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Current Opinion in Pediatrics Aug 2021Short stature is a common clinical manifestation in children. Yet, a cause is often unidentifiable in the majority of children with short stature by a routine screening... (Review)
Review
PURPOSE OF REVIEW
Short stature is a common clinical manifestation in children. Yet, a cause is often unidentifiable in the majority of children with short stature by a routine screening approach. The purpose of this review is to describe the optimal genetic approach for evaluating short stature, challenges of genetic testing, and recent advances in genetic testing for short stature.
RECENT FINDINGS
Genetic testing, such as karyotype, chromosomal microarray, targeted gene sequencing, or exome sequencing, has served to identify the underlying genetic causes of short stature. When determining which short stature patient would benefit from genetic evaluation, it is important to consider whether the patient would have a single identifiable genetic cause. Specific diagnoses permit clinicians to predict responses to growth hormone treatment, to understand the phenotypic spectrum, and to understand any associated co-morbidities.
SUMMARY
The continued progress in the field of genetics and enhanced capabilities provided by genetic testing methods expands the ability of physicians to evaluate children with short stature for underlying genetic defects. Continued effort is needed to elaborate new genetic causes of linear growth disorders, therefore, we expand the list of known genes for short stature, which will subsequently increase the rate of genetic diagnosis for children with short stature.
Topics: Body Height; Child; Dwarfism; Genetic Testing; Growth Disorders; Humans; Exome Sequencing
PubMed: 34101704
DOI: 10.1097/MOP.0000000000001033 -
Frontiers in Endocrinology 2021The syndrome of impaired GH secretion (GH deficiency) in childhood and adolescence had been identified at the end of the 19 century. Its non-acquired variant (naGHD) is,... (Review)
Review
The syndrome of impaired GH secretion (GH deficiency) in childhood and adolescence had been identified at the end of the 19 century. Its non-acquired variant (naGHD) is, at childhood onset, a rare syndrome of multiple etiologies, predominantly characterized by severe and permanent growth failure culminating in short stature. It is still difficult to diagnose GHD and, in particular, to ascertain impaired GH secretion in comparison to levels in normally-growing children. The debate on what constitutes an optimal diagnostic process continues. Treatment of the GH deficit replacement with cadaveric pituitary human GH (pit-hGH) had first been demonstrated in 1958, and opened an era of therapeutic possibilities, albeit for a limited number of patients. In 1985, the era of recombinant hGH (r-hGH) began: unlimited supply meant that substantial long-term experience could be gained, with greater focus on efficacy, safety and costs. However, even today, the results of current treatment regimes indicate that there is still a substantial fraction of children who do not achieve adult height within the normal range. Renewed evaluation of height outcomes in childhood-onset naGHD is required for a better understanding of the underlying causes, whereby the role of various factors - diagnostics, treatment modalities, mode of treatment evaluation - during the important phases of child growth - infancy, childhood and puberty - are further explored.
Topics: Adolescent; Body Height; Child; Child Development; Dwarfism, Pituitary; Growth Disorders; History, 19th Century; History, 20th Century; History, 21st Century; Hormone Replacement Therapy; Human Growth Hormone; Humans; Puberty; Time Factors
PubMed: 34539573
DOI: 10.3389/fendo.2021.720419 -
Asian Journal of Andrology 2022Virility and sexual pleasure have long been associated with penile size and this, in turn, has typically been linked to some anthropometric measurements, such as foot... (Observational Study)
Observational Study
Virility and sexual pleasure have long been associated with penile size and this, in turn, has typically been linked to some anthropometric measurements, such as foot size or height, leading to various misconceptions from both men and women. Our intention is to estimate penile size parameters in Argentina and evaluate the correlation between penile size and certain anthropometric measurements. This is a cross-sectional, descriptive, multicenter, and observational study. Male patients who underwent a urological procedure were included in four hospitals located in different regions of the country. Different anthropometric measurements were obtained: height, weight, penile circumference, flaccid and stretched length, and foot length. A total of 800 patients were evaluated. Mean left foot was 26.4 cm. Mean flaccid penile length was 11.4 (95% confidence interval [CI]: 8-14) cm, and mean penile circumference was 10.1 (95% CI: 8-12) cm. Finally, mean stretched penis was 15.2 (95% CI: 11-18.5) cm. We can confirm that estimates of the average penile measurements in Argentina are flaccid penis length of 11.4 cm, penile circumference of 10.1 cm, and stretching the penis to the maximum in flaccidity of 15.2 cm. Correlations between flaccid penis length, stretched out, penile circumference, height, weight, and length of the left foot were evaluated, finding low or no correlation between those mentioned, except for flaccid and stretched length.
