Time Course of Central Precocious Puberty Development Caused by an MKRN3 Gene Mutation: A Prismatic Case [0.03%]
MKRN3基因突变中枢性早熟发病过程的一个病例报告
Monica F Stecchini,Delanie B Macedo,Ana Claudia S Reis et al.
Monica F Stecchini et al.
Background: Loss-of-function mutations in the imprinted gene MKRN3 represent the most common known genetic defects associated with central precocious puberty (CPP). ...
Splicing Defects in the AAAS Gene Leading to both Exon Skipping and Partial Intron Retention in a Tunisian Patient with Allgrove Syndrome [0.03%]
突尼斯全Groove综合征患者AAAS基因剪接缺陷导致外显子跳读和部分内含子滞留
Fakhri Kallabi,Bochra Ben Rhouma,Siwar Baklouti et al.
Fakhri Kallabi et al.
Background/aims: Allgrove syndrome is a rare autosomal recessive disorder characterized by the triad of adrenal insufficiency, achalasia, and alacrima. This syndrome is caused by mutations in the AAAS gene. A major splice...
Clinical Trial
Hormone research in paediatrics. 2016;86(2):90-93. DOI:10.1159/000446539 2016
Automatic Determination of the Greulich-Pyle Bone Age as an Alternative Approach for Chinese Children with Discordant Bone Age [0.03%]
用于中国骨龄离散儿童的Greulich-Pyle骨龄自动测定法替代方案研究
Ji Zhang,Fangqin Lin,Xiaoyi Ding
Ji Zhang
Background: Automated bone age (BA) rating using BoneXpert is being adopted worldwide. This study investigated whether manual matching of hand radiographs could be replaced by BoneXpert for BA ratings of Chinese children ...
Clinical Trial
Hormone research in paediatrics. 2016;86(2):83-89. DOI:10.1159/000446434 2016
A Subtrochanteric Femoral Stress Fracture following Bisphosphonate Treatment in an Adolescent Girl [0.03%]
一名少女在接受双膦酸盐治疗后发生股骨转子下应力骨折
Alison M Boyce,Michael T Collins,Laura L Tosi et al.
Alison M Boyce et al.
Atypical subtrochanteric and diaphyseal femoral fractures (AFFs) have emerged as a potential complication of bisphosphonate treatment in adults. Despite increasing off-label use of bisphosphonates in children and adolescents for a variety o...
Practical Application of Elastography in the Diagnosis of Thyroid Nodules in Children and Adolescents [0.03%]
弹性成像技术在儿童及青少年甲状腺结节诊断中的应用
Hanna Borysewicz-Sanczyk,Janusz Dzieciol,Beata Sawicka et al.
Hanna Borysewicz-Sanczyk et al.
Background: Ultrasound elastography is a noninvasive method of imaging based on the estimation of the mechanical properties of tissue. Data in adults indicate that decreased flexibility in comparison to the surrounding he...
Clinical Trial
Hormone research in paediatrics. 2016;86(1):39-44. DOI:10.1159/000447490 2016
Development and Validation of a Simple Diagnostic Method to Detect Gain and Loss of Function Defects in Fibroblast Growth Factor-23 [0.03%]
FGF23功能增强型和缺失型缺陷的简单诊断方法的开发与验证
Ahmad R Ramadan,Said M Shawar,Manal A Alghamdi
Ahmad R Ramadan
Background: Fibroblast growth factor-23 (FGF23) is a bone-derived hormone that regulates the homeostasis of phosphate and vitamin D. Three substitutions in the hormone are reported to cause autosomal dominant hypophosphat...
Clinical Trial
Hormone research in paediatrics. 2016;86(1):45-52. DOI:10.1159/000447113 2016
Height Outcome of Recombinant Human Growth Hormone Treatment in Achondroplasia Children: A Meta-Analysis [0.03%]
重组人生长激素治疗软骨发育不全儿童终身高Meta分析
Mario Miccoli,Silvano Bertelloni,Francesco Massart
Mario Miccoli
Background/aims: Although recombinant human growth hormone (rhGH) is not approved to treat short stature of achondroplasia (ACH), some studies suggested growth improvement during short-term rhGH treatment. ...
Pituitary Antibodies in an Adolescent with Secondary Adrenal Insufficiency and Turner Syndrome [0.03%]
唐氏综合征伴继发性肾上腺皮质功能减退的青少年垂体抗体阳性
Allison J Pollock,Tasa S Seibert,Cristiana Salvatori et al.
Allison J Pollock et al.
Background/aims: Autoimmune hypophysitis (AH) is a rare inflammatory disease of the pituitary gland causing varying degrees of hypopituitarism and/or sellar compression. Cranial MRI remains the best noninvasive tool to di...
Growth Hormone Excess in Children with Optic Pathway Tumors Is a Transient Phenomenon [0.03%]
儿童视路肿瘤伴生长激素过多症为一暂时现象
Jami L Josefson,Robert Listernick,Joel Charrow et al.
Jami L Josefson et al.
Background/aims: Growth hormone (GH) excess in children with chiasmal optic pathway tumors (OPT), often associated with neurofibromatosis type 1 (NF1), is likely underrecognized. These children have elevated insulin-like ...
Clinical Trial
Hormone research in paediatrics. 2016;86(1):35-8. DOI:10.1159/000447326 2016