Bone Mineral Density In Children Research Articles

Bone mineral density in Canadian children with severe haemophilia A or B: a cross-sectional study

Abstract Background Previous research has shown that bone mineral density (BMD), a measure of bone strength, may be lower among people with haemophilia. However, the majority of this research has been done in adults and in countries where the treatment for haemophilia differs from the standard of care in Canada, and there is a lack of paediatric data. Aims The primary objective of this study was to determine whether Canadian children and youth with severe haemophilia A and B have BMD similar to healthy controls matched for height, age and weight (HAW-score). Secondary objectives included the exploration of any association between BMD and the following variables: factor replacement regimen, Hemophilia Joint Health Score (HJHS), bleeding history, physical activity level, and dietary intake of calcium, vitamin D, vitamin K and protein. Methods A cross-sectional observational study was designed to determine the BMD of children with severe haemophilia A and B in Canada. Ethical approvals were obtained from participating institutions. Thirty-eight participants aged 3–18 with severe haemophilia A and B were recruited from two treatment centres in Canada. Subjects underwent dual-energy X-ray absorptiometry (DXA) scan, and data was collected from regular clinic visit to identify factor replacement regimen, HJHS, and number of joint bleeds over the lifespan. Physical activity level and dietary intake of calcium, vitamin D, vitamin K and protein were identified using self-report questionnaires. Results Participants showed a mean spine BMD Z-score and HAW-score higher than controls, with no participants showing a spine Z-score or HAW-score of <0. Hip BMD score was within normal range, and 2 participants had a Z-score and HAW-score of <−2. Total body BMD score was lower than controls, with 6 participants having a Z-score of <−2.0, and 3 participants having a HAW-score of <−2.0. Factor replacement regimen, HJHS, calcium intake, and physical activity level had no relationship to BMD Z-score or HAW-score. Low intake of vitamin D was associated with a low hip and spine BMD Z-score and HAW-score. Participants with a HJHS joint score greater than 0 had a higher total body HAW-score than those who had a joint score of 0. Conclusion Canadian children with severe haemophilia A and B demonstrate differences in spine and total body BMD from height-, age-, and weight-matched controls, where spine BMD is higher than controls and total body BMD is lower than controls. Studies with a larger sample size are needed to clarify the status of BMD in children with haemophilia treated with primary prophylaxis.

Результаты исследования минеральной плотности костной ткани у детей и подростков с низкоэнергетическими переломами длинных костей

The aim: to determine the initial indicators of bone mineral density in children and adolescents with fractures of long bones, to assess the status of vitamin D. Methods. We studied the data of densitometric and laboratory methods of studying 46 sick children (39 (84.8%) boys and 7 (15.2%) girls) with long bone fractures at the age from 6 to 18 years. Bone mineral density was assessed by the method of dual-energy X-ray absorptiometry on a bone densitometer using the Eurasian regulatory database. Results. In 9 sick children with fractures, osteopenia of the I degree was revealed, in one patient - osteopenia of the II degree, in 5 patients - osteoporosis of the I degree, in the remaining 31 children the indicators of bone mineral density corresponded to normal values. Low calcium levels in 56.4% of boys and 57.1% of girls, along with increased alkaline phosphatase activity in 94.8% of boys and 100% of girls, testified to impaired bone formation. The results showed that 61.5% of boys were deficient and 57.1% of girls were deficient in vitamin D. Conclusion. Low bone mineral density, the presence of hypovitaminosis D in children and adolescents with low-energy fractures, given the importance of these indicators for fracture healing, require correction of the revealed violations: the choice of more gentle treatment methods, the appointment of adequate drug therapy, dynamic monitoring of the effectiveness of the prescribed therapy, and in children with a confirmed diagnosis of osteoporosis - studies of bone mineral density in dynamics. Key words: bone mineral density, low-energy fractures of long bones, hypovitaminosis D, osteoporosis, fractures in children and adolescents, Uzbekistan.

