Journal of Clinical Research in Pediatric Endocrinology最新文献

{"title":"Pathogenesis of Thyroid Cancer with Particular Emphasis on the Role of Anoikis.","authors":"Gözde Akın Kağızmanlı, Selen Kum Özşengezer, Korcan Demir, Zekiye Altun","doi":"10.4274/jcrpe.galenos.2025.2025-1-11","DOIUrl":"https://doi.org/10.4274/jcrpe.galenos.2025.2025-1-11","url":null,"abstract":"<p><p>Thyroid cancer (TC) is the most prevalent malignancy of the endocrine system, with its incidence has been increasing worldwide in recent years. Although it generally has a favorable prognosis, aggressive forms such as anaplastic TC are associated with high mortality rates. Cell-microenvironment interactions largely influence the progression and metastatic behavior of TC; however, the precise mechanisms underlying these processes remain inadequately understood. One critical factor influencing metastasis is anoikis, a form of programmed cell death triggered by the detachment of cells from the extracellular matrix. Resistance to anoikis allows tumor cells to escape apoptosis, survive in circulation, and metastasize to distant organs. Given its pivotal role in metastasis, anoikis resistance represents a key area of study in understanding cancer progression. This review covers the molecular mechanisms and pathogenesis of TC, particularly emphasizing the role of anoikis resistance in metastatic spread and its potential as a therapeutic target.</p>","PeriodicalId":48805,"journal":{"name":"Journal of Clinical Research in Pediatric Endocrinology","volume":" ","pages":""},"PeriodicalIF":1.5,"publicationDate":"2025-05-29","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"144175415","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":4,"RegionCategory":"医学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}

{"title":"Clinical Characteristics and Genotype-phenotype Correlation in Turkish Patients with a Diagnosis of Resistance to Thyroid Hormone Beta","authors":"Gönül Büyükyılmaz, Büşranur Çavdarlı, Serkan Bilge Koca, Keziban Toksoy Adıgüzel, Oya Topaloğlu, Cevdet Aydın, Sema Hepsen, Erman Çakal, Nur Semerci Gündüz, Mehmet Boyraz, Fatih Gürbüz, Hüseyin Demirbilek","doi":"10.4274/jcrpe.galenos.2024.2024-8-14","DOIUrl":"10.4274/jcrpe.galenos.2024.2024-8-14","url":null,"abstract":"<p><strong>Objective: </strong>Resistance to thyroid hormone beta (RTHβ) is a rare disorder characterized by a fairly heterogeneous clinical presentation due to varying degrees of tissue response to thyroid hormone. The present study aimed to evaluate the clinical and laboratory features and genotype-phenotype relationship of Turkish patients with RTHβ.</p><p><strong>Methods: </strong>Patients who underwent a THRβ gene analysis between September 2019 and September 2023 were retrospectively reviewed.</p><p><strong>Results: </strong>Fifty patients with the clinical features of RTHβ syndrome or a family history of an index case were included. A total of eight different heterozygous pathogenic/likely pathogenic missense variants, three of which were novel, were detected in <i>THRB</i> in 30 patients from 8 unrelated families. Although most patients with RTHβ were asymptomatic, seven patients exhibited various symptoms. Moreover, seven patients had received various treatments before diagnosis. Thyroid autoantibody was positive in 23% of all cases with a variant, and goitre was detected in 56% of children with a variant. While thyroid nodules were detected in seven adult patients, two adults had been diagnosed with papillary thyroid cancer. One child had attention-deficit disorder, learning disability, and type 1 diabetes mellitus. Of the 20 patients without a variant, TSHoma was detected in one.</p><p><strong>Conclusion: </strong>The present study provides an overview of clinical and genetic characteristics of patients with genetically confirmed RTHβ and expanded the <i>THRB</i> gene variant database with three novel variants. Although most patients with RTHβ are asymptomatic, molecular genetic analysis of the <i>THRB</i> gene and regular follow-up because of the apparent risk of concurrent autoimmune diseases or thyroid cancer is warranted.</p>","PeriodicalId":48805,"journal":{"name":"Journal of Clinical Research in Pediatric Endocrinology","volume":" ","pages":"191-201"},"PeriodicalIF":1.5,"publicationDate":"2025-05-27","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"142878015","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":4,"RegionCategory":"医学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}

