Results 1 to 10 of about 7,286 (173)

A polygenic score for height identifies an unmeasured genetic predisposition among pediatric patients with idiopathic short stature [PDF]

Genome Medicine
Background A subset of children with short stature do not have an identified clinical explanation after extensive diagnostic evaluation. We hypothesized that a polygenic score for height (PGSheight) could identify children with non-familial idiopathic ...
John P. Shelley, Mingjian Shi, Josh F. Peterson, Sara L. Van Driest, Jill H. Simmons, Jonathan D. Mosley   +5 more
doaj   +3 more sources

Metabolic Characteristics and Discriminative Diagnosis of Growth Hormone Deficiency and Idiopathic Short Stature in Preadolescents and Adolescents [PDF]

Molecules
Growth hormone deficiency (GHD) and idiopathic short stature (ISS) are the most common types of short stature (SS), but little is known about their pathogenesis, and even less is known about the study of adolescent SS.
Yajie Chang, Jing Chen, Hongwei Zhu, Rong Huang, Jinxia Wu, Yanyan Lin, Quanquan Li, Guiping Shen, Jianghua Feng   +8 more
doaj   +4 more sources

Idiopathic Short Stature: What to Expect from Genomic Investigations

Endocrines, 2023
Short stature is a common concern for physicians caring for children. In traditional investigations, about 70% of children are healthy, without producing clinical and laboratory findings that justify their growth disorder, being classified as having ...
Nathalia Liberatoscioli Menezes Andrade, Laurana Polli Cellin, Raissa Carneiro Rezende, Gabriela Andrade Vasques, Alexander Augusto Lima Jorge   +4 more
doaj   +3 more sources

Aggrecanopathy as an Underrecognized Cause of Idiopathic Short Stature: The Importance of Early Genetic Confirmation for Timely Diagnosis and Management—Case Reports and Literature Review [PDF]

Diseases
Background: Short stature is a frequent clinical problem with a broad differential diagnosis. Emerging evidence indicates that pathogenic variants in the ACAN gene represent an underrecognized cause of growth failure and are often misclassified as ...
Aleksandra Sosin, Tetiana Tkachuk, Aleksandra Furtak, Magdalena Janeczko, Karol Stożek, Teofila Książek, Helena Poławska, Damian Loska, Sebastian Wardak, Jerzy Starzyk, Dominika Januś   +10 more
doaj   +2 more sources

Short-acting growth hormone supplementation for bone age and growth rate in children with idiopathic short stature: a meta-analysis [PDF]

BMC Pediatrics
Objective To explore the effect of short-acting growth hormone (GH) supplementation on bone age and growth rate of children with idiopathic short stature.
Lianlian Yang, Fan Yang
doaj   +2 more sources

Case analysis and literature review of 3 children with short stature with ACAN gene mutation [PDF]

Zhenduanxue lilun yu shijian, 2023
Objective: To analyze the clinical features and genetic changes of 3 children in short stature with ACAN gene mutation. Methods: The clinical data, laboratory examinations, and genetic testing results of 3 children with ACAN gene mutations diagnosed with
LI Yanxiao, LU Wenli, WANG Xinqiong, CHEN Ye, XIAO Yuan, DONG Zhiya, MA Xiaoyu
doaj   +1 more source

Involvement of the vitamin D receptor gene in the development of idiopathic short stature

Mìžnarodnij Endokrinologìčnij Žurnal, 2023
Background. The vitamin D receptor (VDR) gene is loca­lized in the chromosome 12 (region 12q13). Its polymorphic variants BsmI and FokI are the most promising in clinical and diagnostic terms.
O.V. Bolshova, M.O. Ryznychuk, D.A. Kvachenyuk   +2 more
doaj   +1 more source

SHOX Deletion and Idiopathic Short Stature: What Does the Clinician Need to Know? Case Series Report

Diagnostics, 2022
Children diagnosticated with idiopathic short stature (ISS) are probably, in most cases, underdiagnosticated. The genetic causes of ISS may be mutations of genes involved in local regulation of the growth plate or genes involved in the GH-IGF1 axis ...
Maria-Christina Ungureanu, Anamaria Hrisca, Lavinia Caba, Laura Teodoriu, Stefana Bilha, Cristina Preda, Letitia Leustean   +6 more
doaj   +1 more source

Prevalence and Aetiological Profile of Short Stature in School Children between 6-11 Years of Age- A Community Based Prospective Observational Study [PDF]

Journal of Clinical and Diagnostic Research, 2023
Introduction: Growth is a complex process and influenced by genetic back ground, different functions of endocrine system, nutrition, effect of any chronic disease and the level of individual physical activity.
Jasmine Kandagal, Suman Rath, Madhuri Maganti, Caroline Elizabeth George   +3 more
doaj   +1 more source

Serum Metabonomics Reveals Key Metabolites in Different Types of Childhood Short Stature

Frontiers in Pharmacology, 2022
Graphical AbstractSS, short stature; SDS, standard deviation scores; Control, normal height, n=30; ISS, idiopathic short stature n=31; GHD, short stature caused by growth hormone deficiency, n=29.
Guoyou Chen, Jinming Wang, Yisi Jing, Chunxiang Li, Wenyue Zhang, Shuang Yang, Ye Song, Xin Wang, Jincheng Liu, Dejun Yu, Zhichun Xu   +10 more
doaj   +1 more source