Burcu Yeter, Yasemin Kendir Demirkol, Metin Eser, Ahmet Hamdi Akgülle, Betül Sözeri, Heves Kırmızıbekmez
{"title":"Diagnostic Challenge of Phenotypic Variability in <i>COL2A1</i>-related Disorders: Four Novel Variants That Expand 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":"10.4274/jcrpe.galenos.2025.2024-9-7","url":null,"abstract":"<p><strong>Objective: </strong>Heterozygous <i>COL2A1</i> 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 <i>COL2A1</i>-related dysplasia and investigate the phenotype-genotype correlation. We also highlight the challenge of categorizing <i>COL2A1</i>-related diseases with similar clinical and radiological phenotypes.</p><p><strong>Methods: </strong>Six patients from five unrelated families presented with disproportionate short stature.delayed motor milestones, waddling gait, normal intelligence, and similar radiological features, including delayed epiphyseal ossification, epimetaphyseal changes, scoliosis, lordosis, and platyspondyly. All 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.</p><p><strong>Results: </strong>Based on clinical, radiological, and molecular results, the 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 <i>COL2A1</i> gene.</p><p><strong>Conclusion: </strong>Accurate classification of type 2 collagenopathies is vital to provide appropriate genetic counseling. Predicting extraskeletal manifestations and reducing morbidity through early diagnosis and treatment will significantly improve the quality of life for patients.</p>","PeriodicalId":48805,"journal":{"name":"Journal of Clinical Research in Pediatric Endocrinology","volume":" ","pages":"297-306"},"PeriodicalIF":1.5,"publicationDate":"2025-08-22","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC12372628/pdf/","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":"OA","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}
{"title":"Machine Learning-driven Identification of the Honeymoon Phase in Pediatric Type 1 Diabetes and Optimizing Insulin Management","authors":"Satheeskumar R","doi":"10.4274/jcrpe.galenos.2025.2024-8-13","DOIUrl":"10.4274/jcrpe.galenos.2025.2024-8-13","url":null,"abstract":"<p><strong>Objective: </strong>The honeymoon phase in type 1 diabetes (T1D) represents a temporary improvement in glycemic control but may complicate insulin management. The aim was to develop and validate a machine learning (ML)-driven method for accurately detecting this phase to optimize insulin therapy and prevent adverse outcomes.</p><p><strong>Methods: </strong>Data from pediatric T1D patients aged 6-17 years, including continuous glucose monitoring data, glucose management indicator (GMI) reports, hemoglobin A1c (HbA1c) values, and patient medical history, were used to train ML models including long short-term memory (LSTM) networks, transformer models, random forest, and gradient boosting machines (GBMs). These were designed to analyze glucose trends and identify the honeymoon phase in T1D patients.</p><p><strong>Results: </strong>The transformer model achieved the highest accuracy at 91%, followed by GBMs at 89%, LSTM at 88%, and random forest at 87%. Key features, such as glucose variability, insulin adjustments, GMI values, and HbA1c levels were critical to model performance. Accurate identification of the honeymoon phase enabled optimized insulin adjustments, enhancing glucose control and reducing hypoglycemia risk.</p><p><strong>Conclusion: </strong>The ML-driven approach provides a robust method for detecting the honeymoon phase in T1D patients, demonstrating potential for improved personalized insulin management. The findings suggest significant benefits in patient outcomes, with future research focused on further validation and clinical integration.