{"title":"Long-term Impact of Continuous Glucose Monitoring Assistance on Glycemic Control in Children and Adolescents with Type 1 Diabetes Following the 2023 Kahramanmaraş Earthquake","authors":"Gürkan Tarçın, Nurgül Ataş, Mevra Yaşar, Kadriye Cansu Şahin, Gül Trabzon, İsmail Dündar, Dilek Çiçek, Hanife Gül Balkı, Hayrullah Manyas, Abdurrahman Bitkay, Can Celiloğlu, Semine Özdemir Dilek, Sümeyra Kılıç, Duygu Düzcan Kilimci, Aysun Ata, Emine Çamtosun, Eda Mengen, Murat Karaoğlan, Bilgin Yüksel, Seyit Ahmet Uçaktürk","doi":"10.4274/jcrpe.galenos.2024.2024-9-9","DOIUrl":"10.4274/jcrpe.galenos.2024.2024-9-9","url":null,"abstract":"<p><strong>Objective: </strong>To evaluate the impact of continuous glucose monitoring (CGM) assistance on glycemic control in children with type 1 diabetes (T1D) in earthquake-affected regions, comparing those who benefited from CGM with those who did not. Additionally, the study assessed changes in CGM metrics over nine months of CGM use.</p><p><strong>Methods: </strong>A multicenter, cross-sectional study was conducted across 11 centers in Türkiye. Children with T1D were divided into two groups: those who received CGM support (CGM+) and those who continued with finger-stick glucose monitoring (CGM-). Hemoglobin A1c (HbA1c) levels were measured at four intervals: pre-earthquake, 3-6 months, 6-9 months, and 9-12 months post-earthquake. In the second phase, CGM metrics were analyzed over 90-day intervals in the CGM+ group with at least 85% sensor usage.</p><p><strong>Results: </strong>A total of 532 children were included. Median HbA1c levels decreased from 9.1% pre-earthquake to 8.8% 3-6 months postearthquake (p=0.027). In the CGM+ group, HbA1c levels significantly decreased from 8.8% to 8.3% (p<0.001), while no significant change was observed in the CGM- group. Of the 412 subjects with access to CGM reports, 105 (25.4%) had less than 85% sensor usage and were excluded. In the remaining 307 patients, there was a significant increase in active sensor time and daily glucose measurements, along with a reduction in hypoglycemia frequency over the 90-day intervals (p<0.001 for all three).</p><p><strong>Conclusion: </strong>CGM assistance improved glycemic control in children with T1D, even under the challenging conditions following a devastating earthquake. These findings highlight the need for broader access to CGM devices to enhance diabetes management.</p>","PeriodicalId":48805,"journal":{"name":"Journal of Clinical Research in Pediatric Endocrinology","volume":" ","pages":"161-167"},"PeriodicalIF":1.5,"publicationDate":"2025-05-27","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"142878351","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":4,"RegionCategory":"医学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}

{"title":"Clinical and Genetic Analyses of Two Unrelated 46,XX Girls with Combined 17α-hydroxylase/17,20-lyase Deficiency from China","authors":"Yamei Li, Ting Han, Yingxia Wang, Jie Gao, Jianglin Zhang, Yinglan Wu","doi":"10.4274/jcrpe.galenos.2023.2022-8-7","DOIUrl":"10.4274/jcrpe.galenos.2023.2022-8-7","url":null,"abstract":"<p><p>Cytochrome P450 17α-hydroxylase (P450c17) enzyme, encoded by the <i>CYP17A1</i> gene, catalyzes 17a-hydroxylation and 17,20-lyase reactions essential for cortisol and sex steroid synthesis. 