Journal of Clinical Research in Pediatric Endocrinology最新文献

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Anorexia Nervosa Emerging after Swyer Syndrome Diagnosis Swyer综合征诊断后出现神经性厌食症。
IF 1.9 4区 医学
Journal of Clinical Research in Pediatric Endocrinology Pub Date : 2026-09-08 Epub Date: 2026-05-22 DOI: 10.4274/jcrpe.galenos.2026.2026-4-6
Demet Aygün Arı, Semra Çetinkaya
{"title":"Anorexia Nervosa Emerging after Swyer Syndrome Diagnosis","authors":"Demet Aygün Arı, Semra Çetinkaya","doi":"10.4274/jcrpe.galenos.2026.2026-4-6","DOIUrl":"10.4274/jcrpe.galenos.2026.2026-4-6","url":null,"abstract":"","PeriodicalId":48805,"journal":{"name":"Journal of Clinical Research in Pediatric Endocrinology","volume":" ","pages":"554-555"},"PeriodicalIF":1.9,"publicationDate":"2026-09-08","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC13554931/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"147989723","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}
引用次数: 0
A Case of Carney Complex with Pontine Glioma 卡尼复合体合并脑桥胶质瘤1例。
IF 1.9 4区 医学
Journal of Clinical Research in Pediatric Endocrinology Pub Date : 2026-09-08 Epub Date: 2025-08-18 DOI: 10.4274/jcrpe.galenos.2025.2025-12-22
Gülümay Vural Topaktaş, Emrullah Arslan, Tayfun Çinleti, Özlem Anlaş, Ebru Pala, Benay Turan, Eren Er, Bumin Nuri Dündar
{"title":"A Case of Carney Complex with Pontine Glioma","authors":"Gülümay Vural Topaktaş, Emrullah Arslan, Tayfun Çinleti, Özlem Anlaş, Ebru Pala, Benay Turan, Eren Er, Bumin Nuri Dündar","doi":"10.4274/jcrpe.galenos.2025.2025-12-22","DOIUrl":"10.4274/jcrpe.galenos.2025.2025-12-22","url":null,"abstract":"<p><p>Carney complex (CNC) is a rare autosomal dominant syndrome characterized by skin pigmentation abnormalities, endocrine tumors, and cardiac myxomas. This report presents an 11-year-old girl with a history of pontine glioma treated with chemotherapy and radiotherapy at 2.5 years of age, who presented with weight gain and short stature, along with syndromic features (multiple nevi around the mouth and nose, four café-au-lait spots, and bilateral clinodactyly of the fourth toes) identified during physical examination. Genetic testing revealed a novel pathogenic <i>PRKAR1A</i> variant, confirming the diagnosis of CNC. The patient was diagnosed with Cushing’s syndrome due to unsuppressed cortisol levels observed in a high-dose dexamethasone suppression test. Pathological evaluation following unilateral adrenalectomy confirmed the presence of primary pigmented nodular adrenocortical disease. This case highlights the importance of recognizing the atypical course of CNC to prevent delays in diagnosis and treatment.</p>","PeriodicalId":48805,"journal":{"name":"Journal of Clinical Research in Pediatric Endocrinology","volume":" ","pages":"527-532"},"PeriodicalIF":1.9,"publicationDate":"2026-09-08","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC13554926/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"144876314","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}
引用次数: 0
Subclinical Hypothyroidism in Children: Natural History, Risk Factors, and Outcomes 儿童亚临床甲状腺功能减退:自然史、危险因素和结局。
IF 1.9 4区 医学
Journal of Clinical Research in Pediatric Endocrinology Pub Date : 2026-09-08 Epub Date: 2026-03-31 DOI: 10.4274/jcrpe.galenos.2026.2025-9-27
Nur Şeyma Zengin, Elif Sağsak, Seda Geylani Güleç
