Prevalence of copy number variants (CNVs) and rhGH treatment efficacy in an Italian cohort of children born small for gestational age (SGA) with persistent short stature associated with a complex clinical phenotype

2021 ◽  
Author(s):  
E. Inzaghi ◽  
A. Deodati ◽  
S. Loddo ◽  
M. Mucciolo ◽  
F. Verdecchia ◽  
...  
Keyword(s):  
Short Stature ◽  
Gestational Age ◽  
Small For Gestational Age ◽  
Treatment Efficacy ◽  
Copy Number ◽  
Clinical Phenotype ◽  
Copy Number Variants ◽  
Rhgh Treatment ◽  
Italian Cohort

scholarly journals Genome-wide screening of copy number variants in children born small for gestational age reveals several candidate genes involved in growth pathways

2014 ◽  
Vol 171 (2) ◽  
pp. 253-262 ◽  
Author(s):  
Ana P M Canton ◽  
Sílvia S Costa ◽  
Tatiane C Rodrigues ◽  
Debora R Bertola ◽  
Alexsandra C Malaquias ◽  
...  
Keyword(s):  
Short Stature ◽  
Candidate Genes ◽  
Gestational Age ◽  
Small For Gestational Age ◽  
Copy Number ◽  
De Novo ◽  
Copy Number Variants ◽  
Comparative Genomic ◽  
Growth Disorders ◽  
Genomic Regions

BackgroundThe etiology of prenatal-onset short stature with postnatal persistence is heterogeneous. Submicroscopic chromosomal imbalances, known as copy number variants (CNVs), may play a role in growth disorders.ObjectiveTo analyze the CNVs present in a group of patients born small for gestational age (SGA) without a known cause.Patients and methodsA total of 51 patients with prenatal and postnatal growth retardation associated with dysmorphic features and/or developmental delay, but without criteria for the diagnosis of known syndromes, were selected. Array-based comparative genomic hybridization was performed using DNA obtained from all patients. The pathogenicity of CNVs was assessed by considering the following criteria: inheritance; gene content; overlap with genomic coordinates for a known genomic imbalance syndrome; and overlap with CNVs previously identified in other patients with prenatal-onset short stature.ResultsIn 17 of the 51 patients, 18 CNVs were identified. None of these imbalances has been reported in healthy individuals. Nine CNVs, found in eight patients (16%), were categorized as pathogenic or probably pathogenic. Deletions found in three patients overlapped with known microdeletion syndromes (4q, 10q26, and 22q11.2). These imbalances are de novo, gene rich and affect several candidate genes or genomic regions that may be involved in the mechanisms of growth regulation.ConclusionPathogenic CNVs in the selected patients born SGA were common (at least 16%), showing that rare CNVs are probably among the genetic causes of short stature in SGA patients and revealing genomic regions possibly implicated in this condition.

scholarly journals Copy Number Variants in Short Children Born Small for Gestational Age

2014 ◽  
Vol 82 (5) ◽  
pp. 310-318 ◽  
Author(s):  
Jan M. Wit ◽  
Hermine A. van Duyvenvoorde ◽  
Jan B. van Klinken ◽  
Janina Caliebe ◽  
Cathy A.J. Bosch ◽  
...  
Keyword(s):  
Gestational Age ◽  
Small For Gestational Age ◽  
Copy Number ◽  
Copy Number Variants ◽  
Short Children

scholarly journals Prevalence of children born small for gestational age with short stature who qualify for growth hormone treatment

2021 ◽  
Vol 47 (1) ◽  
Author(s):  
Gianluca Tamaro ◽  
Mariagrazia Pizzul ◽  
Giuliana Gaeta ◽  
Raffaella Servello ◽  
Marina Trevisan ◽  
...  
Keyword(s):  
Growth Hormone ◽  
Short Stature ◽  
Gestational Age ◽  
Small For Gestational Age ◽  
Well Being ◽  
Italian Population ◽  
Gh Treatment ◽  
Short Children ◽  
Catch Up ◽  
Rhgh Treatment

Abstract Background Recombinant human growth hormone (rhGH) is approved in Europe as a treatment for short children born small for gestational age (SGA) since 2003. However, no study evaluated the prevalence of SGA children with short stature who qualify for rhGH in Europe so far. This study aimed to investigate in an Italian population the prevalence of children born SGA, of short stature in children born SGA, and of SGA children who qualify for rhGH treatment at 4 years of age. Methods We conducted a population-based study on primary care pediatricians’ databases in Trieste, Italy. Data was collected on 3769 children born between 2004 and 2014. SGA was defined as birth weight and/or birth length ≤ − 2 SDS. Data on height and weight were registered at the closest well-being visit to 1, 2, 3, 4 years of age. Short stature was defined as height ≤ − 2 SDS. Short children born SGA who qualify for rhGH treatment were identified according to Note AIFA #39 criteria (age ≥ 4 years; height ≤ − 2.5 SDS; growth velocity < 50th percentile). Results Full data at birth were available for 3250 children. The SGA prevalence was 3.6% (0.8% SGA for weight, 2.2% SGA for length, 0.6% SGA for both weight and length). The prevalence of short stature among SGA children was 9% at 1 year of age, 6% at 2 years (significantly higher in preterm in the first 2 years), 4% at 3 years, 3% at 4 years (all born at term). At 4 years of age, median height SDS was − 0.52. One child born SGA was eligible for GH treatment (0.8% among SGA children). Conclusions The prevalence in a general pediatric population of children born SGA who qualify for GH treatment was 1:3250. Although the prevalence of SGA in our population was similar to previous studies, catch-up growth was recorded earlier in our sample compared to previous reports, and term babies had late catch-up. Height SDS of children born SGA at 4 years of age was lower than expected (− 0.52 SDS).

