Xp21 Contiguous Gene Deletion Syndrome: Diagnosis, Treatment, and a Review of the Literature on a Rare Genetic Disorder [0.03%]
XP21连锁基因删除综合症：诊断，治疗以及对一种罕见遗传障碍疾病的文献回顾
Berna Singin,Zeynep Donbaloğlu,Ebru Barsal Çetiner et al.
Berna Singin et al.
Xp21 contiguous gene deletion syndrome is an uncommon genetic condition associated with complex glycerol kinase deficiency (GK), congenital adrenal hypoplasia (NR0B1), Duchenne muscular dystrophy (DMD), and, in some cases, intellectual disa...
Thauvin-Robinet-Faivre Syndrome: A FIBP Variant in an Adolescent with Segmental Overgrowth and Thyroid Carcinoma [0.03%]
Thauvin-Robinet-Faivre综合症：青少年局部过度生长和甲状腺癌的FIBP变异型
Ulku Gul Siraz,Deniz Koçak Göl,Meino Rohlfs et al.
Ulku Gul Siraz et al.
Overgrowth syndromes are rare genetic disorders arising from alterations in the growth factors pathway. These syndromes can present as generalized overgrowth, characterized by macrosomia and excessive height compared to peers, or partial ov...
The Effect of Problematic Internet Use, Internet Gaming Disorder and Cyberbullying/Victimization Levels on Self-Esteem in Obese Adolescents [0.03%]
网络成瘾，网络游戏障碍以及肥胖青少年受欺凌水平对自尊的影响研究
Havvanur Eroğlu Doğan,Evrim Aktepe,Ümit Işık et al.
Havvanur Eroğlu Doğan et al.
Objectives: The aim of this study is to compare the levels of problematic internet use, self-esteem, internet gaming disorder and cyberbullying/victimization in adolescents diagnosed with obesity with the control group an...
What is the Most Effective Method for Predicting Adult Height in Boys with Constitutional Delay of Growth and Puberty? [0.03%]
对于生长和青春期发育迟缓的男孩，预测成人身高最有效的方法是什么？
Gözde Akın Kağızmanlı,Deniz Özalp Kızılay,Reyhan Deveci Sevim et al.
Gözde Akın Kağızmanlı et al.
Background: Predicted adult height (PAH) can be calculated using methods such as Bayley-Pinneau (BP), Roche-Wainer-Thissen (RWT), and BoneXpert based on bone age (BA) assessment. Since these methods were developed for hea...
A Novel SRD5A2 Loss-of-Function Variant in a Chinese Child with 5α-Reductase type 2 Deficiency [0.03%]
携带新型SRD5A2失活变异的2型5α-还原酶缺乏症中国儿童患者一例报告
Peng Zhou,Juanjuan Lyu,Xiaomei Sun et al.
Peng Zhou et al.
Differences or disorders of sex development (DSD) represent a range of congenital conditions that lead to discrepancies among a person's sex chromosomes, gonads, and anatomical sex. Variants in the SRD5A2 gene can lead to 5-alpha-reductase ...
Automatic Bone Age Determination in Adult Height Prediction for Girls with Early Variants Puberty and Precoccious Puberty [0.03%]
自动骨骼年龄测定在早期变异青春期和早熟女孩的成人身高预测中的应用
Murat Huseyin Yigit,Elif Eviz,Sukru Hatun et al.
Murat Huseyin Yigit et al.
Introduction: In cases of precocious puberty, the determination of bone age (BA) is usually performed by clinicians using the Greulich Pyle (GP) atlas, and there can be significant variation between assessors. The aim of ...
Tuğba Kontbay Çetin,Zuhal Keskin Sarılar
Tuğba Kontbay Çetin
Objective: Heavy menstrual bleeding (HMB) in adolescents often manifests as "excessive bleeding" and may result in acute anemia requiring emergency treatment. This study aimed to evaluate the diagnostic and management opt...
Korcan Demir,Kübra Yüksek Acınıklı
Korcan Demir
Cancer can occur in patients with Noonan syndrome (NS). Review of English literature revealed that myeloproliferative diseases are the most prevalent, followed by intracranial tumours. There is no genotype phenotype relationship between ger...
Assessment of Quadriceps Muscle Strength and Thickness in Adolescents with Polycystic Ovary Syndrome: A Case-control and Longitudinal Follow-up Study [0.03%]
青少年多囊卵巢综合征患者的股四头肌肌力和肌肉厚度的病例对照及纵向随访研究
Ayşe Gül Güven,Murat Kara,Sinem Güneri et al.
Ayşe Gül Güven et al.
Objective: No studies have investigated muscle strength and thickness in adolescents with polycystic ovary syndrome (PCOS). We investigated whether there were changes in quadriceps muscle thickness and strength between ad...
Attitudes Towards the Management of Congenital Hypothyroidism in Türkiye: National Survey Study [0.03%]
土耳其先天性甲状腺功能减退症管理态度的全国调查研究
Elif Sagsak,Aydilek Dagdeviren Cakır,Yavuz Ozer et al.
Elif Sagsak et al.
Objective: This study was conducted to assess the perspectives of pediatric endocrinologists in Türkiye on the management of congenital hypothyroidism (CH) and to analyze the potential impact of work environment and prof...