{"title":"Subclinical Hypothyroidism in Children: Natural History, Risk Factors, and Outcomes","authors":"Nur Şeyma Zengin, Elif Sağsak, Seda Geylani Güleç","doi":"10.4274/jcrpe.galenos.2026.2025-9-27","DOIUrl":"10.4274/jcrpe.galenos.2026.2025-9-27","url":null,"abstract":"<p><strong>Objective: </strong>Subclinical hypothyroidism (SH) is defined as elevated thyroid-stimulating hormone (TSH) with normal thyroid hormone levels and typically presents without specific symptoms in children. Although treatment criteria exist, predictors of progression and treatment need remain uncertain.</p><p><strong>Methods: </strong>To evaluate the natural course of mild SH, identify clinical conditions associated with elevated TSH, determine predictors of progression requiring levothyroxine, and assess growth outcomes. Records of children (3 months-18 years) with mild SH (TSH 5-10 mIU/L on ≥2 measurements) and ≥6 months of follow-up were retrospectively reviewed. Demographic, biochemical, anthropometric, etiological, and imaging data were analyzed. Children were categorized as idiopathic or as having associated clinical factors (autoimmune thyroiditis, iodine imbalance, obesity, or medication use). Outcomes were classified as euthyroid, persistent SH, or requiring treatment.</p><p><strong>Results: </strong>During follow-up, 45 of the study cohort of 111 children (40.5%) became euthyroid, 49 (44.2%) remained subclinically hypothyroid, and 17 (15.3%) required levothyroxine. Idiopathic cases showed the most favorable course, with only 8.6% requiring therapy. Hashimoto’s thyroiditis (HT) was the strongest predictor of progression (42.1% vs. 9.8% in non-HT). A baseline TSH>7.5 mIU/L increased treatment likelihood by ~3.5-fold. Growth parameters remained within normal limits, with no deterioration in untreated children.</p><p><strong>Conclusion: </strong>Mild pediatric SH is generally benign and self-limiting, particularly in idiopathic cases. HT and higher baseline TSH levels are key predictors of progression, while growth remains stable. Management should be individualized based on underlying conditions, TSH severity, and autoimmune status.</p>","PeriodicalId":48805,"journal":{"name":"Journal of Clinical Research in Pediatric Endocrinology","volume":" ","pages":"498-507"},"PeriodicalIF":1.9,"publicationDate":"2026-09-08","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC13554925/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"147582789","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}
引用次数: 0
BMI-SDS Changes During GnRHa Therapy in 150 Girls with Idiopathic Central Precocious Puberty: Follow-up Through Final Height 150例特发性中枢性性性早熟女孩GnRHa治疗期间BMI-SDS的变化:随访至最终身高。
IF 1.9 4区 医学
Journal of Clinical Research in Pediatric Endocrinology Pub Date : 2026-09-08 Epub Date: 2026-04-24 DOI: 10.4274/jcrpe.galenos.2026.2026-3-6
Didem Helvacıoğlu, Büşra Gürpınar Tosun, Sefa Öğe, Serap Turan, Tülay Güran, Belma Haliloğlu, Zehra Yavaş Abalı, Abdullah Bereket
{"title":"BMI-SDS Changes During GnRHa Therapy in 150 Girls with Idiopathic Central Precocious Puberty: Follow-up Through Final Height","authors":"Didem Helvacıoğlu, Büşra Gürpınar Tosun, Sefa Öğe, Serap Turan, Tülay Güran, Belma Haliloğlu, Zehra Yavaş Abalı, Abdullah Bereket","doi":"10.4274/jcrpe.galenos.2026.2026-3-6","DOIUrl":"10.4274/jcrpe.galenos.2026.2026-3-6","url":null,"abstract":"<p><strong>Objective: </strong>To evaluate longitudinal changes in body mass index-standard deviation score (BMI-SDS) in girls with central precocious puberty (CPP) treated with gonadotropin-releasing hormone analogues from treatment initiation to final adult height.</p><p><strong>Methods: </strong>This retrospective study included 150 girls with idiopathic CPP treated with leuprolide acetate and followed to final adult height. BMI-SDS was assessed at treatment initiation, at 1 year of therapy, at treatment completion, and at final adult height. Patients were categorized according to BMI-SDS at the time of diagnosis as underweight, normal weight, overweight (OW), or obese (OB). BMI-SDS was evaluated at predefined time points and examined within baseline weight groups, and transitions between BMI-SDS categories were analyzed across the follow-up period. In addition to baseline weight status, participants were categorized as small for gestational age (SGA) or appropriate for GA (AGA) based on birth weight for gestational age.