Journal of Clinical Research in Pediatric Endocrinology最新文献_第4页

Diagnostic Challenge of Phenotypic Variability in COL2A1-Related Disorders: Four Novel Variants and Expanding the Clinical Spectrum.

IF 1.5 4区医学

Journal of Clinical Research in Pediatric Endocrinology Pub Date : 2025-01-24 DOI: 10.4274/jcrpe.galenos.2025.2024-9-7

Burcu Yeter, Yasemin Kendir Demirkol, Metin Eser, Ahmet Hamdi Akgülle, Betül Sözeri, Heves Kırmızıbekmez

{"title":"Diagnostic Challenge of Phenotypic Variability in COL2A1-Related Disorders: Four Novel Variants and Expanding the Clinical Spectrum.","authors":"Burcu Yeter, Yasemin Kendir Demirkol, Metin Eser, Ahmet Hamdi Akgülle, Betül Sözeri, Heves Kırmızıbekmez","doi":"10.4274/jcrpe.galenos.2025.2024-9-7","DOIUrl":"https://doi.org/10.4274/jcrpe.galenos.2025.2024-9-7","url":null,"abstract":"Objective: Heterozygous COL2A1 gene mutations are associated with type 2 collagenopathies, characterized by a wide, diverse, and overlapping clinical spectrum in related diseases. Our goal is to describe the clinical, radiological, and molecular findings of patients with COL2A1-related dysplasia and investigate the phenotype-genotype correlation. We also aim to emphasize the challenge of categorizing COL2A1-related diseases with similar clinical and radiological phenotypes.Methods: Six patients from five unrelated families presented with short-trunk dwarfism, delayed motor milestones, waddling gait, normal intelligence, and similar radiological features, including delayed epiphyseal ossification, epimetaphyseal changes, scoliosis, lordosis, and platyspondyly, underwent whole exome sequencing. Demographic, clinical, laboratory, and radiological data were retrospectively obtained from hospital records. Segregation analysis was conducted using Sanger sequencing in all patients.Results: Based on clinical, radiological, and molecular results, six patients were categorized into Kniest dysplasia, Spondyloepiphyseal dysplasia congenita, and Spondyloepimetaphyseal dysplasia Strudwick type. Four novel variants (c.1023+2T>C, p.Gly465Asp, p.Gly855Asp, p.Gly669Ala) were identified in the COL2A1 gene.Conclusion: Accurate classification of type 2 collagenopathies is essential for providing genetic counseling. Predicting extraskeletal manifestations and reducing morbidity through early diagnosis and treatment will significantly improve the quality of life for patients.","PeriodicalId":48805,"journal":{"name":"Journal of Clinical Research in Pediatric Endocrinology","volume":" ","pages":""},"PeriodicalIF":1.5,"publicationDate":"2025-01-24","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"143030199","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}

引用次数: 0

Serum Neudesin Levels in Patients with Congenital Hypothyroidism.

IF 1.5 4区医学

Journal of Clinical Research in Pediatric Endocrinology Pub Date : 2025-01-24 DOI: 10.4274/jcrpe.galenos.2025.2024-1-14

Semra Bahar, İlker Tolga Özgen, Yaşar Cesur, Caner Yıldız, Ömer Faruk Özer, Emel Hatun Aytaç Kaplan, Zümrüt Kocabey Sütçü

{"title":"Serum Neudesin Levels in Patients with Congenital Hypothyroidism.","authors":"Semra Bahar, İlker Tolga Özgen, Yaşar Cesur, Caner Yıldız, Ömer Faruk Özer, Emel Hatun Aytaç Kaplan, Zümrüt Kocabey Sütçü","doi":"10.4274/jcrpe.galenos.2025.2024-1-14","DOIUrl":"https://doi.org/10.4274/jcrpe.galenos.2025.2024-1-14","url":null,"abstract":"Objectives: Neudesin is a newly discovered protein mainly secreted from adipose tissue and the brain. It plays a role as a neurotrophic factor in the brain and a negative regulator of energy expenditure. Neurodevelopmental delay and cognitive dysfunction are common features in cases with congenital hypothyroidism (CH) without treatment. Considering neudesin's role in brain development and its contribution to the survival of mature neurons, any possible relationships between neudesin and thyroid hormone were evaluated.Methods: A total of 52 patients (32 patients with CH, 14 females and 18 males, aged 19± 7 days; 20 healthy subjects for the control group; 7 females and 13 males, aged 22± 8 days) were included in the study. All patients were evaluated for thyroid hormones and plasma neudesin levels. The basal neudesin levels between the patient and control groups and the patients' neudesin levels before and after l-thyroxine treatment were compared.Results: Regarding basal neudesin levels, there was no statistically significant difference (6.77±6.41 vs 7.93±7.04 ng/mL) (p=0.552) between the CH and control groups respectively. However, neudesin levels increased following one month of therapy (6.46±6.63 vs 12.85±18.74 ng/mL) in the CH group; this difference was statistically significant (p=0.019).Conclusion: Although there was no difference in basal neudesin levels between the patient and control groups, neudesin levels increased with treatment. However, more extensive and different studies are needed to understand the pathophysiological role of this relationship in the disease or the recovery process.","PeriodicalId":48805,"journal":{"name":"Journal of Clinical Research in Pediatric Endocrinology","volume":" ","pages":""},"PeriodicalIF":1.5,"publicationDate":"2025-01-24","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"143030201","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}

