Short Stature Group Research Articles

Height status matters for risk of mortality in critically ill children

BackgroundAnthropometric measurements are crucial in pediatric critical care, but the impact of height on ICU outcomes is underexplored despite a substantial number of short-for-age children in ICUs. Previous studies suggest that short stature increases the risk of poor clinical outcomes. This study examines the relationship between short stature and ICU outcomes.MethodsWe conducted a retrospective cohort study using a Japanese nationwide database (the Japanese Intensive Care Patient Database; JIPAD), which included pediatric patients under 16 years admitted to ICUs from April 2015 to March 2020. Height standard deviation scores (SD scores) were calculated based on age and sex. Short-stature patients were defined as height SD score < − 2. The primary outcome was all-cause ICU mortality, and the secondary outcome was the length of stay in ICU.ResultsOut of 6,377 pediatric patients, 27.2% were classified as having short stature. The ICU mortality rate was significantly higher in the short-stature group compared to the normal-height group (3.6% vs. 1.4%, p < 0.01). Multivariable logistic regression showed that short stature was independently associated with increased ICU mortality (OR = 2.73, 95% CI 1.81–4.11). Additionally, the Fine–Gray subdistribution hazards model indicated that short stature was associated with a lower chance of ICU discharge for each additional day (HR 0.85, 95% CI 0.81–0.90, p < 0.01).ConclusionsShort stature is a significant risk factor for increased ICU mortality and prolonged ICU stay in critically ill children. Height should be considered in risk assessments and management strategies in pediatric intensive care to improve outcomes.

Robust growth hormone responses to GH-releasing peptide 2 in adolescents.

GH-releasing peptide-2 (GHRP2) can be used for provocative growth hormone testing (GHT). Since it acts as a powerful stimulus for GH secretion, cut-off peak GH level in GHRP2 loading test (GHRP2T) is higher than in other GHT. Nevertheless, data on response at adolescents are limited. This report aimed to investigate peak GH levels in GHRP2T in adolescents. Clinical data of adolescents after onset of puberty who underwent GHRP2T at our institution from May 2010 to March 2023 were collected retrospectively. Subjects were classified into three groups according to underlying diseases. A total of 23 patients were included: 12 in organic or genetic GHD (o/gGHD) group, three in idiopathic GHD (iGHD) group, and eight in short stature (SS) group. The median GH peak levels were 3.4 ng/mL in o/gGHD group, 88.9 ng/mL in iGHD group, and 90.1 ng/mL in SS group, indicating a robust response of GH peak levels in iGHD and SS groups. Two patients exceeded the cut-off for GHRP2T but below for other GHT, indicating the current cut-off for GHRP2T may miss some GHD patients. The GH response to GHRP2T in adolescents except the o/gGHD group may be robustly responsive. For the correct diagnosis of GHD, the cut-off peak GH levels in GHRP2T in adolescents may require revisiting.

Additive association of blood pressure and short stature with stroke incidence in 450,000 Japanese adults: the Shizuoka study.

Short stature was suggested to be a risk factor for cardiovascular events. Because short stature increases central blood pressure, this study aimed to investigate a longitudinal association between short stature, blood pressure, and incidence of cardiovascular disease by the analysis of insurance-based real-world dataset. We analyzed data from 463,844 adults aged 40 or older with a mean age of 66.7 enrolled in National Health Insurance, excluding individuals who experienced a stroke or myocardial infarction, or required long-term care. Data from annual health checkups were used to obtain baseline clinical information. Comorbidities and incidences of stroke and myocardial infarction were obtained from the insurance data. During a 5.5-year follow-up period, we observed 11,027 cases of stroke. Adults of a short stature exhibited a higher incidence rate in both men (≤155 cm: 99.7, >175 cm: 24.4) and women (≤140 cm: 85.9, >160 cm: 13.7). Although those in the short stature group had higher blood pressure, and often took antihypertensive drugs, the inverse association between height and stroke incidence was independent of these factors (hazard ratio for 5 cm shorter in height; men: 1.06 [1.03-1.09], women: 1.11 [1.06-1.13]). Short stature and blood pressure showed additive association with stoke incidence (log-rank p < 0.001). No significant association was observed with myocardial infarction (men: 1.01 [0.95-1.06], women: 1.06 [0.98-1.14]). In a longitudinal analysis of a large general Japanese population, short stature was linked to an increased risk of stroke in both genders in any blood pressure range.