</p><p><strong>Results: </strong>In normal-weight girls, BMI-SDS increased significantly during the first treatment year and then declined toward final height, with no difference between baseline and final height. BMI-SDS remained stable in those OW or OB at treatment initiation. BMI-category distribution changed over follow-up (overall p=0.014), OW+OB prevalence increased during treatment (48.6%→56.6%) and decreased by final height (45.3%) (baseline vs final p=0.533). By final height, OB increased (p=0.0076) and OW decreased (p=0.006), while normal-weight prevalence did not differ from baseline (p=0.098). BMI-SDS was lower in SGA than AGA at baseline, year 1, and treatment completion (p=0.04, p=0.04, and p=0.01, respectively), but not at final adult height (p=0.6). In multivariable analysis, baseline BMI-SDS was inversely related to ΔBMI-SDS (treatment end-baseline) (β=-0.174, 95% confidence interval -0.291 to -0.057; p=0.004).</p><p><strong>Conclusion: </strong>In this large cohort of girls with idiopathic CPP followed through final adult height, BMI-SDS showed no sustained increase at final height across baseline weight groups, and the SGA-AGA differences observed earlier were not maintained. Baseline BMI-SDS was the key independent determinant of ΔBMI-SDS (treatment end-baseline), with lower baseline values predicting greater increases.</p>","PeriodicalId":48805,"journal":{"name":"Journal of Clinical Research in Pediatric Endocrinology","volume":" ","pages":"479-487"},"PeriodicalIF":1.9,"publicationDate":"2026-09-08","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC13554938/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"147786594","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}
引用次数: 0
Myocardial Performance Index and Carotid Intima-Media Thickness in Children with Metabolically Healthy and Metabolically Unhealthy Obesity 代谢健康和代谢不健康肥胖儿童的心肌功能指数和颈动脉内膜-中膜厚度
IF 1.9 4区 医学
Journal of Clinical Research in Pediatric Endocrinology Pub Date : 2026-09-08 Epub Date: 2025-07-28 DOI: 10.4274/jcrpe.galenos.2025.2025-5-4
Nazlican Civilibal Tang, Kazım Oztarhan, Helen Bornaun, Sumeyra Dogan, Ata Mert Civilibal
{"title":"Myocardial Performance Index and Carotid Intima-Media Thickness in Children with Metabolically Healthy and Metabolically Unhealthy Obesity","authors":"Nazlican Civilibal Tang, Kazım Oztarhan, Helen Bornaun, Sumeyra Dogan, Ata Mert Civilibal","doi":"10.4274/jcrpe.galenos.2025.2025-5-4","DOIUrl":"10.4274/jcrpe.galenos.2025.2025-5-4","url":null,"abstract":"<p><strong>Objective: </strong>To compare the myocardial performance index (MPI) and carotid intima-media thickness (cIMT) of children who are metabolically healthy obese (MHO) and metabolically unhealthy obese (MUO) with children without obesity.</p><p><strong>Methods: </strong>This study included obese patients between 6 and 17 years of age and age- and gender-matched healthy children. Two groups of obese patients were investigated: MUO and MHO.</p><p><strong>Results: </strong>There were 62 obese (MUO=30; MHO=32) and 30 healthy controls included. Compared to controls, the MPI score and cIMT of both obese groups were significantly larger (p=0.004 and p=0.003, respectively). However, there was no significant difference in MPI and cIMT between the MUO and MHO groups. Moreover, there were independent associations between higher MPI and body mass index-standard deviation score (BMI-SDS) (β=0.312, p=0.002) and between higher cIMT and waist circumference-SDS (WC-SDS) (β=0.371, p=0.003).</p><p><strong>Conclusion: </strong>The primary outcome of the study indicated that while both MPI and cIMT values were elevated in obese children compared to non-obese controls, there was no significant difference between MUO and MHO groups. This suggests that obesity itself, irrespective of metabolic health, is associated with increased cardiovascular risks. BMI-SDS and WC-SDS were useful markers for identifying children at cardiovascular risk in this cohort.</p>","PeriodicalId":48805,"journal":{"name":"Journal of Clinical Research in Pediatric Endocrinology","volume":" ","pages":"402-409"},"PeriodicalIF":1.9,"publicationDate":"2026-09-08","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC13554946/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"144734485","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}
