Nadir Al-Saidi,Zainab Fatima,Ali S Esseili et al.
Nadir Al-Saidi et al.
Recurrent diabetic ketoacidosis (DKA) imposes a significant clinical burden in children living with diabetes. Socioeconomic status is a well-established determinant of DKA, but the seminal systematic review showing this association dates to...
Higher prevalence of islet-related autoantibody positivity in obese Chinese children and adolescents [0.03%]
肥胖中国儿童和青少年中与胰岛相关的自身抗体阳性患病率较高
Li Yujie,Li Yangxi,Hu Congyue et al.
Li Yujie et al.
Objectives: The prevalence of type 1 diabetes mellitus (T1DM) has increased along with rising incidence of childhood obesity. This study aims to investigate the prevalence of islet-related autoantibodies among obese child...
Case report: compound heterozygous PTH1R variant(s) in a patient with inactivating PTH/PTHrP signalling disorder type 1 (iPPSD1) [0.03%]
病例报告：1型无效甲状旁腺激素/甲状旁腺激素相关蛋白信号障碍（iPPSD1）患者的复合杂合变异PTH1R变异型
Abhishek Kulkarni,Devika Desai,Joewin Monteiro
Abhishek Kulkarni
Objectives: Inactivating parathyroid hormone (PTH)/PTHrP Signalling Disorder Type 1 (iPPSD1) is a rare genetic condition caused by loss-of-function mutations in the PTH1R gene, presenting with PTH resistance and variable ...
GH-IGF-1 axis and rhGH outcomes in children with GHD, ISS and SGA: a systematic review and meta-analysis [0.03%]
生长激素缺乏、小体重儿童和小于胎龄儿的GH-IGF-I轴及rhGH疗效的系统评价和meta分析
Ashraf T Soliman,Fawzia Alyafei,Nada Alaaraj et al.
Ashraf T Soliman et al.
Growth hormone deficiency (GHD), idiopathic short stature (ISS), and persistent short stature after birth small for gestational age (SGA) are major pediatric indications for recombinant human growth hormone (rhGH) therapy, but direct pooled...
Enver Simsek,Hüseyin İlhan,Murat Yilmaz et al.
Enver Simsek et al.
Objectives: Pheochromocytoma is a rare but potentially life-threatening tumor in children, and its diagnosis may be challenging due to variable clinical presentations. We aimed to describe the diagnostic process and clini...
Environmental neonicotinoid exposure and early gonadal development in girls with central precocious puberty [0.03%]
环境中的新型尼古丁类农药暴露与中枢性早熟女孩的早期生殖腺发育的关系
Pingping Wang,Xuefeng Jin,Suhong Yang et al.
Pingping Wang et al.
Objectives: Environmental endocrine disruptors (EDCs), particularly prevalent pesticide residues, are suspected contributors to the increasing incidence of central precocious puberty (CPP). This study explored the associa...
Asparagine synthetase deficiency: clinical features and experience with asparagine supplementation [0.03%]
天冬酰胺合成酶缺乏症的临床特征及天冬酰胺补充治疗经验
Tarık Yıldırım,Arzu Selamioğlu,Meryem Hilal Altaş et al.
Tarık Yıldırım et al.
Objectives: Asparagine synthetase deficiency is a rare autosomal recessive neurometabolic disorder characterized by congenital and progressive microcephaly, severe developmental delay, epilepsy, and progressive cerebral a...
Pharmacogenetic hypersensitivity to somatropin in a child with severe growth hormone deficiency and MC4R p.V166I variant [0.03%]
生长激素缺乏且MC4R p. V166I变异儿童对重组人生长激素的药理遗传学超敏反应
Ertugrul Sancak,Muammer Büyükinan,Ahmet Fatih Yılmaz et al.
Ertugrul Sancak et al.
Objectives: The melanocortin-4 receptor (MC4R) is a G protein-coupled receptor that regulates energy homeostasis. Pathogenic MC4R variants represent the most common cause of monogenic obesity and are frequently associated...
Congenital adrenal hyperplasia in children: a comprehensive review of clinical spectrum, diagnostic strategies, and management approaches [0.03%]
儿童先天性肾上腺皮质增生症的临床谱系、诊断策略和管理方法综合述评
Dinesh Giri,Julie Alderson,Munibah Bashir et al.
Dinesh Giri et al.
Introduction: Congenital adrenal hyperplasia (CAH) comprises a group of rare autosomal recessive disorders and is a leading cause of primary adrenal insufficiency in children. Most cases are due to classic 21-hydroxylase ...
Erhan Sönmez,Özlem Bostan Gayret,Meltem Erol et al.
Erhan Sönmez et al.
Objectives: This study aimed to evaluate serum apelin levels in obese adolescents and to investigate their association with hepatic steatosis and metabolic risk parameters. ...