</p>","PeriodicalId":48805,"journal":{"name":"Journal of Clinical Research in Pediatric Endocrinology","volume":" ","pages":"278-287"},"PeriodicalIF":1.5,"publicationDate":"2025-08-22","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC12372630/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"143030200","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":"Diagnosis of Lymphocytic Infundibuloneurohypophysitis After Positive Anti-rabphilin-3A Antibody Test in an 8-year-old Boy with Early-onset Central Diabetes Insipidus","authors":"Yukino Shoji, Yuki Naruse, Naoko Iwata, Haruki Fujisawa, Atsushi Suzuki, Yoshihisa Sugimura, Masato Mori, Ryugo Hiramoto","doi":"10.4274/jcrpe.galenos.2023.2023-5-7","DOIUrl":"10.4274/jcrpe.galenos.2023.2023-5-7","url":null,"abstract":"<p><p>Childhood-onset lymphocytic infundibuloneurohypophysitis (LINH) has rarely been reported. Pathological evaluation via pituitary biopsy is necessary for a definitive diagnosis of LINH. However, pituitary biopsy is a highly invasive procedure. Recently, anti-rabphilin-3A antibody (RPH3A-Ab) has been reported as a promising diagnostic marker for LINH in adults but.there are few reports of this association in the pediatric population. We report the case of an 8-year-old boy with central diabetes insipidus (CDI) who was diagnosed clinically with LINH, based on RPH3A-Ab positivity. He was initially diagnosed with CDI using a water deprivation test combined with desmopressin administration. Serum and cerebrospinal fluid tumor markers were negative, and T1-weighted magnetic resonance imaging (MRI) revealed the absence of high signal intensity in the posterior pituitary gland and an enlarged pituitary stalk. Anterior pituitary function tests revealed no abnormalities. No pituitary biopsy was performed because of its invasive nature, and desmopressin treatment was initiated. Three months after the diagnosis of CDI, the patient tested positive for RPH3A-Ab. MRI performed nine months after CDI diagnosis revealed amelioration of the pituitary stalk enlargement, and this clinical course corroborated our diagnosis of LINH. RPH3A-Ab may be useful as an early diagnostic tool for LINH in the pediatric population.</p>","PeriodicalId":48805,"journal":{"name":"Journal of Clinical Research in Pediatric Endocrinology","volume":" ","pages":"332-336"},"PeriodicalIF":1.5,"publicationDate":"2025-08-22","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC12372633/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"41174208","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":"Frequency of Polycystic Ovary Syndrome and “Being at Risk for Polycystic Ovary Syndrome” in Obese Adolescent Girls in Light of Current Definitions","authors":"Özlem Yüksel, Fatma Güliz Atmaca, Fatma Dursun, Gülcan Seymen, Pınar Atla, Esma Ebru Altun, Ayşe Yaşar, Heves Kırmızıbekmez","doi":"10.4274/jcrpe.galenos.2025.2024-7-31","DOIUrl":"10.4274/jcrpe.galenos.2025.2024-7-31","url":null,"abstract":"<p><strong>Objective: </strong>Obesity is associated with an increased risk of polycystic ovary syndrome (PCOS). It can be difficult to differentiate between PCOS and physiological oligomenorrhoea/anovulation in adolescent girls. To date, studies of the prevalence of PCOS in adolescents have predominantly used diagnostic criteria validated primarily in adult women. The aim of this study was to investigate the prevalence of PCOS in obese girls using the current diagnostic criteria for adolescents.</p><p><strong>Methods: </strong>The diagnosis of PCOS was based on the presence of menstrual irregularity, clinical hyperandrogenism and hyperandrogenemia and the exclusion of other causes. Patients with one or two of these conditions were classified as “at risk for PCOS”. The control group consisted of patients with obesity alone but no other comorbidity.</p><p><strong>Results: </strong>A total of 421 patients were included in the study. The number of patients meeting the definition of PCOS was 35, representing a prevalence of 8.3%, while 200 patients (46%) were defined as “at risk for PCOS”. The diagnostic value of the free androgen index (FAI) was found to be adequate, while other tests were poor. The cut-off values were 11 for FAI and 0.44 ng/mL for total testosterone, with optimal sensitivity and specificity.</p><p><strong>Conclusion: </strong>Despite the increasing number of studies, the diagnosis and management of PCOS in adolescents remains challenging. While efforts should be made to avoid overdiagnosis, it is also important to recognize that many more patients may be at risk of developing PCOS.</p>","PeriodicalId":48805,"journal":{"name":"Journal of Clinical Research in Pediatric Endocrinology","volume":" ","pages":"318-325"},"PeriodicalIF":1.5,"publicationDate":"2025-08-22","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC12372637/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"143069000","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}