Effect of 6-12 Weeks of Systemic Glucocorticoids on Bone Mineral Density in Children

Introduction: Prolonged use of systemic steroids in children is associated with many side-effects including effect on Bone Mineral Density (BMD). Effect of more than three months of systemic steroids on BMD has been studied in children but not the effect of 6-12 weeks duration of steroid. Aim: To evaluate the effect of 6-12 weeks of systemic glucocorticoids on BMD in children. Materials and Methods: A longitudinal observational study was conducted at a Tertiary Care Hospital. Dual Energy X-ray Absorptiometry (DEXA) of Whole Body (WB), Lumbar Spine (LS) and Distal Radius (DR) were done at baseline, end of steroid therapy or third month whichever was earlier and end of six months, on 30 patients receiving systemic steroid (Nephrotic Syndrome (NS)-7, Systemic Onset Juvenile Idiopathic Arthritis (SOJIA)-12, Tubercular Meningitis-11). Age and sex adjusted values of Bone Mineral Content (BMC), BMD and Z scores were analysed. Bone densitometric parameters of Total Body Less the Head (TBLH) were derived from WB values. X-rays of whole spine (antero-posterior and lateral view) were done at baseline and follow-up. Equal number of age and sex matched healthy controls were subjected to biochemical and DEXA scans at baseline. Continuous and categorical variables were compared using Student’s t-test and Fisher-exact test, respectively. Pairwise comparison over period of time was done using Bonferroni correction. Results: Bone densitometric parameters of cases and controls were comparable at baseline. At follow-up statistically significant decrease in BMD was found at all three sites. A statistically significant negative correlation was found between cumulative dose of steroid and duration of steroid treatment with Z score of TBLH. No vertebral fractures were detected at baseline or follow-up. Conclusion: Use of systemic glucocorticoids for 6-12 weeks negatively affects bone mineralisation, not only during therapy but even three months after stopping it.

EPS2.09 F508del genotype is an independent risk factor for reduced bone mineral density in children with cystic fibrosis

EPS2.09 F508del genotype is an independent risk factor for reduced bone mineral density in children with cystic fibrosis

Vitamin D supplementation for improving children with bone mineral density: A protocol for systematic review and meta-analysis.

Background:Osteoporosis is usually one of the less perceived complications of chronic illness among children. Previous studies have shown that vitamin D supplementation may be valuable to bone density, especially among children with a deficiency of vitamin D. Yet, the results often remain inconsistent. Therefore, the present study investigates the clinical therapeutic effects of vitamin D supplementation to enhance children with bone mineral density.Methods:We will search the randomised controlled experiment literature of vitamin D supplementation for bone mineral density, focusing on children, in 3 distinct English databases (EMBASE, MEDLINE via PubMed, and Cochrane Library) and 2 specific Chinese databases (China National Knowledge Infrastructure (CNKI) and WanFang databases). Additionally, we intend to explore the Clinical Trials.gov, reference lists of identified publication and the grey literature. Accordingly, we will use 2 independent authors to screen the literature, extract data, and research quality assessment. We will carry out all statistical analyses using RevMan 5.3 software.Results:We will systematically evaluate the clinical therapeutic effects of vitamin D supplementation to enhance children with bone mineral density.Conclusion:The present study will summarise the currently published pieces of evidence of vitamin D supplementation for bone mineral density in children to further comprehend its promotion and application.Ethics and dissemination:The present study is a systematic review and meta-analysis founded upon existing or published studies; therefore, ethical approval is not applicable.OSF registration number:October 24, 2020. osf.io/7vtey. (https://osf.io/7vtey/).

Prevalence and predictive factors of undernutrition and low bone mineral density in children with chronic pancreatitis

BackgroundMalnutrition and bone disease are common in adults with chronic pancreatitis (CP). We studied the nutritional status and bone mineral density (BMD) of children with CP and the factors predicting them. MethodsCP children were prospectively evaluated with a detailed questionnaire, anthropometry, 25-hydroxy vitamin D, fecal elastase and BMD [total body less head (TBLH), spine and hip] by dual energy x-ray absorptiometry. Body mass index (BMI) Z score of −1 to −1.9, −2 to −2.9 and <-3 was taken as mild, moderate and severe malnutrition respectively. Low BMD and osteoporosis were defined as per International Society for Clinical Densitometry. Results83 children (46 boys, 14[4.3–21]years) with CP were enrolled. Majority had Cambridge IV (51,62.2%) or III (15,18.3%) changes. 34(41%) had undernutrition (mild-37.3%, moderate-2.4%, severe-1.2%). Overweight and obesity were present in 3.6% and 1.2% cases. BMI had a significant correlation with haemoglobin, serum albumin, percentage body fat and BMD. A majority had low fecal elastase (69 [84.1%], <100 μg/g) and vitamin D deficiency (70[84.3%],<20 ng/ml). 9 cases had a history of fractures. 14/75(18.6%) cases had low TBLH-BMD and this group had a lower BMI (−1.3[-1.9 to 0.34] vs 0.8 [-2.1 to 5.50; p = 0.03) than patients with normal BMD. There was no difference in age, disease duration, vitamin D, fecal elastase and Cambridge grade between normal and low BMD. Conclusions41% CP children have undernutrition with a majority having mild undernutrition. Nearly 20% have low BMD, with osteoporosis in none. Subjects with low BMI have lower BMD and percentage body fat.

