Five patients with congenital adrenal hyperplasia due to 21-hydroxylase deficiency (one with associated neuroblastoma) discovered in three generations of one family [0.03%]
21-羟化酶缺乏症所致先天性肾上腺皮质增生症(其中一例伴有神经母细胞瘤)在一家系三代人中的发现 - 5例报告
Nevena Janjanin,Miroslav Dumic,Veselin Skrabic et al.
Nevena Janjanin et al.
Background: Most patients with 21-hydroxylase deficiency (21-OHD) are compound heterozygous carriers. Their phenotype usually reflects a less severe allelic mutation, although discordance between the genotype and the phen...
Case Reports
Hormone research. 2007;67(3):111-6. DOI:10.1159/000096420 2007
Proximal 19q trisomy: a new syndrome of morbid obesity and mental retardation [0.03%]
19q近端三体综合征：一种新的肥胖和精神发育迟滞综合症
Amnon Zung,Shlomit Rienstein,Jenny Rosensaft et al.
Amnon Zung et al.
Aims: To report on the clinical and metabolic characteristic and the unique chromosomal defect of a mentally retarded and morbidly obese patient. Methods:...
Case Reports
Hormone research. 2007;67(3):105-10. DOI:10.1159/000096419 2007
Gluten-free diet impact on leptin levels in asymptomatic coeliac adolescents: one year of follow-up [0.03%]
无症状青少年肠病性自体免疫性营养不良患者无谷蛋白饮食对其瘦素水平影响的随访研究（一年）
M C Maggio,G Corsello,G Iacono et al.
M C Maggio et al.
Coeliac disease, daily more frequently diagnosed in our population, involves many organs also in oligosymptomatic patients and with an adequate nutritional regime. Possible endocrine implications include failure to thrive, pubertal delay an...
Incidental thyroid carcinoma in thyrotoxic patients treated by surgery [0.03%]
甲状腺功能亢进患者手术治疗时偶见的甲状腺癌
Mehtap Cakir,Cumhur Arici,Huseyin Alakus et al.
Mehtap Cakir et al.
Background and aims: Thyroid malignancy detected incidentally in patients who are operated for thyrotoxicosis has been reported at different rates. The aim of this study was to investigate the rate of incidental thyroid c...
Leydig-cell tumour in children: variable clinical presentation, diagnostic features, follow-up and genetic analysis of four cases [0.03%]
儿童Leydig细胞瘤的临床特点、诊断及遗传学分析
Vibor Petkovic,Souzan Salemi,Erik Vassella et al.
Vibor Petkovic et al.
Background: Testicular tumours are relatively uncommon in infants and children, accounting for only 1-2% of all paediatric solid tumours. Of these approximately 1.5% are Leydig-cell tumours. Further, activating mutations ...
Case Reports
Hormone research. 2007;67(2):89-95. DOI:10.1159/000096356 2007
Diabetes mellitus following paediatric renal transplantation: a single centre experience [0.03%]
儿童肾移植后糖尿病的一家中心的经验
S A Sukthankar,M A Lewis,N J A Webb et al.
S A Sukthankar et al.
Background/aims: Post-transplant diabetes mellitus (PTDM) has a variably reported incidence of 4-41% among adults and children. We describe our recent experience of four children with PTDM in a paediatric renal transplant...
Neonatal diabetes: how research unravelling the genetic puzzle has both widened our understanding of pancreatic development whilst improving children's quality of life [0.03%]
新生儿糖尿病：研究如何解开基因谜题，既扩大了我们对胰腺发育的理解，又改善了儿童的生活质量
Julian P H Shield
Julian P H Shield
It has become increasingly apparent over the last few years that the seemingly ubiquitous auto-immune aetiology to pre-pubertal diabetes does not apply to those diagnosed under 6 months of age. In this age group, disease appears, in the vas...
Saroj Nimkarn,Maria I New
Saroj Nimkarn
Congenital adrenal hyperplasia is a group of inherited disorders caused by an enzyme deficiency in steroid biosynthesis. The most common form of congenital adrenal hyperplasia is 21-hydroxylase deficiency, which in its severe form can cause...
Association of physical activity and the metabolic syndrome in children and adolescents: CASPIAN Study [0.03%]
儿童和青少年身体活动与代谢综合征的关系：CASPIAN研究
Roya Kelishadi,Emran Mohammad Razaghi,Mohammad Mehdí Gouya et al.
Roya Kelishadi et al.
Background/aim: To determine the association of physical activity and the metabolic syndrome in a large national-representative sample of children. Method...
Multicenter Study
Hormone research. 2007;67(1):46-52. DOI:10.1159/000096121 2007
Mutation and polymorphism analyses of INSL3 and LGR8/GREAT in 62 Japanese patients with cryptorchidism [0.03%]
日本62例隐睾患者INSL3和LGR8/G蛋白偶联受体介导的孤雌生殖素基因多态性和突变分析
Kazuki Yamazawa,Yuka Wada,Isoji Sasagawa et al.
Kazuki Yamazawa et al.
Background/aims: Although insulin-like factor 3 (INSL3) and its receptor leucine-rich repeat-containing G protein-coupled receptor 8/G protein-coupled receptor affecting testis descent (LGR8/GREAT) are essential for the g...