A Novel THRβ Variant in a Child With Resistance to Thyroid Hormone β: Diagnostic and Therapeutic Challenges [0.03%]
甲状腺抵抗综合征的一个新型THRβ突变：诊断和治疗的挑战
Gözde Gürpınar,Duygu Gamze Aracı
Gözde Gürpınar
Resistance to thyroid hormone beta (RTHβ) is a rare condition typically caused by mutations in the THRβ gene, characterized by elevated thyroid hormones with non-suppressed TSH levels. We present a pediatric case of RTHβ associated with ...
Diazoxide and Continuous Glucose Monitoring as Treatment in a Neonate with Hyperinsulinemic Hypoglycemia due to HNF4A Mutation [0.03%]
Diazoxide及动态血糖监测在HNF4A突变导致的新生儿高胰岛素性低血糖症治疗中的应用
Georgia Sotiriou,Stilianos Xinias,Valentina Diamantidou et al.
Georgia Sotiriou et al.
The transcription factor hepatocyte nuclear factor-4a plays a key role in insulin secretion and mutations in its encoding gene, HNF4A, have been associated with Monogenic diabetes (MODY 1) during adolescence or early adulthood and with tran...
X-linked Osteoporosis due to PLS3 Pathogenic Variant: Case Report on Zoledronic Acid Treatment in Siblings [0.03%]
PLS3基因病理性变异所致的X连锁骨质疏松症：两兄弟患病接受唑来膦酸治疗个案报告
María Camila Velandia-Avendaño,María Paula Sarmiento-Ramón
María Camila Velandia-Avendaño
Osteoporosis in children is a rare condition, often associated with genetic factors. Monogenic forms of osteoporosis linked to the X chromosome are often related to mutations in the gene encoding plastin 3 (PLS3). PLS3 is a protein involved...
A Kemal Topaloğlu,Leman Damla Kotan
A Kemal Topaloğlu
Idiopathic hypogonadotropic hypogonadism (IHH) comprises a group of disorders characterized by deficient secretion or action of gonadotropin-releasing hormone (GnRH), leading to impaired pubertal development and infertility. Traditionally, ...
Association with Metabolic Syndrome in Children Diagnosed with Type 1 Diabetes Mellitus: A Cross-sectional Study [0.03%]
儿童1型糖尿病合并代谢综合征的横断面研究
Serpil Albayrak,Murat Karaoglan,Mehmet Keskin et al.
Serpil Albayrak et al.
Objective: This study aimed to evaluate the prevalence of metabolic syndrome (MetS) in children with Type 1 Diabetes Mellitus (T1DM) and to determine the predictive value of simple anthropometric measurements-particularly...
Type 1 Diabetes Mellitus and Transfer from Pediatric to Adult Care: A Single-Center Experience [0.03%]
1型糖尿病向成人医疗转换的单中心经验研究
Betül Yiğit Yalçın,Ummahan Tercan,Melek Yildiz et al.
Betül Yiğit Yalçın et al.
Introduction: Type 1 diabetes mellitus (T1D) necessitates lifelong management, and a standardized transition protocol with multidisciplinary support can help ease the shift from pediatric-focused healthcare to adult care ...
A Case of CHARGE Syndrome with a Novel Intronic Variant in the CHD7 Gene [0.03%]
CHD7基因新型内含子变异所致CHARGE综合征病例报告
Eda Kaya,Emine Çamtosun,İsmail Dündar et al.
Eda Kaya et al.
CHARGE syndrome is an autosomal dominant disorder caused by variations in the CHD7 gene. The characteristic findings of the syndrome include coloboma (C), heart anomalies (H), choanal atresia (A), growth and developmental delay (R), genitou...
Responses of Different Artificial Intelligence Systems to Questions Related with Short Stature as Assessed by Pediatric Endocrinologists [0.03%]
儿科内分泌专家评估的人工智能系统对矮小症相关问题的反应
Kamber Kaşali,Özgür Fırat Özpolat,Merve Ülkü et al.
Kamber Kaşali et al.
Objective: Artificial intelligence (AI) is increasingly utilized in medicine, including pediatric endocrinology. AI models have the potential to support clinical decision-making, patient education, and guidance. However, ...
Growth Hormone Strongly Induces hSMN2 Promoter Driving Construct Gene Expression in Mammalian Cells [0.03%]
生长激素强烈诱导哺乳动物细胞中的hSMN2启动子驱动构建基因表达
Dilara Yücedal,Ahmet Arman
Dilara Yücedal
Objective: Spinal muscular atrophy (SMA) is the most common neurodegenerative disease caused by the absence or insufficiency of the survival motor neuron protein (SMN). hSMN1 is producing fully functional SMN protein but ...
Real-World Experience from Türkiye: Genetic and Therapeutic Insights in Pediatric Heterozygous Familial Hypercholesterolemia [0.03%]
土耳其儿科杂合性家族性高胆固醇血症的基因和治疗见解的真实世界经验
Havva Yazıcı,Esra Er,Fehime Erdem et al.
Havva Yazıcı et al.
Objective: Familial hypercholesterolemia (FH) is an inherited metabolic disorder that increases cardiovascular risk from childhood. Despite its frequency, pediatric diagnosis and treatment remain inadequate, particularly ...