The influence of biological maturation and neuromuscular performance on peak bone mineral density in children

The growth and development cycle of the adult is characterized by substantial changes in physical size and maturity, and is controlled by the simultaneous influence of genetic components and the environment. Changes in the development of bones, muscles and adipose tissue are among the most important aspects of adolescent physical development. The aim of this research was to examine the correlation between bone mineral density (BMD) and neuromuscular performance in children at different stages of maturation. The study included 31 participants of both sexes (11.7±1.89 years). Body composition was assessed through bone densitometry using an energy duo X-ray source. The neuromuscular performance of the upper limbs was analyzed by the medicine ball hand grip and throwing tests. The lower limbs by the vertical counter-motion jump test, and skeletal maturation was analyzed by bone age. Maturation was used as an effect control between the association of BMD and neuromuscular performance. The results demonstrated significant associations between the performance of upper (P<0.0001) and lower (P=0.01) limbs and BMD. On inter-group comparison for only the accelerated maturational stage, male participants had greater BMD than female participants (P=0.001; effect size 3.13). Regarding the maturational stages, male participants in the accelerated maturational stage demonstrated higher BMD than those in the normal and delayed maturational stages (P=0.04; effect size 3.10), whereas female participants did not demonstrate significant differences in BMD accumulation. BMD has a strong correlation with the neuromuscular performance of upper and lower limbs of children of both sexes.

Routine serum biomarkers, but not dual-energy X-ray absorptiometry, correlate with cortical bone mineral density in children and young adults with chronic kidney disease.

Biomarkers and dual-energy X-ray absorptiometry (DXA) are thought to be poor predictors of bone mineral density (BMD). The Kidney Disease: Improving Global Outcomes guidelines suggest using DXA if the results will affect patient management, but this has not been studied in children or young adults in whom bone mineral accretion continues to 30 years of age. We studied the clinical utility of DXA and serum biomarkers against tibial cortical BMD (CortBMD) measured by peripheral quantitative computed tomography, expressed as Z-score CortBMD, which predicts fracture risk. This was a cross-sectional multicentre study in 26 patients with CKD4 and 5 and 77 on dialysis. Significant bone pain that hindered activities of daily living was present in 58%, and 10% had at least one low-trauma fracture. CortBMD and cortical mineral content Z-scores were lower in dialysis compared with CKD patients (P = 0.004 and P = 0.02). DXA BMD hip and lumbar spine Z-scores did not correlate with CortBMD or biomarkers. CortBMD was negatively associated with parathyroid hormone (PTH; r = -0.44, P < 0.0001) and alkaline phosphatase (ALP; r = -0.22, P = 0.03) and positively with calcium (Ca; r = 0.33, P = 0.001). At PTH <3 times upper limit of normal, none of the patients had a CortBMD below -2 SD (odds ratio 95% confidence interval 7.331 to infinity). On multivariable linear regression PTH (β = -0.43 , P < 0.0001), ALP (β = -0.36, P < 0.0001) and Ca (β = 0.21, P = 0.005) together predicted 57% of variability in CortBMD. DXA measures did not improve this model. Taken together, routinely used biomarkers, PTH, ALP and Ca, but not DXA, are moderate predictors of cortical BMD. DXA is not clinically useful and should not be routinely performed in children and young adults with CKD 4-5D.

Efficacy and safety of denosumab therapy for low bone mineral density in childhood cancer survivors: A report of preliminary experience

