorophenol sodium (PCS) are two of these EDCs, incriminated in the pathogenesis of certain inflammatory skin disorders. We aimed to test the hypothesis that exposure to BPA and PCS might be involved in the pathogenesis of rosacea. Methods: This prospective cross-sectional study involved 34 patients with rosacea (18F/16 M; mean age 48.5 +/- 11 years) and 34 age and sex-matched healthy controls (20 F/14 M; mean age 48.2 +/- 10.2 years). Main anthropometric measures, fasting plasma glucose (FPG), insulin, HOMA-IR, lipids, C-reactive protein (CRP), BPA, and PCS levels were quantified and recorded. Results: Serum CRP (9.6 +/- 3.4 vs. 3.7 +/- 1.6 mg/L, respectively, p0.05 for all). Serum BPA levels were 55.8 +/- 14.4 and 51.9 +/- 19.2 ng/mL, and PCS levels were 63.3 +/- 45.9 ng/mL and 68.6 +/- 40.8 ng/mL for patients and healthy controls, respectively. There was no significant difference in BPA and PCS levels between the two groups (p > 0.05 for both). No significant association was found among HOMAIR, CRP, BPA, and PCS levels (p > 0.05 for all). Conclusions: Although the present study fails to provide presumptive evidence for the role of BPA and PCS in rosacea, the question as to other EDCs might be involved in its etiopathogenesis remains. This hypothesis requires confirmation in large-scale future prospective trials.
Despite several factors that may have been associated with poor disease-free survival (DFS) in patients with medullary thyroid carcinoma (MTC), only a few studies have evaluated the prognostic factors affecting DFS in MTC patients. Therefore, this study evaluated the prognostic factors affecting DFS, in a large number of patients with MTC. Patients treated for MTC were retrospectively analyzed. Patients were stratified as having persistent/recurrent disease and no evidence of disease (NOD) at the last follow-up. The factors affecting DFS after the initial therapy and during the follow-up period were investigated. This study comprised 257 patients [females 160 (62.3
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)
Histologically aggressive micropapillary thyroid carcinomas (PTMC) subtypes are thought to be associated with an aggressive clinical course. However, evidence for unfavorable clinical outcomes in patients with aggressive PTMC subtypes is not clear. In this study, we intended to determine the difference in clinical outcomes between patients with aggressive and non-aggressive PTMC subtypes. In this multicenter cohort study, the computer-recorded clinical and histopathological data of patients who underwent thyroid surgery between January 2000 - January 2021 in 9 referral centers and were diagnosed as PTMC were analyzed. A total of 1585 patients [female 1340 (84.5%), male 245 (15.5%), mean age 47.9±11.63 years), with a mean follow-up time of 66.55±37.16 months], were included in the study. Ninety-eight cases were diagnosed as aggressive and 1487 as non-aggressive subtypes. Persistent/recurrent disease was observed in 33 (33.7% )and 41 (2.8%) patients with aggressive and non-aggressive subtypes (p<0.001). Diseases-free survival rates were markedly lower in patients with aggressive than in those with non-aggressive PTMC subtypes (66.3 vs. 94.8%, log-rank p<0.001). Moreover, in multivariate analysis, aggressive histology was an independent predictor of persistent/recurrent disease, after controlling for other contributing factors (HR 5.78, 95% CI 3.32-10, p<0.001). Patients with aggressive PTMC subtypes had higher rates of incomplete biochemical and structural response than patients with non-aggressive subtypes as well (p<0.001). Aggressive PTMC subtypes share many characteristics with histologically identical tumors>1 cm in size. Therefore, the histopathological subtype of PTMC should be taken into consideration to tailor a personalized management plan.
Searchable abstracts of presentations at key conferences in endocrinology ISSN 1470-3947 (print) | ISSN 1479-6848 (online)
Despite the presumed overdiagnosis of papillary thyroid microcarcinoma (PTMC) which has resulted in a new trend toward less-extensive surgery and a preference for active surveillance, the impact of microscopic extrathyroidal extension (mETE) on the clinical outcomes of PTMC is still controversial. This study assessed the impact of mETE on the clinical outcomes of patients with classic subtype PTMC. The data of consecutive patients who underwent thyroidectomy and were histopathologically diagnosed as classic subtype PTMC were analyzed. Cox’s proportional hazards model was used to assess the impact of contributing variables on persistent/recurrent disease. Disease-free survival was estimated using the Kaplan-Meier method. This study included 1013 patients (84
Searchable abstracts of presentations at key conferences in endocrinology ISSN 1470-3947 (print) | ISSN 1479-6848 (online)