Association of Maternal Height with Mode of Delivery and Perinatal Outcome

Background: Maternal height has been for long a contributory anthropometric factor that can determine the obstetric outcome. There is always a need of a consistent, reliable, and simple risk indicator which is easy to use for preventing unnecessary complications in a country like India where often antenatal care is provided by dais in rural areas. The background of this research aims to ascertain the relationship between maternal height and mode of delivery based on other intrapartum factors which influence labor and consequent maternal and neonatal outcome. Materials and Methods: All primigravidae at term gestation (&gt;37 weeks) with cephalic presentation on admission to labor suite with no other comorbidities were recruited in the study. Their mode of delivery, maternal outcome, along with neonatal outcome was documented. Results: Out of the 680 patients, 104 patients are considered for the short-stature group (15.29%) who were &lt;150 cm in height. Other group comprised patients who were &gt;150 cm in height, a total of 576 (84.71%). There was a higher incidence of induced labor in the study group (66.35%) and emergency lower-segment cesarean section done due to cephalopelvic disproportion (CPD) (60%) was also higher among the short-stature group. The incidence of normal labor (32.99%) was higher in the tall-stature group. Conclusion: Short height (&lt;150 cm) is an independent risk factor for cesarean delivery due to CPD. Statistical correlation was found between mothers of short stature and babies being born with low birth weight. As labor is influenced by multiple factors, it is fair enough to give a trial of labor for short primigravidae except in uncommon circumstances.

Exome Sequencing Identifies Multiple Genetic Diagnoses in Children with Syndromic Growth Disorders

To evaluate the presence of multiple genetic diagnoses in syndromic growth disorders. We carried out a cross-sectional study to evaluate 115 patients with syndromic tall (n=24) or short stature (n=91) of unknown cause from a tertiary referral center for growth disorders. Exome sequencing was performed to assess germline single nucleotide, InDel, and copy number variants. All variants were classified according to ACMG/AMP guidelines. The main outcome measured was the frequency of multiple genetic diagnoses in a cohort of children with syndromic growth disorders. The total diagnostic yield of the cohort was 54.8% (63/115). Six patients had multiple genetic diagnoses (tall stature group=2; short stature group=4). The proportion of multiple diagnoses within total cases was 5.2% (6/115), and within solved cases was 9.5% (6/63). No characteristics were significantly more frequent when compared with patients with single or multiple genetic findings. Among patients with multiple diagnoses, 3 had syndromes with overlapping clinical features, and the others had syndromes with distinct phenotypes. Recognition of multiple genetic diagnoses as a possibility in complex cases of syndromic growth disorders opens a new perspective on treatment and genetic counseling for affected patients, defying the medical common sense of trying to fit all findings into one diagnosis.

Beyond Growth Hormone: Association of Short Stature Types and Growth Hormones With Scoliosis.

Cross-sectional and retrospective cohort study. We investigated the effect of 3 types of short stature [partial growth hormone deficiency (GHD), GHD, and idiopathic short stature (ISS)] and recombinant human growth hormone (rhGH) therapy on scoliosis. In short stature, rhGH is widely used and the concentration of growth hormone varies among types. The epidemiologic characteristics of scoliosis and the role of rhGH in scoliosis remain unclear. A cross-sectional study was conducted among 3896 patients with short stature (partial GHD, GHD, and ISS), and a 1:1 age and sex-matched control group with preexisting whole-spine radiographs. The cohort study included 2605 subjects who underwent radiography more than twice to assess scoliosis development, progression, and the need for bracing and surgery. Adjusted logistic regression was used to assess differences in the prevalence of scoliosis among patients with partial GHD, GHD, ISS, and controls. The Kaplan-Meier method was used to analyze the time course of scoliosis development and progression. Cox regression was applied to assess the independent factors related to scoliosis development and progression. Mendelian randomization analyses were also performed. Compared with controls, patients with short stature had a higher incidence of scoliosis (34.47% in partial GHD, 31.85% in GHD, 32.94% in ISS vs . 8.83% in control, P < 0.001), a higher risk of scoliosis development [hazard ratio (HR) = 1.964 in partial GHD, P < 0.001; HR = 1.881 in GHD, P = 0.001; HR = 1.706 in ISS, P = 0.001), but not a higher risk of progression, brace, or surgery. Among the 3 types of short stature, there were no differences in the incidence, development, and progression of scoliosis or the need for bracing or surgery. RhGH treatment increased the risk of scoliosis development in each short-stature group (HR = 2.673 in partial GHD, P < 0.001; HR = 1.924 in GHD, P = 0.049; HR = 1.564 in ISS, P = 0.004). Vitamin D supplementation was protective against scoliosis development (HR = 0.456 in partial GHD, P = 0.003; HR = 0.42 in GHD, P = 0.013; HR = 0.838 in ISS, P = 0.257). More attention should be paid to the spinal curve in patients with partial GHD, GHD, or ISS. For short stature treated with rhGH, the risk of scoliosis development was increased. Vitamin D supplementation may be beneficial for prevention. Level III.