引用次数: 0
Early Childhood Obesity: Multifactorial Influences with a Prominent Familial Contribution 儿童早期肥胖:多因素影响与显著的家族贡献。
IF 1.9 4区 医学
Journal of Clinical Research in Pediatric Endocrinology Pub Date : 2026-09-08 Epub Date: 2026-03-16 DOI: 10.4274/jcrpe.galenos.2026.2025-12-23
İsmail Hakkı Akbeyaz, Yasemin Akın, Berkin Berk Akbeyaz, Saygın Abalı
{"title":"Early Childhood Obesity: Multifactorial Influences with a Prominent Familial Contribution","authors":"İsmail Hakkı Akbeyaz, Yasemin Akın, Berkin Berk Akbeyaz, Saygın Abalı","doi":"10.4274/jcrpe.galenos.2026.2025-12-23","DOIUrl":"10.4274/jcrpe.galenos.2026.2025-12-23","url":null,"abstract":"<p><strong>Objective: </strong>Early childhood obesity is an increasing public health problem with long-term consequences. Identifying risk factors is essential for effective preventative strategies. To evaluate prenatal, perinatal, and postnatal influences including: breastfeeding and nutritional practices; lifestyle and daily habits; household, sociocultural, and economic conditions; and parental anthropometric characteristics to better elucidate the determinants of obesity in early childhood.</p><p><strong>Methods: </strong>This cross-sectional study included children aged 12-60 months, divided into children with obesity and non-obese controls. Standardized anthropometric assessments were performed in all participants. Parents completed a structured questionnaire capturing perinatal characteristics, infant feeding practices, dietary intake, medical history, lifestyle behaviors, and household-level factors.</p><p><strong>Results: </strong>A total of 210 children (113 girls; 53.8%) were included, comprising 106 obese and 104 non-obese individuals, with comparable age between groups (3.4±1.3 vs. 3.3±1.3 years). Both maternal and paternal body mass index (BMI) values were significantly higher in the obese group, and maternal employment (27.4% vs. 5.8%) and maternal obesity (42.5% vs. 21.2%) were more prevalent. Maternal smoking during pregnancy (23.6% vs. 7.7%) and gestational diabetes (22.6% vs. 9.6%) were also more frequent. Feeding practices and current dietary patterns did not differ significantly between groups. In multivariable analysis, maternal employment (aOR 3.74), sibling obesity (aOR 2.21), and extended family obesity burden (aOR 1.19) independently predicted childhood obesity.</p><p><strong>Conclusion: </strong>Familial obesity burden, including parents, siblings and extended family members, showed the strongest associations with obesity, highlighting the need for early identification of high-risk children. The implementation of family-centered and family-encompassing preventive strategies targeting physical activity, diet, and daily routines should be considered in these high-risk children.</p>","PeriodicalId":48805,"journal":{"name":"Journal of Clinical Research in Pediatric Endocrinology","volume":" ","pages":"488-497"},"PeriodicalIF":1.9,"publicationDate":"2026-09-08","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC13554941/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"147469696","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}
引用次数: 0
The 40th Minute Cortisol Measurement is the Key Time-Point in the Low-Dose Synacthen Stimulation Test: A Large, Assay-Specific Pediatric Validation Study 40分钟皮质醇测量是低剂量Synacthen刺激试验的关键时间点:一项大型、测定特异性儿科验证研究。
IF 1.9 4区 医学
