Pediatric Complete Androgen Insensitivity Syndrome (CAIS): Clinical Presentation, Hormonal Profiles, and Gonadal Management [0.03%]
儿童完全性雄激素不敏感综合征（CAIS）的临床表现、激素特征及gonad管理
Elzbieta Marczak,Maria Szarras-Czapnik,Agata Skórka et al.
Elzbieta Marczak et al.
Introduction: Complete Androgen Insensitivity Syndrome (CAIS) is caused by mutations in the androgen receptor gene (AR), leading to androgen resistance. Early recognition is crucial for management. To evaluate clinical pr...
Coexistence of T1DM and GCK-MODY: Case Report and Literature Review [0.03%]
1型糖尿病与GCK-MODY共存的病例报告和文献回顾
Yurong Piao,Congli Chen,Yuqi Miao et al.
Yurong Piao et al.
Coexistence of Type 1 diabetes mellitus (T1DM) with glucokinase maturity-onset diabetes of the young (GCK-MODY) is extremely rare. Herein, we reported a case, conducted a systematic review and summarized the other reported cases to enhance ...
Challenges in Sex Assignment in 46,XX Congenital Adrenal Hyperplasia due to 21-hydroxylase Deficiency and 11β-hydroxylase Deficiency in Developing Countries: Insights from an Expert Center in Indonesia [0.03%]
发展中国家中由于21-羟化酶和11β-羟化酶缺乏导致46,XX先天性肾上腺皮质增生的性别分配挑战：来自印度尼西亚专家中心的见解
Irene Astrid Larasati,Agustini Utari,Annastasia Ediati et al.
Irene Astrid Larasati et al.
Background: The absence of newborn screening, insufficient knowledge among medical professionals, and poor treatment adherence in Congenital Adrenal Hyperplasia (CAH) in Indonesia caused late diagnosis. This study present...
Measurement of 11-Oxo-Androgens, A Novel Biomarker, in Females with Clinical Signs of Premature Adrenarche [0.03%]
测量11-氧代雄性激素，一种新型生物标志物，在具有早初肾上腺征兆的女性中的测量结果
Liana Gabriel,Jorge Mejia-Corletto,Beatriz Blinov et al.
Liana Gabriel et al.
Background: Endocrine findings in premature adrenarche have been characterized by elevated DHEAS levels in the past. Methods: We review...
Isolated Hypoglyceamia in Children with Cystic Fibrosis: Role of Pancreatic Insufficiency and Glucagon Response [0.03%]
囊性纤维化患儿孤立性低血糖症：胰腺功能不全和胰高糖素反应的作用
Belma Haliloglu,Tuba Seven Menevse,Seda Gulec Yilmaz et al.
Belma Haliloglu et al.
Background: Hypoglycaemia is one of the comorbidities that adversely affects the quality of life in patients with cystic fibrosis (CF). Isolated hypoglycaemia (IsoHypo) is poorly described in patients with CF and its aeti...
Improving Diabetes Care Through Teamwork, Comprehensive Education, Tighter Goals, and Technology: Single-Center Data from Türkiye [0.03%]
通过团队合作、全面教育、更严格的目标和技术创新改善糖尿病护理：来自土耳其单中心的数据
Elif Eviz,Kagan Ege Karakus,Tugba Gokce et al.
Elif Eviz et al.
Introduction: The management of type 1 diabetes (T1D) in children aims to achieve an HbA1c of
Real-World Efficacy of Weekly Somatrogon on Growth and Bone Health in Pediatric Growth Hormone Deficiency: A 12-Month Retrospective Cohort Study [0.03%]
一项为期12个月的回顾性队列研究评估了在儿科生长激素缺乏症中，每周一次somatrogon对生长和骨骼健康方面的疗效
Mohammad Hosny Awad,Reham Ghanim,Rania Eladl et al.
Mohammad Hosny Awad et al.
Background: Growth hormone deficiency (GHD) in children results in short stature and impaired bone health. While daily growth hormone (GH) injections are effective, they are associated with adherence challenges. Somatrogo...
Social Cognition in Adolescents With Gender Dysphoria and Congenital Adrenal Hyperplasia: A Preliminary Investigation of Biological vs. Experiential Gender Effects [0.03%]
青春期性别不安和先天性肾上腺皮质增生症患者的社会认知：生物与体验性别效应的初步调查
Begum Yulug-Tas,Burcu Ozbaran,Ipek Inal-Kaleli et al.
Begum Yulug-Tas et al.
Objective: This study aims to explore hormonal and neurodevelopmental influences on social cognition among individuals with Gender Dysphoria (GD), Congenital Adrenal Hyperplasia (CAH), and typically developing (TD) contro...
The Opposite Phenotype of Sotos Syndrome: 5q35.2q35.3 Microduplication Syndrome [0.03%]
森诺斯综合征的相反表型：5q35.2q35.3微重复综合征
Kübra Şen Küçük,Aydan Mengübaş Erbaş,Zehra Manav Yiğit et al.
Kübra Şen Küçük et al.
Sotos syndrome is a genetic disorder resulting from heterozygous pathogenic variants or deletions in the nuclear receptor-binding SET domain protein 1 (NSD1) gene. It is characterized by prenatal and postnatal overgrowth, macrocephaly, dist...
The Course of Progranulin Levels at Admission and During Early Period of Insulin Treatment in Children with Newly Diagnosed Type 1 Diabetes Mellitus [0.03%]
新诊断1型糖尿病患儿入院时及早期胰岛素治疗期间补粒蛋白水平变化规律的研究
Ayse Sena Donmez,Atilla Cayir,Esra Laloglu et al.
Ayse Sena Donmez et al.
Objective: Progranulin (PGRN), a growth factor, modulates cell proliferation, wound repair, and inflammation. It involves glucose metabolism and is associated with insulin resistance and diabetes mellitus (DM). In the pre...