Association of Pooled Fecal Microbiota on Height Growth in Children According to Enterotypes.

The association between fecal microbiota and height in children has yielded conflicting findings, warranting further investigation into potential differences in fecal bacterial composition between children with short stature and those of standard height based on enterotypes (ETs). According to the height z score for age and gender, the children were categorized into normal-stature (NS; n = 335) and short-stature (SS; n = 152) groups using a z score of -1.15 as a separator value. The human fecal bacterial FASTA/Q files (n = 487) were pooled and analyzed with the QIIME 2 platform with the National Center for Biotechnology Information alignment search tool. According to ETs, the prediction models by the machine learning algorithms were used for explaining SS, and their quality was validated. The proportion of SS was 16.4% in ET Enterobacteriaceae (ET-E) and 68.1% in Prevotellaceae (ET-P). The Chao1 and Shannon indexes were significantly lower in the SS than in the NS groups only in ET-P. The fecal bacteria related to SS from the prediction models were similar regardless of ETs. However, in network analysis, the negative correlations between fecal bacteria in the NS and SS groups were much higher in the ET-P than in the ET-E. In the metagenome function, fecal bacteria showed an inverse association of biotin and secondary bile acid synthesis and downregulation of insulin/insulin-like growth factor-1-driven phosphoinositide 3-kinase Akt signaling and AMP-kinase signaling in the SS group compared with the NS group in both ETs. The gut microbial compositions in children were associated with height. Strategies to modify and optimize the gut microbiota composition should be investigated for any potential in promoting height in children.

Do neonatal birth weight thresholds for labor dystocia outcomes differ between short and normal stature women?

To determine if there is a correlation between maternal short stature and neonatal birth weight among women with adverse outcomes related to labor dystocia. The medical records of singleton deliveries with adverse obstetric outcomes related to labor dystocia during 2014-2020, in a single tertiary center, were reviewed. Outcomes included at least one of the following: cesarean delivery (CD) due to cephalopelvic disproportion (CPD), prolonged second stage, shoulder dystocia, third- or fourth-degree perineal tear. Maternal short stature was defined as height below the 10th centile (short stature group) and normal stature was defined as maternal height between the 10th and 90th centiles (normal stature group). Maternal and neonatal characteristics were compared between the groups. A total of 3295 women were included, among them, 307 in the short stature group (9.3%, height 1.52 ± 0.02 m) and 2988 in the normal stature group (90.7%, height 1.63 ± 0.04 m). Evaluating the entire cohort revealed similar neonatal birth weights comparing the short and normal stature groups. A subgroup analysis of women after CD due to CPD (n = 296) revealed lower neonatal birth weights in the short stature group (n = 31) compared with the normal stature group (n = 265) (3215 ± 411 vs 3484 ± 427 g, P = 0.001, respectively). Multivariable linear regression was performed for women who underwent CD due to CPD. After adjusting for obesity and diabetes mellitus, short stature and nulliparity were found to be independently associated with decreased neonatal birth weight (266 g less for short stature, P = 0.001, and 294 g less for nulliparity, P = 0.001). Among women with short stature, CD due to CPD occurs at lower neonatal birth weights.