Growth status of children and adolescents born small for gestational age at full term in Korea: data from the KNHANES-V

2020 ◽  
Vol 33 (6) ◽  
pp. 743-750
Author(s):  
Ji Hyun Kim ◽  
Dong Ho Kim ◽  
Jung Sub Lim
Keyword(s):  
Short Stature ◽  
Gestational Age ◽  
Small For Gestational Age ◽  
Nationwide Survey ◽  
Population Based ◽  
Full Term ◽  
Stunted Growth ◽  
Growth Status ◽  
Health And Nutrition ◽  
Parental Height

AbstractObjectivesSmall for gestational age (SGA) status is known to show stunted growth and results in short stature in adults. The aim of this study was to describe the current short stature in subjects born SGA in Korea and to assess catch-up growth (CUG) or non-CUG.MethodsWe analyzed data from 3,524 subjects (1,831 male) aged 1–18 years who were born as full-term singletons and who participated in the Fifth Korean National Health and Nutrition Examination Survey (2010–2011).ResultsThe prevalence of SGA was 13.4% (n=471). Subjects born SGA had fathers with shorter height, shorter mother’s height, and mid-parental height than non-SGA subjects (p<0.05 for all). The odds ratios (ORs) for SGA birth of a short statured father and a short statured mother were 2.00 (95% CI; 1.15–3.47) and 2.11 (95% CI; 1.30–3.40), respectively. Among 471 SGA subjects, 28 subjects (5.9%) were non-CUG, which made up 36.4% of all subjects with short stature. The CUG subjects had a higher father's height, mother’s height, mid-parental height, and current BMI (p<0.05 for all). The non-CUG subjects had a higher percentage of fathers being near-short stature (height<10th percentile; 33.3 vs. 12.7%; p=0.008) and mothers being near-short stature (39.3 vs. 13.9%; p<0.001).ConclusionKorean subjects born SGA had a higher risk of current short stature. This population-based nationwide survey also showed that both father’s and mother’s short stature are risk factors of not only SGA birth but also non-CUG in their children.

scholarly journals Delayed Bone Age Might Accelerate the Response to Human Growth Hormone Treatment in Small for Gestational Age Children with Short Stature

2019 ◽  
Vol 2019 ◽  
pp. 1-6
Author(s):  
Jung-Eun Moon ◽  
Cheol Woo Ko
Keyword(s):  
Growth Hormone ◽  
Short Stature ◽  
Gestational Age ◽  
Small For Gestational Age ◽  
Human Growth ◽  
Bone Age ◽  
Pediatric Endocrinology ◽  
Gh Therapy ◽  
Gh Treatment ◽  
The Impact

Purpose. Growth hormone (GH) treatment is recommended to improve growth and psychosocial problems in short stature children born small for gestational age (SGA). Although GH therapy in these patients has been extensively studied, the impact of therapy according to delays in bone age (BA) is not known well. Objective. To investigate the effects of GH therapy in SGA patients with short stature according to BA delay. Methods. We retrospectively analyzed changes in height SD score (SDS) and BA/chronological age (CA) after 6 and 12 months of GH therapy in patients grouped according to BA delay. We studied 27 SGA children with short stature in the pediatric endocrinology clinic of Kyungpook National University Children’s Hospital. Results. Of the 27 patients, 9 had <2 years of BA delay, while 18 had >2 years of delay. There were no significant differences between the two groups in terms of gestational age and weight at birth, height SDS, IGF-1 SDS, and growth hormone dosage at the beginning of therapy. However, height SDS increased significantly in the group with >2 years of BA delay after 6 months of GH therapy (−2.50 ± 0.61 vs −1.87 ± 0.82; p=0.037) and 12 months (−2.27 ± 0.70 vs −1.63 ± 0.65; p=0.002). When height SDS was compared between with and without GHD, there were no significant differences. Conclusions. Delayed BA (>2 years) may impact the response to GH treatment in SGA children with short stature.

scholarly journals Multigene Sequencing Analysis of Children Born Small for Gestational Age With Isolated Short Stature

2019 ◽  
Vol 104 (6) ◽  
pp. 2023-2030 ◽  
Author(s):  
Bruna L Freire ◽  
Thais K Homma ◽  
Mariana F A Funari ◽  
Antônio M Lerario ◽  
Gabriela A Vasques ◽  
...  
Keyword(s):  
Short Stature ◽  
Gestational Age ◽  
Small For Gestational Age ◽  
Sequencing Analysis
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