K Çetin, B Singin, Y F Bahar, N Özkan Zarif, H Ongun, Ö Altıok Clark, H Ünver Tuhan, M Parlak
{"title":"A RARE CAUSE OF NEONATAL SALT WASTING: CLINICAL MANAGEMENT OF A CASE WITH PSEUDOHYPOALDOSTERONISM DETECTED WITH A NOVEL HOMOZYGOUS VARIANT IN THE SCNN1A GENE.","authors":"K Çetin, B Singin, Y F Bahar, N Özkan Zarif, H Ongun, Ö Altıok Clark, H Ünver Tuhan, M Parlak","doi":"10.4183/aeb.2025.277","DOIUrl":"10.4183/aeb.2025.277","url":null,"abstract":"<p><strong>Introduction: </strong>Pseudohypoaldosteronism (PHA) is a rare condition that can lead to life-threatening hyperkalemia, cardiac arrest and death if not rapidly recognised and treated. Systemic PHA results from the inactivation of variants in genes encoding subunits of the epithelial sodium channel (ENaC). Frequent dose revision is required in oral replacement therapy in patients with systemic PHA. This condition requires a lifelong close follow-up and treatment process in patients.</p><p><strong>Case description: </strong>In this study, we present the clinical follow-up of a newborn diagnosed with PHA who presented at 9 days of age with severe dehydration, malnutrition, vomiting and lethargy. A novel pathogenic homozygous mutation, c.1536C>A p.(Tyr512*), was identified in exon 11 of the SCNN1A gene.</p><p><strong>Discussion: </strong>Systemic PHA is a rare, life-threatening disorder that may be misdiagnosed in early infancy. Our case highlights a severe systemic presentation associated with ENaC dysfunction. Reporting the clinical course together with genetic findings may improve recognition of severe phenotypes, support earlier diagnosis, and contribute to a better understanding of genotype-phenotype relationships in systemic PHA.</p><p><strong>Conclusion: </strong>Neonates with hyperkalemia and hyponatremia should prompt suspicion of PHA and early aggressive treatment; this case highlights severe systemic PHA and the importance of combined clinical and genetic evaluation.</p>","PeriodicalId":50902,"journal":{"name":"Acta Endocrinologica-Bucharest","volume":"21 2","pages":"277-281"},"PeriodicalIF":0.8,"publicationDate":"2025-04-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC13450677/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"148698472","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":4,"RegionCategory":"医学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"OA","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}
M Erdem, C Aydin, B Helvaci, S Faki, H Baser, O Topaloglu, B Cakir
{"title":"BASAL MORNING CORTISOL IN PATIENTS REFERRED FOR ACTH STIMULATION TESTING: DIAGNOSTIC PERFORMANCE IN A RETROSPECTIVE COHORT.","authors":"M Erdem, C Aydin, B Helvaci, S Faki, H Baser, O Topaloglu, B Cakir","doi":"10.4183/aeb.2025.180","DOIUrl":"10.4183/aeb.2025.180","url":null,"abstract":"<p><strong>Context: </strong>Accurate diagnosis of adrenal insufficiency (AI) is crucial to prevent potentially life-threatening complications. Early-morning basal serum cortisol is widely used to guide further testing, its diagnostic performance varies across clinical settings.</p><p><strong>Objective: </strong>To evaluate the diagnostic performance of early-morning basal cortisol in patients referred for ACTH stimulation testing and to determine whether basal cortisol alone can reliably exclude AI.</p><p><strong>Design and methods: </strong>This retrospective cohort study included 404 adult outpatients (mean age 45.3 years; 18.8% male) who underwent standard-dose ACTH (250 µg) stimulation testing between 2018 and 2022. All consecutive patients with available early-morning basal cortisol measurements were included. AI was defined as a peak cortisol response <18 µg/dL (≈497 nmol/L). Diagnostic performance was assessed using logistic regression and receiver operating characteristic (ROC) analyses.</p><p><strong>Results: </strong>AI was diagnosed in 27 patients (6.7%). Basal cortisol levels were inversely associated with ACTH test failure and demonstrated moderate discriminatory ability (AUC = 0.85). Despite higher basal cortisol being associated with lower AI probability, a small proportion of patients within clinically relevant cortisol ranges still failed stimulation testing.</p><p><strong>Conclusion: </strong>Early-morning basal cortisol provides valuable diagnostic information but cannot reliably exclude adrenal insufficiency when used alone. Confirmatory dynamic testing remains necessary to ensure diagnostic safety.</p>","PeriodicalId":50902,"journal":{"name":"Acta Endocrinologica-Bucharest","volume":"21 2","pages":"180-184"},"PeriodicalIF":0.8,"publicationDate":"2025-04-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC13450679/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"148698531","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":4,"RegionCategory":"医学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"OA","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}