Quadriceps Angle Measurement in Adolescents With Short Stature: Exploring the Relationship Between Postural Alignment and Lower Limb Mechanics.

Background The quadriceps angle (Q angle) is measured as an angle formed by two lines that extend from the anterior superior iliac spine to the midpoint of the patella and from the midpoint of the patella to the tibial tuberosity. The average Q angle value for children aged between seven to 12 years was 13.1˚±3.5˚in boys and 13.7˚±4.9˚ in girls, whereas 8˚-15˚ in men and 12˚-19˚ in women. Abnormal variation in Q angle is associated with patellofemoral pain syndrome, lateral patellar malposition, dislocation, chondromalacia patella, patella alta, genu varum, etc. Methodology The present study explores the status of Q angle values among adolescents with short stature and their comparison with age and gender-matched children between 10 and 15 years of age. Results We found a statistically significant difference between the Q angle value in the control group and the male with short stature group aged 14-15 years, with a mean difference of 3.7˚. However, among females, there was a significant difference between the control group and the short-stature group aged 12-13 and 14-15 years, with a mean difference of 2.8˚ and 2.5˚, respectively. Implications Early detection and timely remedial measures, e.g., quadriceps strengthening exercises, before skeleton maturity can prevent Q angle-related misalignments and abnormalities in the limb.

The problem of a child with short stature in the paediatrician’s and family doctor’s office

Height and weight measurements are an important element of every child’s visit to the paediatrician’s or family doctor’s office. Short stature is defined as a height below the 3rd percentile for age and sex. It is important to identify children in the short stature group (3% of the population) whose short height is not due to familial factors and therefore requires treatment. Correct measurement of the child’s height followed by its plotting onto a sex- and age-appropriate percentile chart is the first step to identify the problem of short stature in a child. This should be followed by determining the target height and growth rate. Therefore, regular updating of child’s medical record book is of key importance. Diagnostic work-up is needed in children with height below the 3rd percentile or with height difference of more than 2 percentile channels compared to the mean parental height, as well as in children with excessively slow growth rate (indicated by progressive decrease of percentile height position).

PSAT108 Impact of recombinant human growth hormone (rhGH) on skeletal muscle strength, power, endurance and agility in prepubertal boys with significant short stature: preliminary results

Abstract Objectives To investigate the impact of rhGH on measures of skeletal muscle strength, power, endurance, agility, and lean body mass accrual in prepubertal boys with significant short stature compared to age-matched healthy controls growing normally. Methods 40 prepubertal boys were recruited, 25 with significant short stature -either isolated GH deficiency or idiopathic (mean (SE) age: 8.9±0.3yrs; HT SDS: -2.3±0.1) and 15 normally growing healthy controls (age: 8.8±0.4yrs; HT SDS: -0.3±0.2). All had testing at baseline including anthropometry, blood, DEXA scan (body composition), and indirect calorimetry (resting energy expenditure (REE)). Protocolized muscle function tests were performed by expert personnel including measures of skeletal muscle strength (isokinetic dynamometry (flexion/extension) upper and lower extremities), power (vertical jump), endurance (modified push-ups), and agility (timed shuttle-runs). Boys with short stature were started on daily rhGH (Norditropin®, 0.3mg/kg/w) and baseline studies repeated identically in all at 6 and 12 months. Mixed effects model ANOVA (and 2 sample t-test) was used to compare main outcomes over time between groups (significance p ≤0.05). Results Baseline N=40, 6 months N=34, 12 months N=27 participants thus far. All grew well and remained prepubertal throughout the study. At baseline, there were measurable differences in fat free mass (FFM) between groups: short stature: 15.9±0.5kg, controls: 20.4±1.1 (p=0.001); both groups gained FFM at 12 months, short stature group gained 27.3% (p&amp;lt;0.001) vs. controls 10.7% (p&amp;lt;0.001) (p&amp;lt;0.001 between groups). Measures of agility and power were comparable at baseline between groups, agility improved by 12 months 5.5% in the rhGH-treated group (p=0.007) vs. 2.7% in controls (p=0.178) (p=0.157 between groups); measures of power improved 9.1% in the rhGH-treated group (p=0.001) vs. 3.8% in controls (p=0.386) at 12 months (p&amp;lt;0.258 between groups). There were significant differences between groups in muscle strength at baseline, lower particularly in elbow flexion (biceps) in the short stature group: 79.7±3.7 Newtons vs. controls: 97.6±5.5 (p=0.008), and knee flexion (hamstrings): 82.6±3.4 Newtons vs. 95.7±3.2 (p=0.013). At 12 months the rhGH-treated group improved biceps strength (25.7%, p&amp;lt;0.001), vs. controls (12.5%, p=0.008) (p=0.019 between groups); whereas hamstrings strength improved comparably at 12 months in the rhGH-treated group (24.1%, p=0.008) vs. controls (28.0%, p=0.01) (p=0.79 between groups). Measures of endurance (modified push-ups) at baseline were 17.5±1.5 reps in the short stature group vs. 24.9±3.3 in controls (p=0.057), improving in the rhGH-treated (63%, p&amp;lt;0.001) vs. controls (43%, p=0.07) at 12 months (p=0.959 between groups). There were no significant differences in REE (kcal/kg/d) between groups during 12 months. Conclusion There are significant differences in FFM and skeletal muscle strength and endurance in prepubertal boys with severe short stature compared to healthy age-matched controls. FFM accrual and isokinetic measures of muscle strength, endurance, agility and power improve after 12 months of rhGH, changes approaching measures of those of healthy controls. Presentation: Saturday, June 11, 2022 1:00 p.m. - 3:00 p.m.