Journal of Clinical Research in Pediatric Endocrinology Pub Date : 2026-09-08 Epub Date: 2026-04-27 DOI: 10.4274/jcrpe.galenos.2026.2026-1-17
Buşra Gürpınar Tosun, Hazal Arıkan Gacemer, Didem Helvacıoğlu, Serap Turan, Abdullah Bereket, Tülay Güran
{"title":"The 40<sup>th</sup> Minute Cortisol Measurement is the Key Time-Point in the Low-Dose Synacthen Stimulation Test: A Large, Assay-Specific Pediatric Validation Study","authors":"Buşra Gürpınar Tosun, Hazal Arıkan Gacemer, Didem Helvacıoğlu, Serap Turan, Abdullah Bereket, Tülay Güran","doi":"10.4274/jcrpe.galenos.2026.2026-1-17","DOIUrl":"10.4274/jcrpe.galenos.2026.2026-1-17","url":null,"abstract":"<p><strong>Objective: </strong>Low-dose Synacthen stimulation test (LDSST) is widely used to assess central adrenal insufficiency (CAI). With the adoption of monoclonal antibody (mAb) cortisol immunoassays, lower basal and peak cortisol concentration thresholds require external validation under real-world clinical conditions. To externally validate previously defined LDSST sampling strategies, basal cortisol thresholds, and gray-zone cut-offs in a large real-world cohort using mAb immunoassays.</p><p><strong>Methods: </strong>This single-center retrospective study analyzed 646 LDSSTs in patients with suspected CAI, measuring baseline, 40<sup>th</sup>, and 60<sup>th</sup> minute cortisol levels after administration of 1 μg of synthetic Adrenocorticotropic hormone. The diagnostic performance of single and combined sampling strategies and previously defined basal cortisol thresholds and grey-zone cut-offs were evaluated across different peak cortisol criteria.</p><p><strong>Results: </strong>Cortisol measurement at 40<sup>th</sup> minute provided the most reliable single time-point assessment, with significantly fewer false-negative results than at 60<sup>th</sup> minute (p<0.0001). At the basal cortisol threshold of ≥6.5 μg/dL identified in our previous prospective study, specificity decreased from 68% to 57.5% (p=0.21) and sensitivity remained comparable (73.8% vs. 75.1%, p=0.74), while negative predictive value declined significantly from 91% to 78.4% (p=0.02) and positive predictive value increased to 53% in this retrospective cohort. Validation of basal cortisol gray-zone thresholds confirmed high diagnostic accuracy across different peak cortisol cut-offs.</p><p><strong>Conclusion: </strong>This study provides robust real-world external validation of LDSST sampling strategies and basal cortisol thresholds. Cortisol measurement at the 40<sup>th</sup> minute, combined with assay-specific basal cortisol interpretation and a gray-zone framework, offers a practical approach for individualized clinical decision-making in suspected CAI.</p>","PeriodicalId":48805,"journal":{"name":"Journal of Clinical Research in Pediatric Endocrinology","volume":" ","pages":"394-401"},"PeriodicalIF":1.9,"publicationDate":"2026-09-08","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC13554950/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"147786569","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}
引用次数: 0
Erratum. 勘误表。
IF 1.9 4区 医学
Journal of Clinical Research in Pediatric Endocrinology Pub Date : 2026-09-08 DOI: 10.4274/jcrpe.galenos.2026.e001
{"title":"Erratum.","authors":"","doi":"10.4274/jcrpe.galenos.2026.e001","DOIUrl":"10.4274/jcrpe.galenos.2026.e001","url":null,"abstract":"","PeriodicalId":48805,"journal":{"name":"Journal of Clinical Research in Pediatric Endocrinology","volume":"18 3","pages":"556"},"PeriodicalIF":1.9,"publicationDate":"2026-09-08","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC13554951/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"148913951","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}
引用次数: 0
Clinical and Genetic Characterization of Noonan Syndrome in a Colombian Pediatric Cohort 哥伦比亚儿童队列中努南综合征的临床和遗传特征。
IF 1.9 4区 医学
