Results 11 to 20 of about 58,115 (154)

Etiologies and characteristics of children with chief complaint of short stature [PDF]

Annals of Pediatric Endocrinology & Metabolism, 2015
PurposeShort stature is a very common reason for visits to pediatric endocrine clinics. It could be the first sign of an underlying disease. The purpose of this study is to investigate the etiologies and general characteristics of subjects who visited an
Kyung Chul Song, Song Lee Jin, Ah Reum Kwon, Hyun Wook Chae, Jung Min Ahn, Duk Hee Kim, Ho-Seong Kim   +6 more
doaj   +1 more source

Genetics of Short Stature [PDF]

Endocrinology and Metabolism Clinics of North America, 2017
Short stature is a common and heterogeneous condition that is often genetic in etiology. For most children with genetic short stature, the specific molecular causes remain unknown; but with advances in exome/genome sequencing and bioinformatics approaches, new genetic causes of growth disorders have been identified, contributing to the understanding of
Youn Hee, Jee, Anenisia C, Andrade, Jeffrey, Baron, Ola, Nilsson   +3 more
openaire   +2 more sources

Genetic syndromes and skeletal dysplasia associated with short stature – A case series

Apollo Medicine, 2023
Introduction: Stature has a very high heritability index of about 80%. There are multiple genes which regulate the chondrogenesis at the growth plate. It is but natural that mutations or defects involving these genes lead to normal variant short stature ...
Divya Agarwal, I P S. Kochar, Vineet Bhushan Gupta, Kriti Menon   +3 more
doaj   +1 more source

Healthy short stature [PDF]

Archives of Endocrinology and Metabolism
Idiopathicshort stature (ISS) has been used for more than five decades to label children whose height is below -2 SDS without an identified underlying cause.
Alexander A. L. Jorge, Paulo F. Collett-Solberg, Margaret C. S. Boguszewski   +2 more
doaj   +2 more sources

A study of short stature among adolescents in the rural tertiary center- A prospective observational study [PDF]

Al Ameen Journal of Medical Sciences, 2021
Background: Long-term morbidities during the adolescence period cause short stature which is permanent, once epiphysis fuse. Objectives: To evaluate etiology in short stature adolescents and its relation with HSDS (Height Standard Deviation Score) and BA
Dixa Shah, Sunil Pathak, Prasad Muley, Prashant Modi, Naveed M Ahmed, Vivek Bhatt   +5 more
doaj  

Short Stature Homeobox-Containing Haploinsufficiency in Seven Siblings with Short Stature

Case Reports in Endocrinology, 2017
Deficiency of the short stature homeobox-containing (SHOX) gene is a frequent cause of short stature in children (2–15%). Here, we report 7 siblings with SHOX deficiency due to a point mutation in the SHOX gene.
Elizabeth S. Sandberg, Ali S. Calikoglu, Karen J. Loechner, Lydia L. Snyder   +3 more
doaj   +1 more source

Short stature and SHOX (Short stature homeobox) variants—efficacy of screening using various strategies [PDF]

PeerJ, 2020
Background SHOX mutations have previously been described as causes of Léri-Weill dyschondrosteosis (LWD), Langer mesomelic dysplasia (LMD), and idiopathic short stature. The loss of X chromosome—Turner syndrome or mosaic 45,X/46,XX or 46,XY—also leads to
Pavlina Capkova, Zuzana Capkova, Peter Rohon, Katerina Adamová, Jirina Zapletalova   +4 more
doaj   +2 more sources

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

Relationship between short stature at 3 years old and height, weight, and body mass index changes for 6 years after birth: a retrospective, nationwide, population-based study of children born 2011–2014 in Korea [PDF]

Annals of Pediatric Endocrinology & Metabolism, 2023
Purpose Height at 3 years of age, when catch-up growth based on birth history is completed, is considered a major prognostic factor for predicting short stature, underweight, and growth faltering.
Seo Jung Kim, Ju Hyun Jin, In Hyuk Chung
doaj   +1 more source

Management of short stature

Western Journal of Medicine, 2002
A 12-year-old girl is brought in by her mother, who is concerned because her daughter is short even compared with other family members. She estimates that her daughter has grown less than 3 cm ( 1 in) in the past year andasks if she should receive growth hormone-a treatment that was recently mentioned in a newspaper article. The girl has no significant
Shayne P, Taback, Heather J, Dean, Elizabeth, Elliott   +2 more
openaire   +3 more sources