A Novel Biallelic Variant in The SERPINH1 Gene in Two Siblings Diagnosed with Osteogenesis Imperfecta Type X: Evidence of Intrafamilial Clinical Variability [0.03%]
SERPINH1基因新双等位基因变异导致的两例成骨不全症X型家系及其临床异质性研究
Akçahan Akalın,İsmet Rezani Toptancı,Şervan Özalkak et al.
Akçahan Akalın et al.
Osteogenesis imperfecta (OI) is a genetically and phenotypically heterogeneous group of disorders primarily characterized by bone fragility, impaired growth, and skeletal deformities. Although OI was historically attributed to monoallelic p...
Mucopolysaccharidosis or Skeletal Dysplasia?: Important Clinical and Radiologic Clues for Differential Diagnosis of Based on Difficult Cases [0.03%]
黏多糖贮积症还是骨骼发育不良？基于疑难病例的临床及影像鉴别要点
Ayşe Akyüz,Hakan Atalar,Kübra Çilesiz et al.
Ayşe Akyüz et al.
Background: The skeletal abnormalities of mucopolysaccharidosis(MPS) and skeletal dysplasia(SD) may be similar and even indistinguishable. This study aims to elucidate clinical clues and overlapping features that may assi...
Peer Victimization and Psychological Outcomes in Adolescents with Pubertal Gynecomastia: A Case-Control Study [0.03%]
青春期男性乳腺发育患者的同辈欺凌及心理结局：一项病例对照研究
Yasin Çalışkan,Zümrüt Kocabey Sütçü,Emel Hatun Aytaç Kaplan
Yasin Çalışkan
Objective: Pubertal gynecomastia is associated with psychosocial consequences including anxiety, depression, and body image disturbances. However systematic examination of bullying experiences and their psychological corr...
Single-Center Experience in Five Patients Diagnosed with Lipoid Congenital Adrenal Hyperplasia Due to Steroidogenic Acute Regulatory Protein (STAR) Gene Variants: A Rare Cause of Adrenal Insufficiency [0.03%]
5例类固醇急性调节蛋白（STAR）基因变异所致脂质先天性肾上腺皮质增生症单中心诊疗经验：一种罕见的肾上腺功能不全病因
Kürşat Çetin,Zeynep Donbaloglu,Yasemin Funda Bahar et al.
Kürşat Çetin et al.
Lipoid congenital adrenal hyperplasia (LCAH) is the rarest and most severe form of congenital adrenal hyperplasia (CAH), characterized by impaired adrenal and gonadal steroidogenesis. This case series aims to present our clinical experience...
Reversible Injection-Site Lipoatrophy Induced by Long-Acting Growth Hormone (Somatrogon) in Pediatric Growth Hormone Deficiency: A Case Series [0.03%]
长效生长激素(Somatrogon)在儿童生长激素缺乏症中引起的可逆性注射部位脂肪萎缩：病例系列分析
Kübra Şen Küçük,Göksel Tuzcu,Ahmet Anık
Kübra Şen Küçük
Recombinant human growth hormone (GH) has been utilized for nearly four decades in the management of growth hormone deficiency (GHD); however, adherence to daily injections may be suboptimal in children. To overcome this limitation, long-ac...
FKBP10 Variants: Differentiation Between Bruck Syndrome Type 1 And Osteogenesıs Imperfecta Type XI [0.03%]
FKBP10突变：Bruck综合征Ⅰ型与成骨不全症Ⅺ型的鉴别诊断
Gülümay Vural Topaktaş,Berna Eroğlu Filibeli,Hakan Birinci et al.
Gülümay Vural Topaktaş et al.
Biallelic FKBP10 variants cause autosomal recessive osteogenesis imperfecta(OI) type XI (OI-XI) and Bruck syndrome type 1 (BS-1), both characterized by bone fragility. However, BS-1 is additionally marked by joint contractures, leading to d...
Associations Between Dietary Diversity Score and Adiposity Indexes in Obese Adolescents [0.03%]
肥胖青少年饮食多样性与体脂指数的关系研究
Rukiye Bozbulut,Mehmet Ali Oktay,Ulaş Akçay et al.
Rukiye Bozbulut et al.
Objective: Nutrition can affect visceral adipose tissue, but the effect of dietary diversity on visceral adiposity is unknown. This study aimed to determine the relationship between dietary diversity and visceral adiposit...
18p Deletion Syndrome Associated with Type 1 Diabetes and Hashimoto's Thyroiditis: A Case Report on Autoimmune Disorders and Genetic Factors [0.03%]
关于1型糖尿病和桥本甲状腺炎的18P染色体缺失综合征病例报告：自身免疫性疾病与遗传因素的关系
Mehmet Ali Oktay,Elif Tuğçe Tunca Küçükali,Aylin Kılınç Uğurlu et al.
Mehmet Ali Oktay et al.
18p deletion syndrome is a rare chromosomal disorder that can present with a wide range of phenotypic features and is occasionally associated with autoimmune diseases. We report the case of a 3-year and 8-month-old girl who presented with p...
Severe Familial Hypertriglyceridemia in a Child with Compound Heterozygous Pathogenic APOA5 Variants: A Case Report and Therapeutic Challenge [0.03%]
儿童APOA5复合杂合突变导致严重家族性高甘油三酯血症的病例报告及治疗挑战
Nikola Ilić,Jovana Krstić,Dimitrije Cvetković et al.
Nikola Ilić et al.
Familial hypertriglyceridemia (FHTG) is a rare inherited lipid disorder that may present with severe phenotypes when caused by compound heterozygous or biallelic APOA5 variants. We report a male child diagnosed at 2.5 years of age with seve...
A Rare Cause of Sacral Insufficiency Fracture in Adolescence: Autosomal Dominant Hypophosphatemic Rickets due to Fgf23 de novo P.Arg176trp Variant [0.03%]
青少年骶骨疲劳骨折的罕见原因：由于Fgf23新变异体P.Arg176Trp导致的X连锁低磷血症佝偻病
Emel Hatun Aytaç Kaplan,Aytaç Kaplan,Aydeniz Aydın Gümüş et al.
Emel Hatun Aytaç Kaplan et al.
Autosomal dominant hypophosphatemic rickets (ADHR) is a rare metabolic bone disease with variable clinical presentation, caused by pathogenic variants in the FGF23 gene. The disease typically manifests in childhood with growth retardation a...