引用次数: 0

Current Practices in Hashimoto's Thyroiditis: Differences in Attitudes Between Pediatric and Adult Endocrinologists in Türkiye: A National Survey.

IF 1.5 4区医学

Journal of Clinical Research in Pediatric Endocrinology Pub Date : 2025-01-24 DOI: 10.4274/jcrpe.galenos.2025.2024-9-12

Gul Yesiltepe Mutlu, Bahar Ozcabi, Elif Sagsak, Aydilek Dagdeviren Cakır, Yavuz Ozer, Cengiz Kara

{"title":"Current Practices in Hashimoto's Thyroiditis: Differences in Attitudes Between Pediatric and Adult Endocrinologists in Türkiye: A National Survey.","authors":"Gul Yesiltepe Mutlu, Bahar Ozcabi, Elif Sagsak, Aydilek Dagdeviren Cakır, Yavuz Ozer, Cengiz Kara","doi":"10.4274/jcrpe.galenos.2025.2024-9-12","DOIUrl":"https://doi.org/10.4274/jcrpe.galenos.2025.2024-9-12","url":null,"abstract":"Introduction: This study aimed to assess the clinical practices and attitudes towards Hashimoto's thyroiditis (HT) among pediatric (PEs) and adult endocrinologists (AEs).Methods: The members of Turkish Society for Pediatric Endocrinology and Diabetes (n=502) and the Society of Endocrinology and Metabolism of Türkiye (n=910) were invited to participate in an online survey.Results: Of the respondents (n=168), 72.6%(n=122) were PEs and 27.3%(n=46) were AEs. The response rate was 24% among PEs, 5% among AEs. The mean age was 42.7 years. The use of \"only TPO-ab\" was preferred more frequently in AEs (28.3%) than in PEs (4.1%) (p=0.002). The rate of informing patient/parents at the time of diagnosis that HT lasts a lifetime was 91.3% among AEs and 62.3% among PEs (p=0.001). The rate of beginning treatment in euthyroid cases with goiter was significantly higher in PEs (26.2%) compared to AEs (4.3%) (p=0.017). Among AEs, 71.7% stated that they would never stop treatment, while among PEs, 33.6% did (p<0.001). Also, 44% of PEs stated that they would try to discontinue treatment in euthyroid at the end of puberty. The rate of those who were undecided about selenium supplementation was higher among PEs (41%) than among AEs (21.7%) (p=0.007). Although none of the PEs recommended gluten restriction, 7.5% of the AEs indicated that they would recommend gluten-free diet even without Celiac disease (p=0.015).Conclusion: There are significant differences encompassing aspects of diagnosis, treatment and nutritional supplementation in HT between PEs and AEs.","PeriodicalId":48805,"journal":{"name":"Journal of Clinical Research in Pediatric Endocrinology","volume":" ","pages":""},"PeriodicalIF":1.5,"publicationDate":"2025-01-24","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"143030198","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}

引用次数: 0

The Impact of the 2023 Turkey Earthquakes on Glycemic Control and Stress Levels in Children with Type 1 Diabetes: Single-center Experience.