17α-hydroxylase/17,20-lyase deficiency (17OHD) is a rare autosomal recessive disease caused by <i>CYP17A1</i> mutations, classified into complete and partial forms based on P450c17 defect severity. We report two unrelated girls diagnosed with 17OHD at the age of 15 and 16. Both presented with primary amenorrhea, infantile genitalia, absent axillary and pubic hair, and hypergonadotropic hypogonadism. Case 1 exhibited undeveloped breasts, nocturnal enuresis, hypertension, hypokalemia, and reduced cortisol and 17α-hydroxyprogesterone. Case 2 showed a growth spurt, spontaneous breast development, elevated corticosterone, and decreased aldosterone. Both had a 46,XX karyotype. Genetic analysis revealed a homozygous p.S106P mutation in Case 1 and compound heterozygous p.R347C/p.R362H mutations in Case 2, with the latter representing a novel combination. Based on the clinical, laboratory and genetic findings, Case 1 and Case 2 were definitively diagnosed as complete and partial forms of 17OHD, respectively. Both received estrogen and glucocorticoid replacement therapy, leading to gradual development of the uterus and breasts, and the onset of first menstruation. In Case 1, hypertension, hypokalemia, and nocturnal enuresis were significantly alleviated. In conclusion, we report the first case of complete 17OHD accompanied by nocturnal enuresis and identify a novel compound heterozygote (p.R347C / p.R362H) of <i>CYP17A1</i> gene in a case of partial 17OHD.</p>","PeriodicalId":48805,"journal":{"name":"Journal of Clinical Research in Pediatric Endocrinology","volume":" ","pages":"211-218"},"PeriodicalIF":1.5,"publicationDate":"2025-05-27","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"9308384","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":4,"RegionCategory":"医学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}

{"title":"Assessment of Quadriceps Muscle Strength and Thickness in Adolescents with Polycystic Ovary Syndrome: A Case-control and Longitudinal Follow-up Study","authors":"Ayşe Gül Güven, Murat Kara, Sinem Güneri, Demet Aygün Arı, Erdem Karabulut, Hüseyin Demirbilek, Gürkan Bozdağ, Orhan Derman","doi":"10.4274/jcrpe.galenos.2025.2024-12-5","DOIUrl":"10.4274/jcrpe.galenos.2025.2024-12-5","url":null,"abstract":"<p><strong>Objective: </strong>To date, muscle strength and thickness have not been investigated in adolescents with polycystic ovary syndrome (PCOS). This study aimed to investigate whether differences exist in these parameters between adolescents with PCOS and healthy controls. Additionally, we evaluated the effects of six months combined oral contraceptive (COC) treatment on quadriceps muscle characteristics.</p><p><strong>Methods: </strong>The study included adolescents diagnosed with PCOS and healthy peers. Dynamometers were used to measure knee muscle and hand grip strengths, and ultrasound was used to measure quadriceps muscle thickness. In the PCOS group, all measurements were repeated after six months of COCs treatment.</p><p><strong>Results: </strong>There were 20 participants in each of the PCOS and control groups. There were no significant differences between the groups in terms of age, weight, height, pubertal stage, Physical Activity Questionnaire scores, quadriceps muscle thickness, grip strength and isokinetic knee strengths at baseline. Within the PCOS group, significant increase were observed in weight, height, quadriceps strength and lipid levels after six months of treatment (all p<0.05). Subgroup analysis of COC treatments revealed significantly greater gains in quadriceps muscle strength among levonorgestrel users (n=6) compared to those using cyproterone acetate users (n=13).</p><p><strong>Conclusion: </strong>Quadriceps muscle thickness and strength were comparable between adolescent with PCOS and controls, indicating no intrinsic muscular deficit. However, significantly greater improvements in quadriceps muscle strength were observed in those using levonorgestrel-containing COCs users compared to cyproterone acetate users. These findings suggest a potential role of progestin androgenicity in muscle strength. Further longitudinal studies with larger cohorts are warranted to validate these preliminary findings and to explore the impact of COCs with varying androgenic properties.</p>","PeriodicalId":48805,"journal":{"name":"Journal of Clinical Research in Pediatric Endocrinology","volume":" ","pages":"202-210"},"PeriodicalIF":1.5,"publicationDate":"2025-05-27","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"143069016","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":4,"RegionCategory":"医学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}

