Genetic evaluation in children with short stature

Zhou, Elaine; Hauser, Benjamin R.; Jee, Youn Hee

doi:10.1097/mop.0000000000001033

Cited by 16 publications

(16 citation statements)

References 33 publications

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“…Certain diseases, health behaviors, and socioeconomic conditions may affect height. Genes have a key role in height; recently, the list of genes associated with short stature has increased (46)(47)(48).…”

Section: Discussionmentioning

confidence: 99%

Comparison of body fat percentage assessments by bioelectrical impedance analysis, anthropometrical prediction equations, and dual-energy X-ray absorptiometry in older women

et al. 2022

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BackgroundIndividuals with high body fat have a higher risk of mortality. Numerous anthropometric-based predictive equations are available for body composition assessments; furthermore, bioelectrical impedance analysis (BIA) estimates are available. However, in older adults, the validity of body fat estimates requires further investigation.ObjectiveTo assess the agreement between percentage body fat (BF%) estimates by BIA and five predictive equations based on anthropometric characteristics using dual X-ray absorptiometry (DXA) as reference method. A secondary objective was to identify whether excluding short-stature women improves the agreement of BF% estimates in a group of community-dwelling, older Mexican women.MethodsA concordance analysis of BF% was performed. A total of 121 older women participated in the study. Anthropometric information, BIA, and DXA body composition estimates were obtained. Five equations using anthropometric data were evaluated in order to determine body fat percentage (BF%) using DXA as reference method. Paired t-test comparisons and standard error of estimates (SEE) were obtained. The Bland-Altman plot with 95% limits of agreement and the concordance correlation coefficient (CCC) were used to evaluate the BF% prediction equations and BIA estimates.ResultsThe mean age of the study participants was 73.7 (±5.8) years old. BIA and the anthropometric based equations examined showed mean significant differences when tested in the entire sample. For the taller women (height > 145 cm), no significant difference in the paired comparison was found between DXA and BIA of BF% estimates. The mean BF% was 40.3 (±4.8) and 40.7 (±6.2) for DXA and BIA, respectively. The concordance between methods was good (CCC 0.814), (SEE 2.62). Also, in the taller women subset, the Woolcott equation using waist-to-height ratio presented no significant difference in the paired comparison; however, the error of the estimates was high (SEE 3.37) and the concordance was moderate (CCC 0.693).ConclusionThis study found that BIA yielded good results in the estimation of BF% among women with heights over 145 cm. Also, in this group, the Woolcott predictive equation based on waist circumference and height ratio showed no significant differences compared to DXA in the paired comparison; however, the large error of estimates observed may limit its application. In older women, short stature may impact the validity of the body fat percentage estimates of anthropometric-based predictive equations.

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Section: Discussionmentioning

confidence: 99%

Comparison of body fat percentage assessments by bioelectrical impedance analysis, anthropometrical prediction equations, and dual-energy X-ray absorptiometry in older women

et al. 2022

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“…Short stature is a prevalent manifestation of endocrine diseases in children. It is defined as a height that is less than 2 SDs from the mean for the respective age and sex . The etiology of short stature is multifactorial and can result from genetic factors, environmental factors (prenatal and postnatal), or a combination of both .…”

Section: Introductionmentioning

confidence: 99%

Molecular Diagnostic Yield of Exome Sequencing and Chromosomal Microarray in Short Stature

Li,

Chen,

Wang

et al. 2023

JAMA Pediatr

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ImportanceCurrently, the diagnostic yield of exome sequencing (ES) and chromosomal microarray analysis (CMA) for short stature cohorts is uncertain. Despite previous studies reporting the widespread use of ES and CMA, a definitive diagnostic yield has not been established.ObjectiveTo investigate the diagnostic yield of ES and CMA in short stature.Data SourcesA systematic literature search was conducted using relevant keywords in 3 databases (PubMed, Embase, and Web of Science) in February 2023.Study SelectionEligible studies for meta-analysis were those that had at least 10 participants with short stature who were diagnosed using either ES or CMA and the number of diagnosed patients was reported. Of 5222 identified studies, 20 were eventually included in the study.Data Extraction and SynthesisTwo independent investigators extracted relevant information from each study, which was then synthesized using proportional meta-analysis to obtain the overall diagnostic yield of ES and CMA.Main Outcomes and MeasuresThe primary outcome measure was to determine the overall diagnostic yield of ES and CMA. A subgroup meta-analysis was also performed to assess if the diagnostic yield varied depending on whether ES was used as a first-tier or last-resort test. Additionally, a meta-regression was carried out to investigate how the diagnostic yield varied over time.ResultsTwenty studies were included, comprising 1350 patients with short stature who underwent ES and 1070 patients who completed CMA. The overall diagnostic yield of ES among the cohorts and CMA among the cohorts was found to be 27.1% (95% CI, 18.1%-37.2%) and 13.6% (95% CI, 9.2%-18.7%), respectively. No statistically significant difference was observed between the first-tier (27.8%; 95% CI, 15.7%-41.8%) and last-resort groups (25.6%; 95% CI, 13.6%-39.6%) (P = .83) or in the percentage of positively diagnosed patients over time. No statistically significant difference was observed between the first-tier (27.8%; 95% CI, 15.7%-41.8%) and last-resort groups (25.6%; 95% CI, 13.6%-39.6%) (P = .83) or in the percentage of positively diagnosed patients over time.Conclusion and RelevanceThis systematic review and meta-analysis provides high-level evidence supporting the diagnostic efficacy of ES and CMA in patients with short stature. The findings serve as a solid reference for clinicians when making informed decisions about recommending these genetic tests.

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“…In fact, it is known that adult height is an inheritable trait and results from the synergic contribution of each polymorphism among the genes associated with linear growth. It has been postulated that every single abnormality of these genes could significantly impair linear growth during childhood, and this is related to short stature ( 1 ). However, only a small proportion of these genes is recognized to be related to growth disorders during childhood.…”

Section: Introductionmentioning

confidence: 99%

Short stature related to Growth Hormone Insensitivity (GHI) in childhood

Mastromauro

Giannini²,

Chiarelli³

2023

Front. Endocrinol.

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Linear growth during childhood is the result of the synergic contribution of different factors. The best growth determinant system during each period of life is represented by the growth hormone–insulin-like growth factor axis (GH–IGF), even if several other factors are involved in normal growth. Within the broad spectrum of growth disorders, an increased importance has been placed on growth hormone insensitivity (GHI). GHI was reported for the first time by Laron as a syndrome characterized by short stature due to GH receptor (GHR) mutation. To date, it is recognized that GHI represents a wide diagnostic category, including a broad spectrum of defects. The peculiar characteristic of GHI is the low IGF-1 levels associated with normal or elevated GH levels and the lack of IGF-1 response after GH administration. Recombinant IGF-1 preparations may be used in the treatment of these patients.

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Genetic evaluation in children with short stature

Cited by 16 publications

References 33 publications

Comparison of body fat percentage assessments by bioelectrical impedance analysis, anthropometrical prediction equations, and dual-energy X-ray absorptiometry in older women

Comparison of body fat percentage assessments by bioelectrical impedance analysis, anthropometrical prediction equations, and dual-energy X-ray absorptiometry in older women

Molecular Diagnostic Yield of Exome Sequencing and Chromosomal Microarray in Short Stature

Short stature related to Growth Hormone Insensitivity (GHI) in childhood

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