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":"10.4274/jcrpe.galenos.2025.2024-1-14","url":null,"abstract":"<p><strong>Objective: </strong>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. Given the role of neudesin in brain development and its contribution to the survival of mature neurons, the relationship between neudesin and thyroid hormone was evaluated in babies diagnosed with CH.</p><p><strong>Methods: </strong>Babies aged between 2-4 weeks and diagnosed with CH and healthy controls of similar age were included. 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.</p><p><strong>Results: </strong>Fifty-two babies [32 with CH, 14 (44%) female, aged 19±7 days and 20 healthy controls, 7 (35%) female, aged 22±8 days] were included. There was no significant difference in baseline neudesin between the CH and control groups (6.77±6.41 vs. 7.93±7.04 ng/mL, respectively; p=0.552). However, neudesin levels increased significantly following one month of therapy in the CH group [median: 3.93 (minimum: 0.31, maximum: 30.06) vs. median: 6.15 (minimum: 2.17, maximum: 70.05) ng/mL, p=0.019].</p><p><strong>Conclusion: </strong>Although there was no difference in baseline neudesin levels between the patient and control groups, neudesin levels increased after short-term treatment. Larger prospective studies are needed to understand the pathophysiological role of neudesin in untreated and treated early CH.</p>","PeriodicalId":48805,"journal":{"name":"Journal of Clinical Research in Pediatric Endocrinology","volume":" ","pages":"263-268"},"PeriodicalIF":1.5,"publicationDate":"2025-08-22","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC12372643/pdf/","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":"OA","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}
Göksel Tuzcu, Reyhan Deveci Sevim, Mustafa Gök, Ayşe Anık, Ahmet Anık
{"title":"Normative Values for Thyroid Volume and Tracheal Index in Healthy Turkish Newborns in an Iodine Sufficient Region","authors":"Göksel Tuzcu, Reyhan Deveci Sevim, Mustafa Gök, Ayşe Anık, Ahmet Anık","doi":"10.4274/jcrpe.galenos.2024.2024-7-20","DOIUrl":"10.4274/jcrpe.galenos.2024.2024-7-20","url":null,"abstract":"<p><strong>Objective: </strong>This study aimed to determine the normal values of thyroid volume and tracheal index in healthy, term newborns born in an iodine-sufficient population. Moreover, the usability of a handheld device for assessing tracheal index was assessed.</p><p><strong>Methods: </strong>Thyroid imaging was performed at 0-2 days and 15-30 days using handheld and portable ultrasound (US) devices. Thyroid volume and tracheal index were calculated using standard formulae.</p><p><strong>Results: </strong>A total of 144 healthy, term newborns with a mean birth weight 3230 g were enrolled. The normal thyroid volume for the entire population was 0.66±0.25 mL at 0-2 days, which significantly increased to 1.12±0.33 mL at 15-30 days (p<0.01). There were no significant differences in thyroid volume between genders in either age group (p=0.246 and p=0.879). Thyroid volume correlated with birth weight, length, and head circumference, with the strongest correlation being with birth weight (r=0.404, p<0.001; r=0.252, p=0.002; r=0.223, p=0.007, respectively). The tracheal index at 0-2 days was 1.84±0.30 in girls, 1.82±0.27 in boys, and 1.83±0.29 overall. At 15-30 days, it was 1.99±0.23 in girls, 2.00±0.28 in boys, and 1.99±0.25 overall. Similar to thyroid volume, the tracheal index increased significantly with age (p<0.01), with no significant gender differences in either age group (p=0.593 and p=0.886). Thyroid volume and tracheal index were moderately correlated in both measurements (rho=0.538, p<0.01). Measurements of the trachea, and thyroid lobe widths using portable and handheld US devices were positively correlated (r=0.449, p<0.01; r=0.638, p<0.01; r=0.497, p<0.01). There was also a correlation between tracheal index measurements using both devices at both the first and second measurements.