{"title":"Adaptation and Validity/Reliability Evaluation of Menstrual Bleeding Questionnaire in Turkish Adolescent Girls","authors":"Ayşe Aşık, Aşan Önder Çamaş, Hamdi Cihan Emeksiz","doi":"10.4274/jcrpe.galenos.2024.2024-2-12","DOIUrl":"10.4274/jcrpe.galenos.2024.2024-2-12","url":null,"abstract":"<p><strong>Objective: </strong>The Menstrual Bleeding Questionnaire (MBQ) is a scale developed to identify women with heavy menstrual bleeding. The aim was to evaluate the validity/reliability of the Turkish version of this scale.</p><p><strong>Methods: </strong>The MBQ was translated into Turkish and adapted to the adolescent age group. Face validity of the draft scale was tested by piloting. To ensure concurrent validity, MBQ was first applied together with the Short Form-36 (SF-36). Afterwards, both questionnaires were given to adolescent girls and the reliability of the scale was evaluated by retesting in a subgroup.</p><p><strong>Results: </strong>The pilot study was performed with ten adolescent girls, median age 14.5 (13-16) years. The main follow-up reliability study included 251 girls medan age 16 (11-18) years, of whom 63 (25.1%) underwent retesting. There was a strong correlation between the results of the first MBQ and the second MBQ. The reliability coefficients of both the SF-36 and MBQ were above the acceptable limit of 0.70. Kaiser-Meyer-Olkin (KMO) sampling adequacy for the first application of the MBQ was above the good level (KMO=0.831, p<0.001). Eigen values of 48.73% were determined in four factors. When the pattern matrix of the first application of MBQ was examined, distribution of the items was generally regular. Receiver operator characteristics analysis of the MBQ values showed areas under the curve of the symptom effect (0.882), symptom (0.884) and severity (0.903) sub-dimension values were high. MBQ results revealed abnormal uterine bleeding in 11/251 (4.3%) cases.</p><p><strong>Conclusion: </strong>This Turkish adaptation of the MBQ demonstrated good internal consistency, high reliability, and acceptable validity. Using it with adolescent Turkish girls will facilitate evaluation of conditions associated with abnormal uterine bleeding.</p>","PeriodicalId":48805,"journal":{"name":"Journal of Clinical Research in Pediatric Endocrinology","volume":" ","pages":"185-190"},"PeriodicalIF":1.5,"publicationDate":"2025-05-27","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"142878107","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":4,"RegionCategory":"医学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}

{"title":"Is Automated Insulin Delivery System Therapy Safe and Effective in Children Under Seven Years Old?","authors":"Nihal Gül Uslu, Deniz Özalp Kızılay, Günay Demir, Yasemin Atik Altınok, Şükran Darcan, Samim Özen, Damla Gökşen","doi":"10.4274/jcrpe.galenos.2024.2024-11-2","DOIUrl":"10.4274/jcrpe.galenos.2024.2024-11-2","url":null,"abstract":"<p><strong>Objective: </strong>To evaluate the off-label use of the MiniMed™ 780G system in children under seven years old, as clinical outcomes in this age group are less well-established, despite the improvements in glycemic control seen with MiniMed™ 780G therapy.</p><p><strong>Methods: </strong>Children under seven years old with type 1 diabetes using MiniMed™ 780G pump therapy were compared with children of similar age and gender using MiniMed™ 640G insulin pump therapy and multiple-dose insulin therapy with continuous glucose monitoring systems (CGMs). CGM metrics, total daily insulin (TDI) dose, and hemoglobin A1c (HbA1c) levels were evaluated retrospectively at baseline and at the 3^rd, 6^th, and 12^th months.