Clinical and Genetic Profile of Children With Short Stature Presenting to a Genetic Clinic in Northern India

To define the spectrum of genetic disorders in patients with short stature visiting the genetic out-patientdepartmentin a tertiary care hospital. A chart review was done for 455 individuals (10 months-16 yrs) with short stature, who were evaluated at the genetic clinic from 1 January, 2017 upto 31 October, 2018. 226 patients who needed detailed evaluation, the spectrum of genetic diagnosis is presented. Proportionate short stature was identified in 63% individuals (n=142) of which 93 (65%) were recognizable syndromes such as Turner syndrome, and William syndrome, and RASopathies. In clinically undefined syndromes (39, 27%), a diagnosis could be made by karyotype (n=3/10), chromosomal microarray (6/12) and exome sequencing (1/6). In the 84 children in the disproportionate short stature group (37%), lysosomal storage disorders (LSDs) (45%, n=38) were identified by enzyme analysis in 86.8% and skeletal dysplasias (44%, n=37) identified by skeletal survey in 89% cases. In undefined syndromic short stature, chromosomal microarray may be the first investigation of choice if phenotyping is not suggestive of a specific genetic syndrome. Exome sequencing can be useful in identifying newer genes among idiopathic and familial short stature cohorts.

Altered DNA methylation at age-associated CpG sites in children with growth disorders: impact on age estimation?

Age estimation based on DNA methylation (DNAm) can be applied to children, adolescents and adults, but many CG dinucleotides (CpGs) exhibit different kinetics of age-associated DNAm across these age ranges. Furthermore, it is still unclear how growth disorders impact epigenetic age predictions, and this may be particularly relevant for a forensic application. In this study, we analyzed buccal mucosa samples from 95 healthy children and 104 children with different growth disorders. DNAm was analysed by pyrosequencing for 22 CpGs in the genes PDE4C, ELOVL2, RPA2, EDARADD and DDO. The relationship between DNAm and age in healthy children was tested by Spearman’s rank correlation. Differences in DNAm between the groups “healthy children” and the (sub-)groups of children with growth disorders were tested by ANCOVA. Models for age estimation were trained (1) based on the data from 11 CpGs with a close correlation between DNAm and age (R ≥ 0.75) and (2) on five CpGs that also did not present significant differences in DNAm between healthy and diseased children. Statistical analysis revealed significant differences between the healthy group and the group with growth disorders (11 CpGs), the subgroup with a short stature (12 CpGs) and the non-short stature subgroup (three CpGs). The results are in line with the assumption of an epigenetic regulation of height-influencing genes. Age predictors trained on 11 CpGs with high correlations between DNAm and age revealed higher mean absolute errors (MAEs) in the group of growth disorders (mean MAE 2.21 years versus MAE 1.79 in the healthy group) as well as in the short stature (sub-)groups; furthermore, there was a clear tendency for overestimation of ages in all growth disorder groups (mean age deviations: total growth disorder group 1.85 years, short stature group 1.99 years). Age estimates on samples from children with growth disorders were more precise when using a model containing only the five CpGs that did not present significant differences in DNAm between healthy and diseased children (mean age deviations: total growth disorder group 1.45 years, short stature group 1.66 years). The results suggest that CpGs in genes involved in processes relevant for growth and development should be avoided in age prediction models for children since they may be sensitive for alterations in the DNAm pattern in cases of growth disorders.