IF 1.5 4区医学

Journal of Clinical Research in Pediatric Endocrinology Pub Date : 2025-01-24 DOI: 10.4274/jcrpe.galenos.2025.2024-10-17

Gül Trabzon, Seda Aybüke Sarı, Servet Yüce, Simge Bilaloğlu, Şeyma Demiray Güllü

{"title":"The Impact of the 2023 Turkey Earthquakes on Glycemic Control and Stress Levels in Children with Type 1 Diabetes: Single-center Experience.","authors":"Gül Trabzon, Seda Aybüke Sarı, Servet Yüce, Simge Bilaloğlu, Şeyma Demiray Güllü","doi":"10.4274/jcrpe.galenos.2025.2024-10-17","DOIUrl":"https://doi.org/10.4274/jcrpe.galenos.2025.2024-10-17","url":null,"abstract":"Objective: The 2023 earthquake in southeastern Turkey significantly impacted physical and emotional well-being in the region. This study evaluates the earthquake's effects on glycemic control, diabetes management, and stress levels in children with type 1 diabetes (T1D).Materials and methods: Seventy-nine pediatric T1D patients were assessed before and after the earthquake. Key parameters included glycated hemoglobin (HbA1c), insulin dosage, and psychological assessments using the Problem Areas in Diabetes Scale-Teen version (PAID-T) and the Post-Traumatic Stress Reaction Scale (PTSRS). Mixed-effects models were used to compare data across time points.Results: Of the 79 participants, 45.6% were male, with a mean age of 143.5 ± 45.0 months. The earthquake disrupted insulin therapy in 36.7% of patients and caused glycemic control issues in 77.2%. HbA1c levels dropped from 9.7 ± 2.7% pre-earthquake to 8.8 ± 2.2% in the first 3 months, rose to 10.6 ± 1.9% in the following 3 months, and stabilized at 9.7 ± 1.9% by the fourth period. A positive correlation was observed between parental stress and children's HbA1c (r = 0.423, p = 0.031). Psychological effects were notable, with 43% reporting distress, and 63.3% experiencing loss of close family or friends. PAID-T scores were 42.0 ± 14.5 for children and 53.7 ± 12.8 for parents, with PTSRS scores of 35.1 ± 17.4.Conclusions: The earthquake significantly affected glycemic control and psychological well-being in children with T1D. Fluctuations in HbA1c levels and the link between parental stress and glycemic outcomes emphasize the need for tailored interventions during crises.","PeriodicalId":48805,"journal":{"name":"Journal of Clinical Research in Pediatric Endocrinology","volume":" ","pages":""},"PeriodicalIF":1.5,"publicationDate":"2025-01-24","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"143029411","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}

引用次数: 0

ACTION Teens Global Survey-Türkiye Report: More Worry and Less Motivation for Adolescents Living with Obesity.

IF 1.5 4区医学

Journal of Clinical Research in Pediatric Endocrinology Pub Date : 2025-01-24 DOI: 10.4274/jcrpe.galenos.2025.2024-12-1

Abdullah Bereket, Neşe Perdahlı Fiş, Batu Gürser, Şükrü Hatun, Sibel Sakarya, Volkan Yumuk, Belma Haliloğlu

{"title":"ACTION Teens Global Survey-Türkiye Report: More Worry and Less Motivation for Adolescents Living with Obesity.","authors":"Abdullah Bereket, Neşe Perdahlı Fiş, Batu Gürser, Şükrü Hatun, Sibel Sakarya, Volkan Yumuk, Belma Haliloğlu","doi":"10.4274/jcrpe.galenos.2025.2024-12-1","DOIUrl":"https://doi.org/10.4274/jcrpe.galenos.2025.2024-12-1","url":null,"abstract":"Objective: ACTION Teens (NCT05013359) surveyed adolescents living with obesity (ALwO), their caregivers, and healthcare professionals (HCPs) in 10 countries to identify attitudes, perceptions, behaviors, and barriers preventing effective obesity care. This subanalysis identified key findings from Türkiye.Methods: In Türkiye, 700 ALwO (aged 12-<18 years), 700 caregivers, and 324 HCPs completed a cross-sectional survey (September-November 2021).Results: ALwO had poor mean World Health Organization-5 Well-Being Index (36.7) and Rosenberg Self-Esteem Scale (14.6) scores. Most ALwO (85%) were worried about their weight, and many ALwO (92%) and caregivers (96%) worried about weight affecting their/their child's future health. Additionally, many respondents agreed weight loss is completely the ALwO's responsibility (ALwO: 70%; caregivers: 47%; HCPs: 42%). Despite this, only 24% of ALwO reported being highly motivated to lose weight, although 59% reported a weight-loss attempt in the past year. Their most common weight-loss barrier was being unable to control hunger, according to ALwO (76%) and caregivers (73%). HCPs reported discussing weight with 42% of ALwO, on average, with 34% indicating insufficient time during appointments prevents them from discussing weight.Conclusion: Compared with the global ACTION Teens analysis, a greater proportion of ALwO in Türkiye worried about weight impacting future health (92% vs 85%), yet a similar proportion had made a recent weight-loss attempt (59% vs 58%), perhaps due to lower motivation (24% vs 45%). Our results suggest ALwO in Türkiye require greater weight-management support, particularly support with controlling hunger; therefore, measures should be taken to reduce HCPs' time constraints.","PeriodicalId":48805,"journal":{"name":"Journal of Clinical Research in Pediatric Endocrinology","volume":" ","pages":""},"PeriodicalIF":1.5,"publicationDate":"2025-01-24","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"143030195","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}