{"title":"PITUITARY METASTASIS FROM BLADDER UROTHELIAL CARCINOMA: A RARE CASE REPORT AND A REVIEW OF THE LITERATURE ON PITUITARY METASTASIS OVER THE LAST DECADE.","authors":"N Kurtulmus, K Kayikci, N Dincer, O Er, B Atalar","doi":"10.4183/aeb.2025.284","DOIUrl":"10.4183/aeb.2025.284","url":null,"abstract":"<p><strong>Objective: </strong>Pituitary metastases are a rare entity, account for 1% of all intracranial metastases. This study aims to report a pituitary metastasis (PM) from bladder cancer and to provide a review of PM characteristics.</p><p><strong>Method: </strong>This systematic review was conducted in accordance with the Preferred Reporting Items for Systematic Reviews and Meta-Analyses (PRISMA) guidelines. A comprehensive literature search was performed using PubMed for studies published between January 2014 and January 2024.</p><p><strong>Results: </strong>One hundred twenty eight patients (66 females, 62 males) were identified in the literature over the past decade. Median age was 61 years. The most common primary malignancies were lung cancer (24.2%) and breast cancer (21.1%). The most common symptom was visual impairment (46.1%). Deficiencies in adrenocorticotropic hormone (ACTH), thyroid stimulating hormone (TSH) and gonadotropin hormones were diagnosed in 46%, 40.4%, 35% of cases, respectively. Diabetes insipidus (DI) was present in 33.6% of cases and panhypopituitarism was present in 21.9% of cases. PM management included transsphenoidal surgery alone (25%), transsphenoidal surgery combined with radiotherapy (16.4%), radiotherapy alone (10.2%), or observation without intervention (10.9%). The median survival following the diagnosis of PM was 6 months.</p><p><strong>Conclusion: </strong>While PM remain a infrequent entity, prolonged lifespan of cancer patients has led to increased detection. Patients frequently present with visual disturbance,diabetes insipidus and anterior pituitary hormone deficiency. No standardized treatment guidelines exist. Surgery and/or radiotherapy are used as palliative modalities rather than curative treatments. The prognosis is generally poor and is mostly related to the stage and type of the primary tumor.</p>","PeriodicalId":50902,"journal":{"name":"Acta Endocrinologica-Bucharest","volume":"21 2","pages":"284-292"},"PeriodicalIF":0.8,"publicationDate":"2025-04-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC13450667/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"148698144","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":4,"RegionCategory":"医学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"OA","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}
{"title":"DIABETIC MASTOPATHY WITH SUSPICIOUS MALIGNANT IMAGING CONFIRMED BY SURGERY.","authors":"J K Yu, J Zhang, N Meng, X Wang, Y Yang, D Li","doi":"10.4183/aeb.2025.282","DOIUrl":"https://doi.org/10.4183/aeb.2025.282","url":null,"abstract":"","PeriodicalId":50902,"journal":{"name":"Acta Endocrinologica-Bucharest","volume":"21 2","pages":"282-283"},"PeriodicalIF":0.8,"publicationDate":"2025-04-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC13450660/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"148698065","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":4,"RegionCategory":"医学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"OA","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}
N Șoldan, C Glavce, A Kozma, A Borosanu, S Turcu, M Petrescu
{"title":"PSYCHOSOCIAL FACTORS ASSOCIATED WITH MATERNAL PLASMA OXYTOCIN IN LATE PREGNANCY: A MULTIVARIABLE ANALYSIS.","authors":"N Șoldan, C Glavce, A Kozma, A Borosanu, S Turcu, M Petrescu","doi":"10.4183/aeb.2025.172","DOIUrl":"10.4183/aeb.2025.172","url":null,"abstract":"<p><strong>Context: </strong>Oxytocin (OXT) supports social affiliation and affect regulation; in late pregnancy, variability in plasma OXT may index the psychosocial context relevant to perinatal risk.</p><p><strong>Objectives: </strong>To test (i) differences in plasma OXT by adult attachment (AAS/R-AAS); (ii) associations with pregnancy planning, partner support, maternal perception, and history of emotional difficulties; and (iii) psychosocial factors independently associated with OXT.</p><p><strong>Design: </strong>Cross-sectional study.