Topics: Humans; Male; Female; Prospective Studies; Cross-Sectional Studies; Anthropometry; Penis; Body Height; Reference Values
PubMed: 35381693
DOI: 10.4103/aja2021121 -
International Journal of Epidemiology Aug 2020Height and body mass index (BMI) have both been positively associated with melanoma risk, although findings for BMI have been less consistent than height. It remains... (Meta-Analysis)
Meta-Analysis
BACKGROUND
Height and body mass index (BMI) have both been positively associated with melanoma risk, although findings for BMI have been less consistent than height. It remains unclear, however, whether these associations reflect causality or are due to residual confounding by environmental and lifestyle risk factors. We re-evaluated these associations using a two-sample Mendelian randomization (MR) approach.
METHODS
We identified single nucleotide polymorphisms (SNPs) for BMI and height from separate genome-wide association study (GWAS) meta-analyses. We obtained melanoma SNPs from the most recent melanoma GWAS meta-analysis comprising 12 874 cases and 23 203 controls. We used the inverse variance-weighted estimator to derive separate causal risk estimates across all SNP instruments for BMI and height.
RESULTS
Based on the combined estimate derived from 730 SNPs for BMI, we found no evidence of an association between genetically predicted BMI and melanoma [odds ratio (OR) per one standard deviation (1 SD) (4.6 kg/m2) increase in BMI 1.00, 95% confidence interval (CI): 0.91-1.11]. In contrast, we observed a positive association between genetically-predicted height (derived from a pooled estimate of 3290 SNPs) and melanoma risk [OR 1.08, 95% CI: 1.02-1.13, per 1 SD (9.27 cm) increase in height]. Sensitivity analyses using two alternative MR methods yielded similar results.
CONCLUSIONS
These findings provide no evidence for a causal association between higher BMI and melanoma, but support the notion that height is causally associated with melanoma risk. Mechanisms through which height influences melanoma risk remain unclear, and it remains possible that the effect could be mediated through diverse pathways including growth factors and even socioeconomic status.
Topics: Body Height; Body Mass Index; Genome-Wide Association Study; Humans; Melanoma; Mendelian Randomization Analysis; Polymorphism, Single Nucleotide; Risk Factors; Skin Neoplasms
PubMed: 32068838
DOI: 10.1093/ije/dyaa009 -
Orphanet Journal of Rare Diseases Mar 2021Ataxia telangiectasia (A-T) is a DNA repair disorder that affects multiple body systems. Neurological problems and immunodeficiency are two important features of this...
BACKGROUND
Ataxia telangiectasia (A-T) is a DNA repair disorder that affects multiple body systems. Neurological problems and immunodeficiency are two important features of this disease. At this time, two main severity groups are defined in A-T: classic (the more severe form) and mild. Poor growth is a common problem in classic A-T. An objective of this study was to develop growth references for classic A-T. Another objective was to compare growth patterns in classic A-T and mild A-T with each other and with the general population, using the CDC growth references. A final objective was to examine the effects of chronic infection on height.