Very Short Stature Predicts Morbidity and Mortality After Heart Transplant

<h3>Purpose</h3> Short stature has been linked to increased transplant waitlist times and operative mortality after heart surgery. We aim to describe the relationship between stature and heart transplant outcomes. <h3>Methods</h3> The United Network for Organ Sharing was queried for data on adult heart transplant recipients from 2000 to 2021. Recipients were stratified into five groups by height: very short stature (height ≥2 standard deviations [SD] below the mean), short stature (≥1 and <2 SD below the mean, average stature (within 1 SD of the mean), tall stature (≥1 and <2 SD above the mean), and very tall stature (≥2 SD above the mean). Morbidity was analyzed using Kruskal-Wallis and chi square tests. Mortality was analyzed using Kaplan-Meier estimation, log-rank tests, and Cox regression. <h3>Results</h3> 2,033 (4.3%) heart transplant recipients from 2000 to 2021 had very short stature, 8,551 (18.0%) had short stature, 5,783 (12.2%) had tall stature and 667 (1.4%) had very tall stature. The very short stature group was younger, more commonly female, weighed less, had higher rates of congenital heart disease and restrictive cardiomyopathy, lower rates of pre-transplant mechanical ventilation, and lower serum creatinine than other groups (p<0.05). The very short stature group had increased 30-day mortality (8.1%, p<0.001), rejection rate (31.4%, p<0.001), postoperative stroke rate (3.9%, p=0.015), and median length of stay (16 days, p<0.001). Five-year survival rates ranged from 72.8% to 79.4% with the lowest in very short stature patients (p<0.001; Figure 1). On Cox regression, very short stature and short stature were associated with five-year mortality (HR 1.4, p<0.001 and HR=1.2, p<0.001 respectively), but donor/recipient height mismatch, weight mismatch, and predicted heart mass mismatch were not (HR 1.1, p=0.194; HR=1.0, p=0.709; and HR 1.0, p=0.772 respectively). <h3>Conclusion</h3> Very short stature is associated with increased morbidity and mortality after heart transplant. The mechanism explaining this effect requires further study.

Common Polymorphisms of Growth Hormone: Growth Hormone Receptor Axis in Turkish Children with Short Stature.

Objective: A single-nucleotide polymorphism of the growth hormone 1 gene, GH1IVS4+90A>T (rs2665802), associated with short stature and a polymorphism of the growth hormone receptor gene, exon 3 deleted variant, associated with increased responsiveness to growth hormone have been reported previously. We aimed to investigate the frequency of both polymorphisms and their correlation to height in Turkish short children. Also, we aimed to evaluate the effect of exon 3 deleted variant on response to 1-year growth hormone therapy.Materials and Methods: Children with idiopathic isolated growth hormone deficiency (n = 39) and with idiopathic short stature (n = 10) and 50 control subjects were evaluated for anthropometric parameters, annual growth velocity, and annual height gain. Growth hormone receptor gene polymorphisms were analyzed via multiplex polymerase chain reaction; growth hormone 1 gene polymorphism was analyzed via polymerase chain reaction and single-strand conformation polymorphism techniques.Results: The frequency of genotypes carrying the “A” allele was not significantly higher in the idiopathic isolated growth hormone deficiency group than in the idiopathic short stature and control groups (P = .03 for each). The exon 3 deleted variant genotype was significantly lower in the idiopathic short stature group compared to the control group (P = .01). There was no effect of exon 3 deleted variant, on response to the first-year growth hormone therapy.Conclusion: In Turkish population, no correlation was found between the “A” allele of GH1IVS4+90A>T polymorphism and idiopathic isolated growth hormone deficiency and short stature, and a significant negative correlation was found between exon 3 deleted variant and idiopathic short stature and short stature. Exon 3 deleted variant has no effect on response to growth hormone treatment.