</p><p><strong>Subjects and methods: </strong>Thirty-five women at 28-39 weeks' gestation (subsample of 140) provided morning EDTA plasma (08:00-10:00), stored at -80 °C. OXT was quantified by ELISA without solid-phase extraction or technical duplicates. Analyses comprised one-way ANOVA with Bonferroni tests, non-parametric contrasts (Mann-Whitney/Kruskal-Wallis with Holm adjustment), and HC3-robust multiple regression (α=0.05).</p><p><strong>Results: </strong>OXT differed by attachment (secure > avoidant > anxious-ambivalent; F(2,32)=31.115, p<0.001, ηp<sup>2</sup>=0.660). Univariate contrasts indicated higher OXT with planned pregnancy, partner support, positive (vs negative) maternal perception, and with a history of emotional difficulties; in the multivariable model (R<sup>2</sup>=0.718; adjusted R<sup>2</sup>=0.617), only attachment independently predicted OXT (avoidant vs secure B=-227.7 pg/mL; anxious-ambivalent vs secure B=-289.4 pg/mL).</p><p><strong>Conclusions: </strong>In late pregnancy, plasma OXT co-varies with adult attachment and, at group level, with proximal psychosocial factors; after adjustment, attachment remains the dominant predictor. Psychosocial screening is clinically actionable, whereas OXT measurement should remain a research tool.</p>","PeriodicalId":50902,"journal":{"name":"Acta Endocrinologica-Bucharest","volume":"21 2","pages":"172-179"},"PeriodicalIF":0.8,"publicationDate":"2025-04-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC13450664/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"148698112","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":4,"RegionCategory":"医学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"OA","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}
J K Yu, L Zheng, N Meng, X Zhang, J Zhang, S Huang, M Zhang, F Yao, D Li
{"title":"ASSOCIATION BETWEEN OBESITY AND BRAFV600E MUTATION IN PAPILLARY THYROID CARCINOMA: A SINGLE-CENTER RETROSPECTIVE STUDY.","authors":"J K Yu, L Zheng, N Meng, X Zhang, J Zhang, S Huang, M Zhang, F Yao, D Li","doi":"10.4183/aeb.2025.239","DOIUrl":"10.4183/aeb.2025.239","url":null,"abstract":"<p><strong>Background: </strong>In recent years, the incidence of thyroid cancer has been continuously increasing, which is in line with the prevalent trend of obesity.</p><p><strong>Objective: </strong>This study aims to investigate the relationship between obesity and BRAFV600E mutation.</p><p><strong>Methods: </strong>The study collected clinical and demographic data of 140 patients with papillary thyroid carcinoma. Statistical analyses included independent-samples t-tests, chi-square tests, and univariate and multivariable logistic regression analyses, as well as receiver operating characteristic (ROC) curve analysis.</p><p><strong>Results: </strong>The mean BMI was significantly higher in the BRAFV600E-positive group than in the negative group (p<0.001). BMI was independently associated with BRAFV600E mutation in both univariate (p=0.007) and multivariate analyses (p=0.026). ROC analysis demonstrated that BMI had modest predictive value (p=0.003). Research has observed the existence of sex differences, with a higher proportion of males in the BRAFV600E-positive group (p=0.047). Among BRAFV600E-positive patients, males had higher BMI and were more frequently classified as overweight or obese (P < 0.001). However, sex was not identified as an independent predictor in multivariate analysis. No significant associations were found between BRAFV600E mutation and Hashimoto's thyroiditis, diabetes, or fatty liver disease.</p><p><strong>Conclusion: </strong>This study demonstrates the association between higher BMI and BRAFV600E mutation in patients with PTC.</p>","PeriodicalId":50902,"journal":{"name":"Acta Endocrinologica-Bucharest","volume":"21 2","pages":"239-245"},"PeriodicalIF":0.8,"publicationDate":"2025-04-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC13450675/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"148698448","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":4,"RegionCategory":"医学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"OA","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}
G Koracevic, M Stojanovic, M Stanojkovic, M Zdravkovic, M Zdravkovic, D Simic, N Bozinovic, R Jankovic-Tomasevic, M Koracevic