RESULTS
We found that classic A-T patients were smaller overall, and suffered from height and weight faltering that continued throughout childhood and adolescence. When compared to the CDC growth references, the median heights and weights for both male and female patients eventually fell to or below the 3rd centile on the CDC charts. Height faltering was more pronounced in females. Birthweight was lower in the classic A-T group compared to mild A-T and the general population, whereas birth length was not. Finally, we investigated height and BMI faltering in relation to number of infections and found no association.
CONCLUSIONS
Classic A-T appears to affect growth in utero. Although children appear to grow well in very early life, faltering begins early, and is unrelenting.
Topics: Adolescent; Ataxia Telangiectasia; Body Height; Body Weight; Child; Female; Growth Disorders; Humans; Male
PubMed: 33691726
DOI: 10.1186/s13023-021-01716-5 -
Frontiers in Endocrinology 2020Humans show marked variation in body size around the world, both within and among populations. At present, the tallest people in the world are from the Netherlands and... (Review)
Review
Humans show marked variation in body size around the world, both within and among populations. At present, the tallest people in the world are from the Netherlands and the Balkan countries, while the shortest populations are central African Pygmies. There are genetic, genetic plasticity, developmental, and environmental bases for size variation in from the recent past and the present. Early populations of species also have shown considerable size variation. Populations from the present and the past are also marked by sexual dimorphism, which, itself, shows group variation. There is abundant evidence for the effects of limited food and disease on human growth and resultant adult body size. This environmental influence has been reflected in "secular trends" (over a span of years) in growth and adult size from socioeconomic prosperity or poverty (availability of resources). Selective and evolutionary advantages of small or large body size also have been documented. Heritability for human height is relatively great with current genome-wide association studies (GWAS) identifying hundreds of genes leading to causes of growth and adult size variation. There are also endocrinological pathways limiting growth. An example is the reduced tissue sensitivity to human growth hormone (HGH) and insulin-like growth factor (IGF-1) in Philippine and African hunter-gatherer populations. In several short-statured hunter-gatherer populations (Asian, African, and South American), it has been hypothesized that short life expectancy has selected for early maturity and truncated growth to enhance fertility. Some island populations of humans and other mammals are thought to have been selected for small size because of limited resources, especially protein. The high-protein content of milk as a staple food may contribute to tall stature in East African pastoral peoples. These and other evolutionary questions linked to life history, male competition, reproduction, and mobility are explored in this paper.
Topics: Adult; Animals; Biological Evolution; Body Height; Body Size; Ethnicity; Genetic Variation; Genome-Wide Association Study; Growth Disorders; Growth and Development; Humans; Mammals; Phenotype
PubMed: 32210916
DOI: 10.3389/fendo.2020.00107 -
Canadian Family Physician Medecin de... Apr 2021
Topics: Body Height; Body Weight; Humans
PubMed: 33853917
DOI: 10.46747/cfp.6704279 -
Indian Heart Journal 2021Atrial fibrillation (AF) is characterized by abnormal heart rhythm. Among other well-known associations, recent studies suggest an association of AF with height. Height... (Review)
Review
Atrial fibrillation (AF) is characterized by abnormal heart rhythm. Among other well-known associations, recent studies suggest an association of AF with height. Height is related to 50 diseases spanning different body systems, AF is one of them. Since AF, a heterogeneous disease process, is influenced by structural, neural, electrical, and hemodynamic factors, height alters this process through its contribution to increasing atrial and ventricular size, leading to altered conduction patterns, autonomic dysregulation, and development of AF. Multiple underlying mechanisms associate height with AF. Apart from these indirect mechanisms, genome-wide association studies suggest the involvement of the same genes in AF and growth pathways. Tall stature is independently associated with a higher risk of AF development in healthy individuals. Since adult height is achieved much earlier than the onset of AF, protective measures can be taken in individuals with increased height to monitor, manage, and prevent the progression of AF.
Topics: Atrial Fibrillation; Body Height; Heart Rate; Humans; Risk Factors
PubMed: 33714405
DOI: 10.1016/j.ihj.2020.11.008 -
Clinical Nutrition ESPEN Dec 2021The Ideal Body Weight (IBW) model has provided dietitians and researchers with a quick method of risk assessment but is known to be imperfect. IBW formulas were...