Body composition in preschool children with short stature: a case-control study

BackgroundShort stature is defined as height below 2 standard deviations of the population with the same age, gender. This study is aimed to assess the characteristics of body composition in preschool children with short stature.MethodsAnthropometric measurements and body composition were assessed in 68 preschool children aged 3 to 6 years old with short stature and 68 normal controls matched on age and gender. Height, weight and body composition (total body water, protein, minerals, body fat mass, fat-free mass, soft lean mass, skeletal muscle mass, and bone mineral contents) in the two groups were measured and compared.ResultsThe total body water, protein, minerals, body fat mass, fat-free mass, soft lean mass, skeletal muscle mass, and bone mineral contents were lower in preschool children with short stature than controls (P < 0.05). Body mass index and fat mass index did not differ between groups. Fat-free mass index was significantly lower in short stature group than controls (t = 2.17, P = 0.03). Linear regression analysis showed that there was a positive correlation between height and fat-free mass index [β, 1.99 (0.59, 3.39), P = 0.01], a negative correlation between height and body fat percentage [β, − 0.20 (− 0.38, − 0.01), P = 0.04]. The proportions of fat-free mass in the upper limbs were significantly lower (Right,t = − 2.78,Left t = − 2.76, P < 0.05, respectively) in short stature, although body fat distribution was not.ConclusionsThe fat-free mass such as protein and bone minerals is lower in preschool children with short stature, suggesting the monitoring of fat-free mass for early identification and intervention.

The Relationship Between Children's Birth Time and Short Stature.

BackgroundThere are few current reports on the relationship between time of birth and short stature in children. Therefore, we aimed to investigate whether there is an association between time of birth and short stature in children.Materials and MethodsIn this study, basic information was collected from 462 children aged 2–14 years old. We collected data on gender, height, height standard deviation score (SDS), weight, body mass index (BMI), serum 25(OH)D levels, date of birth, and whether the above children were short stature. Demographic description, univariate analysis, multivariate logistic regression analysis, smooth curve fitting, and threshold effects were used to explore possible linear or non-linear relationships between children's birth time and short stature.ResultsThe mean age of the 462 children was 9.76 ± 3.10 years old, and 52.16% were male. A total of 129 (27.92%) children were defined as 25(OH)D insufficiency, including 107 (38.91%) in the short stature group and 22 (11.76%) in the normal stature group. Fully adjusted logistic regression showed that the risk of short stature was reduced by 56.5% in children born in summer compared with spring (P < 0.05) [odds ratio (OR): 0.435, 95% confidence interval (CI): 0.197–0.959]. A non-linear relationship was found between “sequential day of the year” and short stature from the 1st to the 250th day of the year, the risk of short stature in children is reduced by 0.6% for each day that passes (P = 0.002) (OR: 0.994, 95% CI: 0.990–0.998), and from the 250th to the 365th day of the year, the risk of short stature in children was increased by 0.8% for each day that passed (P = 0.008) (OR: 1.008, 95% CI: 1.001–1.025).ConclusionsChildren born in summer have a lower risk of short stature than spring. For children born before the 250th day of the year, “sequential day of the year” was negatively associated with short stature, and for children born after the 250th day, “sequential day of the year” was positively associated with short stature.

Brachydactyly Type A3 Is More Commonly Seen in Children With Short Stature But Does Not Affect Their Height Improvement by Growth Hormone Therapy.