{"title":"IS THE RISK OF SUDDEN CARDIAC DEATH INCREASED IN CUSHING'S DISEASE AND SYNDROME?","authors":"G Koracevic, M Stojanovic, M Stanojkovic, M Zdravkovic, M Zdravkovic, D Simic, N Bozinovic, R Jankovic-Tomasevic, M Koracevic","doi":"10.4183/aeb.2025.246","DOIUrl":"10.4183/aeb.2025.246","url":null,"abstract":"<p><strong>Introduction: </strong>Sudden cardiac death (SCD) is a widespread and devastating event. As much as a quarter or half of all cardiovascular (CV) deaths are due to SCD. A lot of work is done to decrease the number of SCD. Recently several publications pointed out (very) high CV risk in Cushing's syndrome (CS) and CV risk is generally associated with SCD. Therefore, the aim of the study is to analyze the available publications regarding CS and SCD.</p><p><strong>Materials and methods: </strong>We initiated the search in SCOPUS using the terms \"Cushing\" and \"sudden death\". The additional documents were retrieved from Medline, Springer, SAGE, Science Direct, Cambridge, Wiley, PubMed, and Oxford Journals. There are no trials or registries published and therefore the narrative review is an appropriate approach to describe the problem, appraise the available evidence, and propose a solution.</p><p><strong>Results: </strong>There are four papers available from SCOPUS and four additional papers from other sources. The oldest paper on the topic is almost a century old (from 1927), the last one 33 years old, suggesting that this problem (SCD in CS) was not considered important for three decades. Therefore, a paucity of papers analyzed SCD risk in CS. We managed to identify several RFs of SCD that are prevalent in CS.</p><p><strong>Conclusion: </strong>Clustering of SCD risk factors suggest increased risk of SCD in Cushing disease (CD) and CS. The risk stratification tools for CV events should be studied, particularly so for SCD. Preventive measures should be tailored to the level of CV risk in individual CS patients. In addition, it carries a promise of prevention in individual patients, since SCD is preventable in part.</p>","PeriodicalId":50902,"journal":{"name":"Acta Endocrinologica-Bucharest","volume":"21 2","pages":"246-255"},"PeriodicalIF":0.8,"publicationDate":"2025-04-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC13450670/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"148698109","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":4,"RegionCategory":"医学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"OA","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}
M Yilmaz Kars, M H Dogan, A Dikmeer, I Cordan, F Hicret Tekin, M C Kizilarslanoglu
{"title":"COEXISTING DIAGNOSES OF IATROGENIC CUSHING'S SYNDROME AND PYODERMA GANGRENOSUM DUE TO INAPPROPRIATE TOPICAL CORTICOSTEROID USAGE IN AN OLDER PATIENT.","authors":"M Yilmaz Kars, M H Dogan, A Dikmeer, I Cordan, F Hicret Tekin, M C Kizilarslanoglu","doi":"10.4183/aeb.2025.265","DOIUrl":"10.4183/aeb.2025.265","url":null,"abstract":"<p><p>Corticosteroids are systemically or locally used agents in treating many skin disorders. Besides their benefits within the correct indications, they may also increase many adverse reaction risks. Systemic absorption of topical glucocorticoids may rarely cause Iatrogenic Cushing Syndrome (ICS) in the geriatric population. On the other hand, to the best of our knowledge, ICS cases coexisting with pyoderma gangrenosum (PG) have not been reported before in the geriatric population. Herein, we aimed to present a 67-year-old female patient who developed ICS and was accompanied by PG due to long-term use of topical clobetasol 17-propionate therapy.</p>","PeriodicalId":50902,"journal":{"name":"Acta Endocrinologica-Bucharest","volume":"21 2","pages":"265-271"},"PeriodicalIF":0.8,"publicationDate":"2025-04-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC13450673/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"148698439","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":4,"RegionCategory":"医学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"OA","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}
B Yiğit Yalçin, Z G Bayram, F Bektaş, U Mutlu, H Hacisahinogullari, G Yenidunya Yalin, N Gül, O Soyluk Selcukbiricik, R Meral, C Ozturker, S Tuncer, R Tanakol, F Aral, A Kubat Üzüm
