Short Stature and Growth Hormone Deficiency in POMC Deficiency: An Unexpected Clinical Association [0.03%]
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...
İsmail Hakkı Akbeyaz,Yasemin Akın,Berkin Berk Akbeyaz et al.
İsmail Hakkı Akbeyaz et al.
Background: Early childhood obesity is an increasing public health problem with long-term consequences. Identifying risk factors is essential for effective prevention strategies. ...
Once-Weekly Somatrogon in Pediatric Growth Hormone Deficiency: Real-World Efficacy, Safety, and Quality-of-Life Findings [0.03%]
Kübra Şen Küçük,Sebla Güneş,Mustafa Dinçer et al.
Kübra Şen Küçük et al.
Objective: To report real-world 6- and 12-month outcomes in children with growth hormone deficiency (GHD) treated with somatrogon or somatropin, including those who transitioned from somatropin to somatrogon. ...
Late-Onset and Recurrent Agranulocytosis During Low-Dose Methimazole Therapy in an Adolescent with Graves' Disease [0.03%]
Betül Demircan Coşkun,Şebnem Yılmaz,Balahan Bora et al.
Betül Demircan Coşkun et al.
Graves' disease (GD) is the most common cause of thyrotoxicosis in the pediatric population. Methimazole (MMI) is the first-line therapy; however, it may rarely cause agranulocytosis, a potentially life-threatening adverse effect. Recurrent...
Primary Adrenal Insufficiency in Pseudo-Neonatal Adrenoleukodystrophy Case Report [0.03%]
假新生儿肾上腺脑白质营养不良的原发性肾上腺功能不全病例报告
İhsan Turan,Fatma Derya Bulut,Leman Damla Kotan et al.
İhsan Turan et al.
Primary adrenal insufficiency (PAI) in childhood is a rare and potentially life-threatening condition that may arise from defects in adrenal steroidogenesis, adrenal dysgenesis, ACTH resistance, autoimmune mechanisms, or inherited metabolic...
Four Consecutive False Negative Newborn Screens in a Patient with Classical Congenital Adrenal Hyperplasia: A Case Report [0.03%]
一例经典型先天性肾上腺皮质增生症患儿连续4次新生儿筛查假阴性的病例报告
Patrick Rizzuto,Mariam Gangat,Ahmed Khattab et al.
Patrick Rizzuto et al.
21-hydroxylase deficiency is the most common cause of congenital adrenal hyperplasia (CAH). Salt-wasting CAH can present with life-threatening salt-wasting crises, underscoring the importance of universal newborn screening. We present a pat...
Association Between Gastrointestinal Symptoms and Sleep Habits in Children with Metabolic Dysfunction-Associated Steatotic Liver Disease: a Cross-Sectional Study [0.03%]
代谢紊乱相关性脂肪肝病儿童胃肠症状与睡眠习惯的横断面研究
Behzat Ozkan,Ishak Abdurrahman Isik,Atike Atalay et al.
Behzat Ozkan et al.
Objective: Reduced sleep quality in children has been associated with obesity and fatty liver disease; however, there are no studies evaluating the impact of gastrointestinal symptoms on sleep quality in children with met...
Mucocutaneous Findings and Endocrinopathies in Children with Turner Syndrome: A Cross-Sectional Study [0.03%]
特纳综合征患儿的黏膜皮肤表现和内分泌异常：一项横断面研究
Selami Aykut Temiz,Filiz Cebeci,Aslıhan Çiçekli et al.
Selami Aykut Temiz et al.
Objective: This study aims to investigate the frequency of skin, hair, nail, and mucosal findings in children with Turner Syndrome (TS) and their associations with coexisting endocrinopathies. ...
Transition of Care in X-Linked Hypophosphatemic Rickets: From Pediatric to Adult Practice- A Narrative Review [0.03%]
伴X染色体低磷血症性佝偻病的医疗过渡：从儿科到成人实践——叙述性综述
Tugce Kandemir,Firdevs Bas,Serap Turan et al.
Tugce Kandemir et al.
X-linked hypophosphatemic rickets (XLH) requires lifelong, coordinated, and multidisciplinary care, and the transition from pediatric to adult services represents a particularly vulnerable period often accompanied by reduced treatment adher...