</p><p><strong>Results: </strong>At the initiation of MiniMed™ 780G therapy, the mean age was 5.25±1.22 years (range: 2.8-6.8 years), and the mean TDI was 10.12±4.34 U/day (range: 4.5-17.0 U/day). The glucose management indicator and HbA1c remained lower in the MiniMed™ 780G group at the 3^rd, 6^th, and 12^th months compared to baseline (p=0.009 and p<0.001, respectively). In the MiniMed™ 780G group, time above range (TAR) was significantly lower at the 3^rd, 6^th, and 12^th months (p=0.018, p=0.017 and p=0.04, respectively) while time in range (TIR) was higher at the 3^rd, and 12^th months (p=0.026 and p=0.019, respectively) compared to other groups. The coefficient of variation (CV) of the sensor glucose and HbA1c were lower at the 12th month (p=0.008 and p=0.015, respectively) compared to both other groups. No instances of ketoacidosis or severe hypoglycemic events were observed in any of the children during the follow-up period.</p><p><strong>Conclusion: </strong>The absence of significantly higher levels of hypoglycemia compared to other groups at any time point, along with a significant decrease in TAR across all time points, a significant increase in TIR at the 3^rd and 12^th months, and a significant decrease in HbA1c and CV suggests that the MiniMed™ 780G system is both safe and effective for children under seven years old.</p>","PeriodicalId":48805,"journal":{"name":"Journal of Clinical Research in Pediatric Endocrinology","volume":" ","pages":"153-160"},"PeriodicalIF":1.5,"publicationDate":"2025-05-27","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"142677505","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":4,"RegionCategory":"医学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}

{"title":"Could MOTS-c Levels in Children with Type 1 Diabetes Mellitus Be an Indicator for Early Diabetic Kidney Disease?","authors":"İlknur Girişgen, Selda Ayça Altıncık, Esin Avcı, Murat Öcal, Tülay Becerir, Gaye Malaş Öztekin, Bayram Özhan, Selçuk Yüksel","doi":"10.4274/jcrpe.galenos.2024.2024-5-6","DOIUrl":"10.4274/jcrpe.galenos.2024.2024-5-6","url":null,"abstract":"<p><strong>Objective: </strong>To compare serum mitochondrial open reading frame of 12S rRNA-c (MOTS-c) levels, a new potential biomarker for oxidative stress, in children with type 1 diabetes mellitus (T1DM) and healthy children. A further aim was to investigate serum MOTS-c levels as a potential early indicator of diabetic kidney disease (DKD) by correlating levels with changes in glomerular filtration and microalbuminuria.</p><p><strong>Methods: </strong>Patients with a diagnosis of T1DM and healthy controls were recruited. MOTS-c, urinary albumin excretion, estimated glomerular filtration rate (eGFR), and hemoglobin A1c (HbA1c) were evaluated and clinical features and anthropometric measurements were collected. Patients were stratified according to diabetes duration, presence of albuminuria, glomerular hyperfiltration, eGFR decline and metabolic control.</p><p><strong>Results: </strong>The T1DM group included 82 [female:male (F:M) 1:1.64] patients while the controls numbered 61 (F:M 1:0.97), with respective mean ages of 14.3±3.3 and 10.6±4.2 years (p<0.01). MOTS-c levels were significantly lower in the T1DM group than controls (76.2±1.3 vs 105.2±7.0, p<0.001). No difference was found in MOTS-c levels between patient subgroups categorized by diabetes duration, obesity, metabolic control, hypertension, hyperlipidemia, glomerular hyperfiltration, decline in eGFR, and presence of microalbuminuria. Simple linear regression indicated that MOTS-c was not predictive for DKD.</p><p><strong>Conclusion: </strong>MOTS-c levels were lower in children with T1DM than in healthy children. However, the lack of association of MOTS-c with renal biomarkers suggested that it is not an effective early marker for DKD. However, this finding suggests that the onset of oxidative damage and mitochondrial dysfunction in T1DM is independent of DKD. In addition, the results suggests that HbA1c and duration of diabetes are significant risk factors for development of microalbuminuria, while changes in eGFR and microalbuminuria continue to serve as indicators of DKD.</p>","PeriodicalId":48805,"journal":{"name":"Journal of Clinical Research in Pediatric Endocrinology","volume":" ","pages":"168-175"},"PeriodicalIF":1.5,"publicationDate":"2025-05-27","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"142878341","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":4,"RegionCategory":"医学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}