BACKGROUND & AIMS
The Ideal Body Weight (IBW) model has provided dietitians and researchers with a quick method of risk assessment but is known to be imperfect. IBW formulas were developed from anthropometric measurements of life-insurance policy holders obtained between 1885 and 1908, providing statistics of mortality, organized by sex and age. Actuaries of the U.S. life insurance companies published data on the impact of overweight/obese status and mortality risk. Research of the same era repeatedly revealed either no significance or an inverse relationship. The intent of this text is to draw attention to the complexity and overall discussion of utility of the IBW method.
METHODS
Reviewed relevant literature from the development of IBW through the recent findings in 2014.
RESULTS
Height, weight, and frame fail to consider comorbidities and genetics. IBW formulas assume that weight increases as a linear function of height. Weight has been shown to increase not just as a function of height, but also of volume: body width, trunk length, and musculature. Depending on standards of practice, several equations may be used.
CONCLUSIONS
The IBW model is utilized but not limited to creating enteral and parenteral feeding plans, avoiding malnutrition, aiding weight management, identifying transplant eligibility, and determining inclusion or exclusion from research studies. Socially, the significance around "ideal" can impact a weight-centric mentality and negatively affect a large portion of the population. Every individual has a distinct "ideal" body weight based on genetics, environment and lifestyle, which could be represented and assessed effectively with new tools.
Topics: Body Height; Body Weight; Humans; Ideal Body Weight; Obesity; Parenteral Nutrition
PubMed: 34857204
DOI: 10.1016/j.clnesp.2021.09.746 -
JAMA Network Open Jan 2022Weight-for-height z score (WHZ) is a standard indicator of children's nutritional status even though it does not fully reflect body fat.
IMPORTANCE
Weight-for-height z score (WHZ) is a standard indicator of children's nutritional status even though it does not fully reflect body fat.
OBJECTIVE
To examine the combined association of WHZ and body fat with early development in the East Asia and Pacific region.
DESIGN, SETTING, AND PARTICIPANTS
Children from the East Asia-Pacific Early Child Development Scales validation study, with full data available regarding their nutritional status and outcomes, were included in this cross-sectional analysis. In brief, a multilevel stratified random sampling was used to select representative samples from each participating country in the study. WHZ and body fat were independently trichotomized using established references and were combined to form a 9-category exposure variable. Data collection was performed between 2012 and 2014, and the analyses were conducted in June 2021.
MAIN OUTCOMES AND MEASURES
The binary outcome variable of not being developmentally on track (hereafter referred to as poor development) was defined as a score less than the 25th percentile in the following domains: cognitive, language, socioemotional, motor development, and total development score. Poisson regression models were used to analyze the associations between the combined categories and poor development, adjusted for sociodemographic factors.
RESULTS
A total of 6815 children (mean [SD] age, 4.02 [0.8] years; 3434 girls [50.4%]) had full data available and were included in this study. Compared with children with normal weight and normal fat, those with wasting and low body fat had the highest likelihood of total poor development (prevalence ratio, 1.47; 95% CI, 1.28-1.70), followed by those with normal weight but low fat (prevalence ratio, 1.23; 95% CI, 1.11-1.36). Similar associations were found in language, cognitive, and socioemotional development, but not in motor development.
CONCLUSIONS AND RELEVANCE
Poor development was more commonly found in children with low body fat independent of WHZ (wasted or normal weight). Early public health strategies may consider using a combination of WHZ and body fat as an indicator of poor development.
Topics: Adipose Tissue; Body Height; Body Weight; Child Development; Child, Preschool; Cross-Sectional Studies; Asia, Eastern; Female; Humans; Male; Nutritional Status; Reference Values
PubMed: 34989793
DOI: 10.1001/jamanetworkopen.2021.42458