引用次数: 0

Cabergoline Induced Pathological Gambling in an Adolescent with Prolactinoma.

IF 1.5 4区医学

Journal of Clinical Research in Pediatric Endocrinology Pub Date : 2025-01-24 DOI: 10.4274/jcrpe.galenos.2025.2024-10-11

Ummahan Tercan, Ezgi Sarban, Melek Yildiz, Ozlem Nida Erbasi, Mine Ozkan, Aslı Derya Kardelen, Sukran Poyrazoglu, Firdevs Bas, Feyza Darendeliler

{"title":"Cabergoline Induced Pathological Gambling in an Adolescent with Prolactinoma.","authors":"Ummahan Tercan, Ezgi Sarban, Melek Yildiz, Ozlem Nida Erbasi, Mine Ozkan, Aslı Derya Kardelen, Sukran Poyrazoglu, Firdevs Bas, Feyza Darendeliler","doi":"10.4274/jcrpe.galenos.2025.2024-10-11","DOIUrl":"https://doi.org/10.4274/jcrpe.galenos.2025.2024-10-11","url":null,"abstract":"Prolactinomas are the most common hormone-secreting pituitary adenomas in adolescents. Dopamine agonists (DA) are used as first-line medical treatment. DAs are associated with an array of physical side effects; however, impulse control disorders (ICDs), such as pathological gambling (PG), have also been reported in adults. A 15.7-year-old male with no psychiatric history was referred for headache and elevated prolactin (PRL) levels. He was diagnosed with PRL-secreting pituitary macroadenoma After initiating DA therapy with cabergoline (CBG), normalization of PRL levels and a considerable decrease in tumor size were observed. Central hypothyroidism and adrenal insufficiency present at the time of diagnosis were resolved. CBG dose was adjusted according to the test results over time. However, after two and a half years of therapy (while using 1.5 mg CBG per week), the patient developed PG, incurring debts and affecting familial relationships. Upon reducing the CBG dosage, PG symptoms ceased. This is the first case report of an adolescent with a prolactin-secreting macroadenoma who developed PG as a side effect of CBG treatment. This case highlights the need for careful monitoring of psychiatric symptoms in pediatric patients with prolactinoma on DAs.","PeriodicalId":48805,"journal":{"name":"Journal of Clinical Research in Pediatric Endocrinology","volume":" ","pages":""},"PeriodicalIF":1.5,"publicationDate":"2025-01-24","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"143030196","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}

引用次数: 0

Can Dietary Acid Load in Obese Adolescents Interfere with Cardiometabolic Risk, Psychological Resilience and Sleep Quality?

IF 1.5 4区医学

Journal of Clinical Research in Pediatric Endocrinology Pub Date : 2025-01-24 DOI: 10.4274/jcrpe.galenos.2025.2024-12-19

Nadia Raci Marques Pereira, Andreia Bezerra, Sergio Tufik, Helena Hachul

引用次数: 0

Interpretation of Neonatal Adrenal Function Results and Adrenal Function Results in Critical Illness 新生儿肾上腺功能结果和危重症肾上腺功能结果的解释。

IF 1.5 4区医学

Journal of Clinical Research in Pediatric Endocrinology Pub Date : 2025-01-10 Epub Date: 2024-12-23 DOI: 10.4274/jcrpe.galenos.2024.2024-6-1-S

Nesibe Akyürek, Beray Selver Eklioğlu, Çiğdem Binay