{"title":"Evaluation of Arrhythmia Risk in Children with Type 1 Diabetes Mellitus","authors":"Yasemin Özdemir Şahan, Gönül Büyükyılmaz, Oğuzhan Doğan, Mehmet Boyraz, İbrahim İlker Çetin, İbrahim Ece","doi":"10.4274/jcrpe.galenos.2024.2024-7-28","DOIUrl":"10.4274/jcrpe.galenos.2024.2024-7-28","url":null,"abstract":"<p><strong>Objective: </strong>Children with type 1 diabetes mellitus (T1DM) are susceptible to cardiac arrhythmias and even sudden cardiac death. The aim of this study was to explore the risk of arrhythmia among children with T1DM by assessing electrocardiographic (ECG) parameters.</p><p><strong>Methods: </strong>Children diagnosed with T1DM, aged 10-18 years, and healthy children matched for age and gender were included. The ECG ventricular depolarization-repolarization parameters of both groups and the correlation of these parameters with length of time since diagnosis of T1DM, markers of metabolic control, and the presence of additional complications were evaluated.</p><p><strong>Results: </strong>There were 165 children with type 1 diabetes and 154 controls in the groups, which were similar in for age, gender, weight, height, and body mass index. The median length of time since diagnosis of diabetes was 5 years. QT (maximum), QTc (minimum and maximum), QT and QTc dispersion, Tp-e (minimum and maximum), Tp-e dispersion, and Tp-e/QTc-maximum values were significantly higher in the diabetic group compared with controls, although QTc intervals were within normal ranges. No significant correlation was observed between ECG findings and length of time since diagnosis of T1DM, HbA1c levels, or complications.</p><p><strong>Conclusion: </strong>As children with T1DM are at high risk of impaired ventricular depolarization and repolarization, they should undergo cardiac assessment and regular annual ECG monitoring.</p>","PeriodicalId":48805,"journal":{"name":"Journal of Clinical Research in Pediatric Endocrinology","volume":" ","pages":"146-152"},"PeriodicalIF":1.5,"publicationDate":"2025-05-27","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"142677502","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":4,"RegionCategory":"医学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}

{"title":"Insulinoma Associated with MEN1 Syndrome: A Case of Persistent Hypoglycemia in a School-aged Child","authors":"Rodrigo Lemus-Zepeda, Aura María Salazar-Solarte, Diana Marcela Vasquez-Forero, Mario Jr. Angulo-Mosquera, Liliana Mejía-Zapata","doi":"10.4274/jcrpe.galenos.2023.2023-3-10","DOIUrl":"10.4274/jcrpe.galenos.2023.2023-3-10","url":null,"abstract":"<p><p>Insulinoma is a rare cause of non-ketotic hypoglycemia, both in adults and in children. Pediatric patients account for approximately 5% of all cases, mostly due to isolated benign lesions, but insulinoma may also be part of a multiple endocrine neoplasia type 1 (<i>MEN1</i>) syndrome. We report the case of a patient with multiple hospitalizations related to hypoglycemia and neuroglycopenia symptoms. Multiple studies demonstrated the presence of an insulinoma. Subsequently, an unreported likely pathogenic variant in the <i>MEN1</i> gene was identified, suggesting that the clinical presentation of this patient should be part of the spectrum of <i>MEN1</i> syndrome. The primary significance of this report is to underscore that insulinoma may present as the initial manifestation of <i>MEN1</i> syndrome, reported to account for around 10% of pediatric insulinomas which are associated with <i>MEN1</i> syndrome. Furthermore, we describe a previously unreported, likely pathogenic variant in the <i>MEN1</i> gene. This report highlights the importance of the convergence of clinical, biochemical and molecular investigations in establishing a precise diagnosis, prognosis, and appropriate follow-up for pediatric patients with insulinoma.</p>","PeriodicalId":48805,"journal":{"name":"Journal of Clinical Research in Pediatric Endocrinology","volume":" ","pages":"226-230"},"PeriodicalIF":1.5,"publicationDate":"2025-05-27","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"10069354","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":4,"RegionCategory":"医学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}