An Unexpected Result in a Case of Gonadal Dysgenesis: Noonan Syndrome Caused by RIT1 Mutation [0.03%]
性分化异常病例中意外发现的诺纳努恩综合征的原因是RIT1基因突变
Şafak Demirtaş,Elif Özsu,Zeynep Şıklar et al.
Şafak Demirtaş et al.
Noonan syndrome occurs in approximately 1/1,000-1/2,500 live births and is caused by defects in the Ras/mitogen-activated protein kinase pathway. Pubertal development includes syndrome-specific differences which may manifest as delayed pube...
Heterozygous TSHR Variants in Pediatric Idiopathic Subclinical Hypothyroidism: Association with a Variable and Compensated Thyroid Phenotype [0.03%]
儿童特发性亚临床甲状腺功能减退症中TSHR杂合变异与多变代偿性甲状腺表型的关联性研究
Ayşe Yaşar,Murat Hakkı Yarar,Heves Kırmızıbekmez et al.
Ayşe Yaşar et al.
Background: Subclinical hypothyroidism (SH) in childhood is frequently idiopathic and usually follows a benign course. Heterozygous loss-of-function variants in the thyrotropin receptor (TSHR) gene have emerged as a genet...
Demet Aygün Arı,Semra Çetinkaya
Demet Aygün Arı
The 40th Minute Cortisol Measurement is the Key Time-Point in the Low-Dose Synacthen Stimulation Test: A Large, Assay-Specific Pediatric Validation Study [0.03%]
皮质醇检测的第40分钟是低剂量合成促肾上腺皮质激素刺激试验的关键时间点：一项大规模、特异于检验方法的儿科验证研究
Busra Gurpinar Tosun,Hazal Arikan Gacemer,Didem Helvacioglu et al.
Busra Gurpinar Tosun et al.
Background: 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 con...
BMI-SDS Changes During GnRHa Therapy in 150 Girls with Idiopathic Central Precocious Puberty: Follow-up Through Final Height [0.03%]
一项关于GnRHa治疗特发性中枢性早熟女孩的BMI-SDS变化的研究（随访至成年身高）
Didem Helvacıoğlu,Busra Gurpinar Tosun,Sefa Öğe et al.
Didem Helvacıoğlu et al.
Objective: 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 (GnRHa) from treatment...
A Comparative Assessment of Large Language Models in Congenital Hypothyroidism: Reliability, Quality and Readability [0.03%]
先天性甲状腺功能减退症大型语言模型的比较评估：可靠性、质量和可读性
Ebru Barsal Çetiner,Berna Singin
Ebru Barsal Çetiner
Objective: To comparatively evaluate the reliability, quality, and readability of responses generated by widely used large language model (LLM)-based chatbots to congenital hypothyroidism (CH)-related patient questions. ...
Clinical and Genetic Characterization of Noonan Syndrome in a Colombian Pediatric Cohort [0.03%]
哥伦比亚儿童诺伦综合征的临床和基因特征分析
Silvia C Martínez Rueda,Maria Del Pilar Montilla,Carolina Baquero et al.
Silvia C Martínez Rueda et al.
Objective: This study aimed to describe the clinical manifestations and genetic variants of Noonan syndrome in a Colombian pediatric population and to identify the genes most frequently associated with specific phenotypic...
A 13-Year-Old Girl with Congenital Hyperinsulinemic Hypoglycemia Due to an ABCC8 Mutation and Recent Onset of Diabetes Mellitus: A Case Report and Literature Review [0.03%]
一种ABCC8基因突变导致的儿童先天性高胰岛素血症合并糖尿病病例报告及文献复习
Aikaterini Kantzavelou,Ekaterini Siomou,Anny Mertzanian et al.
Aikaterini Kantzavelou et al.
Congenital hyperinsulinism (HI) is the most prevalent cause of persistent hypoglycemia in infancy and childhood and comprises a heterogeneous group of genetic disorders affecting insulin secretion. The most common etiology involves inactiva...
Subclinical Hypothyroidism in Children: Natural History, Risk Factors, and Outcomes [0.03%]
儿童亚临床甲状腺功能减退的自然病程、危险因素及转归
Nur Şeyma Zengin,Elif Sağsak,Seda Geylani Güleç
Nur Şeyma Zengin
Background: Subclinical hypothyroidism (SH) is defined by elevated thyroid-stimulating hormone (TSH) with normal thyroid hormone levels and typically presents without specific symptoms in children. Although treatment crit...
Short Stature and Growth Hormone Deficiency in POMC Deficiency: An Unexpected Clinical Association [0.03%]
黑皮质素原肽缺陷中的矮小和生长激素缺乏：意外的临床联系
Uğur Cem Yılmaz,Deniz Özalp Kızılay,Damla Gökşen et al.
Uğur Cem Yılmaz et al.
Proopiomelanocortin (POMC) deficiency is a rare monogenic obesity syndrome typically characterized by early-onset obesity, red hair, and hypopigmentation, while linear growth is usually preserved. We report an adolescent girl with genetical...