Results 21 to 30 of about 3,279,632 (183)

GH responsiveness in a large multinational cohort of SGA children with short stature (NESTEGG) is related to the exon 3 GHR polymorphism [PDF]

, 2007
Objective: The polymorphic deletion of exon 3 of the GH receptor (d3-GHR) has recently been linked to the magnitude of growth response to recombinant human GH (rhGH) therapy in short children with or without GH deficiency.
Ranke, MB, Ester, W.A. (Wietske), Johnston, L.B., Tauber, M, Fryklund, L, Fauvel, J, Fauvel, J., Ranke, M.B., Johnston, LB, Hokken-Koelega, AC, Ester, WA (Wietske), Auriol, F., Nugent, T., Savage, M.O., Molinas, C. (Catherine), Molinas, C, Hokken - Koelega, Anita, Auriol, F, Ester, W, NESTEGG group, Savage, MO, Caliebe, J, Clark, AJ, Fryklund, L., Caliebe, J. (Janina), Nugent, T, Tauber, M., Clark, A.J.L., Hokken-Koelega, A.C.S. (Anita), Clark, AJL   +29 more
core   +1 more source

SHOX Gene Screening in Familial Short-stature Females [PDF]

Journal of Medical Academics
Introduction: As idiopathic short stature (ISS) has been linked to mutations in the SHOX gene, research into SHOX gene mutations in idiopathic familial short stature (FSS) is crucial. Early intervention planning necessitates the timely evaluation of FSS.
Karishma Sharma, Prashant Kumar Verma, Shashi Ranjan Mani Yadav, Brijendra Singh, Manisha Naithani   +4 more
doaj   +1 more source

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 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

Definition and prevalence of familial short stature [PDF]

, 2021
Objective: To verify the prevalence of novel definitions of familial short stature on a cross-sectional cohort of children referred for short stature when their height and that of both parents were measured.
Grigoletto, Veronica, Occhipinti, Alessandro Agostino, Sirchia, Fabio, Barbi, Egidio, Tornese, Gianluca, Pellegrin, Maria Chiara   +5 more
core   +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

Assessment and referral of patients with short stature by primary care physicians in the Arabian gulf region: Current perspectives from a regional survey

Frontiers in Pediatrics, 2022
Children with short stature are frequently referred late to pediatric endocrinologists in the Arabian Gulf region. This is likely a contributing factor to late initiation of treatment despite current evidence suggesting that children with short stature ...
W. Kaplan, E. Al Amiri, N. Attia, I. Al Basiri, I. Romany, E. Al Shehri, E. Al Shehri, A. Al Twaim, S. Al Yaarubi, A. Deeb, A. Deeb   +10 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

Childhood Short Stature [PDF]

Al Ameen Journal of Medical Sciences, 2012
Childhood short stature comprises Varity of endocrinal, systemic, Skeletal & genetic disorders of pediatrics and is not just confined for endocrinal disorder only. A systemic approach often reduces the need for test which is often expensive &unnecessary.
J.Ray
doaj  

Coping and quality of life of parents of children with achondroplasia—a narrative review

Frontiers in Medicine
BackgroundCaring for individuals with a chronic disease imposes a substantial burden on parents, significantly impacting their quality of life. For parents of children with achondroplasia, caregiving has notable implications for coping mechanisms and ...
Adekunle Adedeji, Adekunle Adedeji, Stefanie Witt, Stefanie Witt, Florian Innig, Inês Alves, Chiara Provasi, Marco Sessa, Klaus Mohnike, Klaus Mohnike, Julia Quitmann, Julia Quitmann   +11 more
doaj   +1 more source