IntroductionTo analyze the prevalence of brachydactyly type A3 (BDA3) in children with short stature and the effect on growth hormone (GH) therapy.MethodsWe analyzed the medical records of pediatric patients from July 2009 to July 2021. We included children with short stature defined as their height standard deviation score (HtSDS) < -2 and normal short height as their HtSDS between -2 and -1. We calculated the prevalence of BDA3 in different groups and compared the differences in children’s characteristics and the therapeutic effect of GH therapy between the BDA3 and no BDA3 groups.ResultsA total of 752 cases were included. The overall prevalence of BDA3 was 23.1%; with a female predominance (30.8% vs. 16.1%, P < 0.01). BDA3 was more prevalent in the short stature group (27.2%) than in the normal short stature group (16.7%) and growth hormone deficiency group (16.5%). Birth length, birth weight, HtSDS, and mid-parental height of children with BDA3 were lower than those without BDA3, but there were no significant differences. In patients with Turner syndrome and idiopathic short stature, the HtSDS of the BDA3 group was significantly lower than that of the no BDA3 group (P < 0.01). During four years of GH therapy, the HtSDS improvement per year in the BDA3 group were 0.79 ± 0.29, 0.50 ± 0.31, 0.20 ± 0.30, and 0.10 ± 0.22, which were not significantly different from those in the no BDA3 group. At the end of treatment, there were no significant differences in the duration of treatment and total HtSDS improvement between these two groups.ConclusionsBDA3 is more commonly seen in children with short stature with a female predominance. BDA3 occurrence is independent of the GH pathway and does not affect the therapeutic effect of GH on short stature children.

Vocal Characteristics of Children With Short Stature Before and After Growth Hormone Treatment

To evaluate the vocal characteristics of children with short stature before and 12 months after growth hormone treatment. This analytical, observational cohort study included 23 children (age 5-11 years) diagnosed with short stature. Children in the short stature group (SSG) were matched (1:1) for age and sex with children with normal growth (normal stature group; NSG). Participants in the SSG underwent assessments before and 12 months after growth hormone treatment, while those in the NSG underwent the same assessments at baseline and 12 months. The assessments included evaluation of (A) vocal characteristics (history, vocal self-assessment, auditory-perceptual evaluation, and acoustic analysis), (B) anthropometry, (C) bone age, and (D) measurement of insulin-like growth factor-1 (IGF-1) levels. Children in the SSG had more vocal complaints (P = 0.026) than those in the NSG. The groups were similar in terms of vocal self-assessment and auditory-perceptual evaluation (P = nonsignificant). Results of acoustic analysis were also similar for fundamental frequency (F 0) and perturbation measures (P for both = nonsignificant). F 0 and speech frequency decreased significantly at 12 months in both groups. F1 values were higher at 12 months in the NSG, while F2 values were significantly higher in the baseline evaluation in boys in the SSG. Children in the SSG compared with those in the NSG presented a greater increase in height measurements at 12 months, although the anthropometric means were lower in both evaluations (P < 0.001). Vocal characteristics in children with short stature before and after treatment with growth hormone are comparable to those in children with normal growth.

Anthropometric parameters of idiopathic familial short stature females and its correlation with height and comparison with the control group

Introduction: Familial Short stature is considered one of the most common causes of Short Stature along with the constitutional delay in growth and puberty (CDGP) from which it can easily be distinguish. The core parameters of anthropometry represent diagnostic criteria for obesity and other non-communicable diseases. To measure the anthropometric parameters in the patients with idiopathic clinically non-syndromic familial short-stature and to correlate those parameters with their height and compare them with the control group. Material and Methods: A cross-sectional study was conducted among Familial Short Stature females of 5-18 years age group referred from Paediatric and Genetic OPD of AIIMS, Rishkesh. Non-parametric tests were applied for comparing the variables and correlation coefficients were obtained. Results: There was a significant difference between the groups in terms of Standing Height (cm) (W = 376.000, P = <0.001), BMI (Kg/m2) (W = 1128.500, P = 0.002), with the median BMI (Kg/m2) and Waist/Height Ratio (W = 1164.500, P = <0.001), with the median Waist/Height Ratio being highest in the Short-Stature group. There was moderate to strong positive correlation between standing height and other anthropometric parameters. The mean waist to height ratio of 0.6 among short stature and 0.5 among the control group, with short stature having more odds of getting overweight and also shows a greater predilection of short-stature group for developing Cardio-vascular diseases. Discussion and Conclusion: Familial short stature though being a manifestation of some underlying cause, can fall in a non-syndromic group until further studies including karyotyping, next-generation sequencing etc. Extensive research for appropriate categorization and how this can effectively help combat the burden of malnutrition and non-communicable diseases should be done.