{"title":"CLINICAL OUTCOMES OF INTRAVENOUS GLUCOCORTICOID THERAPY WITH OR WITHOUT ORBITAL RADIOTHERAPY OR MYCOPHENOLATE MOFETIL IN ACTIVE GRAVES' ORBITOPATHY.","authors":"B Yiğit Yalçin, Z G Bayram, F Bektaş, U Mutlu, H Hacisahinogullari, G Yenidunya Yalin, N Gül, O Soyluk Selcukbiricik, R Meral, C Ozturker, S Tuncer, R Tanakol, F Aral, A Kubat Üzüm","doi":"10.4183/aeb.2025.227","DOIUrl":"10.4183/aeb.2025.227","url":null,"abstract":"<p><strong>Objective: </strong>Graves' orbitopathy (GO) is an autoimmune inflammatory disorder characterized by proptosis, diplopia, and extraocular motility restriction. Intravenous glucocorticoids (IVGC) are the mainstay of treatment in active moderate-to-severe GO; however, some patients require additional therapy. This study compared the clinical outcomes of IVGC alone and in combination with orbital radiotherapy (RT) or mycophenolate mofetil (MMF).</p><p><strong>Methods: </strong>Forty patients with active moderate-to-severe GO (Clinical Activity Score ≥3) treated between 2015 and 2023 were included. Patients were grouped as IVGC monotherapy (n=24), IVGC+RT (n=8), and IVGC+MMF (n=8). Outcomes included CAS, proptosis (Hertel exophthalmometry), diplopia, and motility restriction at baseline and 6 months.</p><p><strong>Results: </strong>CAS significantly decreased in all groups (p<0.001). A ≥2-point reduction in CAS was observed in 91.7% of the IVGC group and in all combination therapy groups (p=1.000). Proptosis reduction ≥2 mm occurred in 57.1%, 100%, and 71.4% of patients in the IVGC, IVGC+RT, and IVGC+MMF groups, respectively (p=0.534). No statistically significant differences were detected in diplopia or motility outcomes between treatment groups. However, these findings should be interpreted cautiously given the limited sample size and unequal group distribution.</p><p><strong>Conclusion: </strong>IVGC effectively reduces disease activity in active moderate-to-severe GO. Although combination therapies showed numerically favorable trends in some outcomes, the retrospective design, unequal treatment allocation, and limited sample size preclude definitive conclusions regarding comparative efficacy between treatment strategies. Larger prospective studies are warranted to better delineate the role of combination approaches in active moderate-to-severe GO.</p>","PeriodicalId":50902,"journal":{"name":"Acta Endocrinologica-Bucharest","volume":"21 2","pages":"227-233"},"PeriodicalIF":0.8,"publicationDate":"2025-04-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC13450671/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"148698479","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":4,"RegionCategory":"医学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"OA","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}
Z Bayramoglu, Z N Akyol Sari, E Karakilic Ozturan, A D Kardelen Al, S Poyrazoglu, F Bas, F Darendeliler
{"title":"CLINICAL SIGNIFICANCE AND ASSOCIATIONS OF POLYCYSTIC THYROID DISEASE IN CHILDREN.","authors":"Z Bayramoglu, Z N Akyol Sari, E Karakilic Ozturan, A D Kardelen Al, S Poyrazoglu, F Bas, F Darendeliler","doi":"10.4183/aeb.2025.185","DOIUrl":"10.4183/aeb.2025.185","url":null,"abstract":"<p><strong>Background: </strong>Polycystic thyroid disease (PCTD) is a recently defined entity, and its clinical significance has yet to be clarified in children. We aimed to investigate clinical and laboratory associations of PCTD.</p><p><strong>Methods: </strong>This study included 72 consecutive children diagnosed with PCTD. Auxological measurements, additional clinical diagnoses, ultrasonographic results as thyroid volumes, associated parenchymal diseases and solid nodules, serum thyroid hormone, and autoantibody levels, along with urinary iodine levels, were recorded.</p><p><strong>Results: </strong>Thirty-two male (mean age: 8.10±4.99 years) and 40 female (mean age: 9.51±4.68 years) patients were evaluated. No significant difference was found among the mean ages of gender groups (p= 0.22). Mean total thyroid volume was 5.49±4.1 mL and the mean colloidal cyst diameter was 4.36±2.34 mm among all participants. Colloidal cysts were found commonly in both thyroid lobes (90.5%). Solid nodules were found in 11% of the patients without a depicted malignant one. Initial thyrotropin (TSH) values were elevated in 29% (mean:10.89±4.66 mIU/L) of the patients, and initial free thyroxine (fT4) levels were normal in all participants. 31.9% of the patients underwent thyroid hormone replacement therapy with a mean L-T4 dosage of 20.01±9.02 μg/day during the follow-up.</p><p><strong>Conclusion: </strong>PCTD is an increasingly recognized radiological entity that frequently correlates with subclinical hypothyroidism in the pediatric population.</p>","PeriodicalId":50902,"journal":{"name":"Acta Endocrinologica-Bucharest","volume":"21 2","pages":"185-191"},"PeriodicalIF":0.8,"publicationDate":"2025-04-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC13450661/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"148698450","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":4,"RegionCategory":"医学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"OA","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}