Journal of Clinical Research in Pediatric Endocrinology Pub Date : 2026-09-08 Epub Date: 2026-04-16 DOI: 10.4274/jcrpe.galenos.2026.2025-10-7
Silvia C Martínez Rueda, Maria del Pilar Montilla, Carolina Baquero, Susana Gómez, Maria Victoria Lopera, Nora Alejandra Zuluaga, Adriana Carolina Forero, Gustavo Giraldo, Nicolás Pineda Trujillo, Juan Camilo Martínez, Paola Durán Ventura, Juan Manuel Alfaro
{"title":"Clinical and Genetic Characterization of Noonan Syndrome in a Colombian Pediatric Cohort","authors":"Silvia C Martínez Rueda, Maria del Pilar Montilla, Carolina Baquero, Susana Gómez, Maria Victoria Lopera, Nora Alejandra Zuluaga, Adriana Carolina Forero, Gustavo Giraldo, Nicolás Pineda Trujillo, Juan Camilo Martínez, Paola Durán Ventura, Juan Manuel Alfaro","doi":"10.4274/jcrpe.galenos.2026.2025-10-7","DOIUrl":"10.4274/jcrpe.galenos.2026.2025-10-7","url":null,"abstract":"<p><strong>Objective: </strong>Describe the clinical manifestations and genetic variants of Noonan syndrome (NS) in a Colombian pediatric population and to identify the genes most frequently associated with specific phenotypic features.</p><p><strong>Methods: </strong>A retrospective observational study was conducted on patients under 18 years of age diagnosed with NS between 2013 and 2023. Clinical and molecular data were collected from medical records across several hospitals in Colombia. Molecular confirmation was achieved in all included patients through next generation sequencing-based clinical exome sequencing. However, parental samples were not available for segregation analysis in all cases. Descriptive statistical analyses were performed using R version 4.3.1 to evaluate demographic, clinical, and genetic variables.</p><p><strong>Results: </strong>Among the 45 patients included (21 females, 24 males; mean age at diagnosis 7.5±5.2 years), pathogenic variants were identified across 13 genes, with <i>PTPN11</i> being the most frequent (26/45, 57.8%), followed by <i>PPP1CB</i> and several less frequent genes including <i>SOS1, SOS2, LZTR1, RAF1, MAP2K1, KRAS, NRAS, BRAF, CBL, NF1</i>, and <i>SHOC2</i>. The most common phenotypic features were congenital heart defects (80%, 36/45), predominantly pulmonary stenosis (31.1%, 14/45), short stature (66.7%, 30/45), and learning difficulties (51.1%, 23/45). Seven patients developed neoplasms. Juvenile myelomonocytic leukemia was the most frequent neoplasm and occurred mainly in patients with <i>PTPN11</i> variants. Ten patients (22.2%) received growth hormone therapy.</p><p><strong>Conclusion: </strong>This study represents the first genetically characterized Colombian cohort for NS. <i>PTPN11</i> was the predominant gene identified, particularly the p.(Asn308Asp) variant. These findings reiterate the genetic heterogeneity of NS in Colombian children and the importance of early molecular diagnosis to guide clinical management. Multidisciplinary follow-up is essential due to the risks of growth failure, cardiac anomalies, and malignancies.</p>","PeriodicalId":48805,"journal":{"name":"Journal of Clinical Research in Pediatric Endocrinology","volume":" ","pages":"385-393"},"PeriodicalIF":1.9,"publicationDate":"2026-09-08","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC13554945/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"147692910","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}
引用次数: 0
Social Cognition in Adolescents with Gender Dysphoria and Congenital Adrenal Hyperplasia: A Preliminary Investigation of Biological vs. Experiential Gender Effects 性别焦虑和先天性肾上腺增生青少年的社会认知:生理与经验性别影响的初步研究。
IF 1.9 4区 医学
Journal of Clinical Research in Pediatric Endocrinology Pub Date : 2026-09-08 Epub Date: 2025-09-25 DOI: 10.4274/jcrpe.galenos.2025.2025-3-16
Begüm Yuluğ-Taş, Burcu Özbaran, İpek İnal-Kaleli, Nurhak Doğan, Arzu Jalilova, Samim Özen, Sezen Köse, Damla Gökşen, Şükran Darcan, Tezan Bildik
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