</p><p><strong>Conclusion: </strong>This study provides normative data for thyroid volumes and tracheal index in newborns from an iodine-sufficient population. The tracheal index may be used to estimate thyroid size when volume calculation is not feasible. Handheld US devices are effective for this assessment.</p>","PeriodicalId":48805,"journal":{"name":"Journal of Clinical Research in Pediatric Endocrinology","volume":" ","pages":"256-262"},"PeriodicalIF":1.5,"publicationDate":"2025-08-22","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC12372634/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"142630672","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}
Gül Yeşiltepe Mutlu, Bahar Özcabı, Elif Sağsak, Aydilek Dağdeviren Çakır, Yavuz Özer, Cengiz Kara
{"title":"Current Practices in Hashimoto’s Thyroiditis: Differences in Attitudes Between Pediatric and Adult Endocrinologists in Türkiye: A National Survey","authors":"Gül Yeşiltepe Mutlu, Bahar Özcabı, Elif Sağsak, Aydilek Dağdeviren Çakır, Yavuz Özer, Cengiz Kara","doi":"10.4274/jcrpe.galenos.2025.2024-9-12","DOIUrl":"10.4274/jcrpe.galenos.2025.2024-9-12","url":null,"abstract":"<p><strong>Objective: </strong>This study aimed to assess the clinical practices and attitudes towards Hashimoto’s thyroiditis (HT) among pediatric (PEs) and adult endocrinologists (AEs).</p><p><strong>Methods: </strong>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.</p><p><strong>Results: </strong>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 and only 5% among AEs. Respondents median age was 41 years. The use of “only thyroid peroxidase autoantibodies” was preferred more frequently by AEs (28.3%) than by 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% for AEs and 62.3% for 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). Moreover, 44% of PEs stated that they would attempt treatment discontinuation in euthyroid patients at the end of puberty. The rate of those who were undecided about selenium supplementation was higher amongst PEs (41%) than among AEs (21.7%) (p=0.007). Although none of the PEs recommended gluten restriction, 6.5% of the AEs indicated that they would recommend gluten-free diet even without Celiac disease (p=0.015).</p><p><strong>Conclusion: </strong>There are significant differences between PEs and AEs encompassing aspects of diagnosis, treatment and nutritional supplementation in HT.</p>","PeriodicalId":48805,"journal":{"name":"Journal of Clinical Research in Pediatric Endocrinology","volume":" ","pages":"269-277"},"PeriodicalIF":1.5,"publicationDate":"2025-08-22","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC12372645/pdf/","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":"OA","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}
{"title":"A Challenging Case of Ectopic Adrenocorticotropin Hormone Syndrome with Bronchial Carcinoid and Literature Review","authors":"Sema Nilay Abseyi, Zeynep Şıklar, Elif Özsu, Ayten Kayı Cangır, Emel Cabi Ünal, Nurdan Taçyıldız, Zehra Aycan, Merih Berberoğlu","doi":"10.4274/jcrpe.galenos.2023.2023-7-6","DOIUrl":"10.4274/jcrpe.galenos.2023.2023-7-6","url":null,"abstract":"<p><p>We report an adolescent boy diagnosed with ectopic adrenocorticotropin hormone syndrome (EAS) due to an atypical bronchial carcinoid. The patient was managed by a multidisciplinary team. He underwent surgery and subsequent chemotherapy and radiotherapy treatments. The patient is still under our follow-up. At the time of writing, eighteen pediatric and adolescent patients with EAS because of bronchial carcinoid tumors have been reported. EAS due to bronchial carcinoids is very rare in children and adolescents. Careful diagnostic evaluation and rapid treatment should be started immediately. Although complete remission is possible, atypical carcinoids have a more aggressive nature. A multidisciplinary approach and follow-up is recommended in terms of quality of life and survival.</p>","PeriodicalId":48805,"journal":{"name":"Journal of Clinical Research in Pediatric Endocrinology","volume":" ","pages":"352-358"},"PeriodicalIF":1.5,"publicationDate":"2025-08-22","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC12372642/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"71523016","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":"The Impact of the 2023 Türkiye 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":"10.4274/jcrpe.galenos.2025.2024-10-17","url":null,"abstract":"<p><strong>Objective: </strong>The 2023 earthquakes in southeastern Türkiye significantly impacted physical and emotional well-being in the region. This study evaluated the effect of the earthquakes on glycemic control, diabetes management, and stress levels in children with type 1 diabetes mellitus (T1DM).</p><p><strong>Methods: </strong>Pediatric T1DM 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 (PAID-T) version and the Post-Traumatic Stress Reaction Scale (PTSRS). Mixed-effects models were used to compare data across time points.</p><p><strong>Results: </strong>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 three months, rose to 10.6±1.9% in the following three 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. The mean PAID-T scores were 42.0±14.5 for children and 53.7±12.8 for parents, indicating a moderate to high level of diabetes-related distress in both groups. Although no validated cut-off score exists for the PAID-T, higher values reflect a greater perceived burden. The mean PTSRS score was 35.1±17.4, which corresponds to a moderate level of post-traumatic stress reaction based on established cut-off values 35.1±17.4.</p><p><strong>Conclusion: </strong>The earthquake significantly affected glycemic control and psychological well-being in children with T1DM. Fluctuations in HbA1c levels and the link between parental stress and glycemic outcomes suggest a need for tailored interventions during crises.</p>","PeriodicalId":48805,"journal":{"name":"Journal of Clinical Research in Pediatric Endocrinology","volume":" ","pages":"288-296"},"PeriodicalIF":1.5,"publicationDate":"2025-08-22","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC12372632/pdf/","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":"OA","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}
{"title":"Early-onset Chronic Keratitis as the First Presenting Component of Autoimmune Polyendocrine Syndrome Type 1: A Case Report and Review of the Literature","authors":"Enver Şimşek, Tülay Şimşek, Oğuz Çilingir","doi":"10.4274/jcrpe.galenos.2023.2023-9-17","DOIUrl":"10.4274/jcrpe.galenos.2023.2023-9-17","url":null,"abstract":"<p><p>Autoimmune polyendocrine syndrome type 1 (APS-1), also referred to as autoimmune polyendocrinopathy-candidiasis-ectodermal dystrophy, is a rare monogenic autosomal recessive autoimmune disease. It is caused by mutations in the autoimmune regulator (<i>AIRE</i>) gene. APS-1 is diagnosed clinically by the presence of two of the three major components: chronic mucocutaneous candidiasis, hypoparathyroidism (HPT), and primary adrenocortical insufficiency. A 3.3-year-old girl presented with a carpopedal spasm to the pediatric emergency clinic. She had a history of recurrent keratitis, and chronic candidiasis, manifesting as urinary tract infections and oral thrush. HPT was diagnosed based on low serum concentrations of calcium and parathyroid hormone and elevated serum concentrations of phosphate, and treatment with calcium and calcitriol supplementation was started. Genetic testing identified a homozygous nonsense mutation, c.769C>T (p.R257X), in exon 6 of <i>AIRE</i> which has been reported previously. At the age of 5.6 years, she presented with adrenal crisis, and treatment with hydrocortisone and fludrocortisone was started. This case demonstrates that unexplained chronic keratitis in children may be the first and most severe component of this syndrome. The classic triad of APS-1 may also appear in the first decade of life.</p>","PeriodicalId":48805,"journal":{"name":"Journal of Clinical Research in Pediatric Endocrinology","volume":" ","pages":"359-364"},"PeriodicalIF":1.5,"publicationDate":"2025-08-22","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC12372638/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"138804119","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}