BACKGROUND In childhood cancer survivors, low bone mineral density (BMD) is a bone-related consequence. Efficacy of denosumab, an effective therapy for adult patients with osteoporosis, remains unclear in children. This study aimed to investigate denosumab therapy efficacy for low BMD in childhood cancer survivors. PROCEDURE Between January 2014 and January 2018, we monitored lumbar BMD of children with cancer using dual-energy X-ray absorptiometry after completing chemotherapy with a 6-month interval. For patients with low BMD, defined as height-adjusted Z-scores of BMD < -1.5 in this study, calcium carbonate and vitamin D supplements were initially administered. When low BMD continued for at least 6 months, denosumab therapy was introduced. Calcium and vitamin D supplementation were continued in patients on denosumab. We investigated BMD change and adverse effects during denosumab therapy. RESULTS During the study period, 20 patients received denosumab treatment. Mean height-adjusted Z-score of BMD before denosumab treatment was -2.68 but increased to -2, -1.96, and -1.33 at 0.5, 1, and 1.5 years after denosumab treatment, respectively (P = .012). In addition, hypocalcemia occurred in 40% (8/20) of patients; three patients had hypocalcemic symptoms with numbness in all four limbs. All hypocalcemic patients, except one patient who died due to relapsed leukemia, recovered well after continuous calcium supplementation. CONCLUSIONS Denosumab is an effective treatment for low BMD in childhood cancer survivors. However, the complication of hypocalcemia might develop posttreatment.

Assessment of Vitamin D Level and Osteoporosis in Children with Sickle Cell Anemia

Background: Calcium and vitamin D are important for bone metabolism. The low calcium intake leads to a reduction in the ideal bone mass peak in children with sickle-cell anemia, which determines growth failure. There is little information on BMD in children with SCD and its association with 25(OH)D levels. Objective: To evaluate the relation between Vitamin D level and bone mineral density in children with sickle cell disease. Patients and Methods: This cross-sectional study was conducted over 6 months from February to August 2018. It included 30 patients (14 males and 16 females) with SCD who were following up regularly, at Pediatric Hematology outpatient clinics of Zagazig University Hospitals, their ages ranged from 6-18 years (mean ±SD=12.3+3.84). Results: more than ¾ of the studied group has a deficient level of vitamin D (83.3%). BMD of L1-L4 is normal in only 13.3% of the studied patients and BMD of total body is normal in the fifth of the studied patients (20%). Correlation is non-significant between bone markers and Z-score of BMD, Z-score of BMD L1-L4, and vitamin D level among the studied sickle cell disease cases. Conclusion: Vitamin D deficiency is a major nutritional health problem in patients with sickle cell disease. Emphasizes the need for vitamin D level screening for all SCD patients. Children with SCD have low BMD. There was no statistically significant correlation between vitamin D and (Z-score of BMD L1-L4, Z-score of BMD total body, Osteocalcin, and Beta cross lab) among the studied sickle cell disease cases.

Low bone mineral density in children and adolescents with cancer.

Maximizing accumulation of bone mass during childhood and adolescence is essential to attaining optimal peak bone mass. Childhood cancer survivors (CCS) have lower bone mineral density (BMD) than the general population. Chemotherapeutic agents including steroids and radiotherapy can affect BMD. Cancer itself, hormonal insufficiency, a poor nutritional state, and a deficit of physical activities during or after treatment also influence BMD in CCS, resulting in failure to achieve appropriate peak bone mass. Low BMD in childhood and adolescence can lead to osteoporosis in adult life and complications such as bone pain, bone deformity, and fractures. Thus, BMD in CCS should be monitored with appropriate intervention. Adequate intake of calcium and vitamin D and an increase in physical activity are recommended. Timely supplements of hormones are needed in some cases. Some publications have reported that bisphosphonate therapies using pamidronate or alendronate were well tolerated in CCS and helped increase BMD.

Measurement of Bone Mineral Density in Children with Cerebral Palsy from an Ethical Issue to a Diagnostic Necessity.

Introduction Due to concerns about cumulative radiation exposure in the pediatric population, it is not standard practice to perform dual-energy X-ray absorptiometry (DXA) analysis in the diagnostic process of musculoskeletal disorders, such as cerebral palsy (CP). This study aimed to evaluate the bone mineral density (BMD) in children with CP and the ethical justification of applying DXA analysis in these children. Material and Methods. In this monocentric retrospective analysis, data were collected from children and adolescents with CP who were treated for a primary illness for three years. A clinical examination, which included a DXA analysis, recommended by the multidisciplinary team, was performed. After applying inclusion and exclusion criteria, 60 scans remained for statistical analysis. BMD and Z-scores for the lumbar spine (LS), and hip right and left femoral neck (RFN and LFN, respectively), and total hip (TH) were recorded. Results The average age of children with CP when DXA analysis was first performed was about 7 years. The BMD (mean ± SD) at LS (LS-BMD) of all patients was 0.612 ± 0.12, at RFN 0.555 ± 0.11, at LFN 0.572 ± 0.1, and at TH (TH-BMD) 0.581 ± 0.13. The values of the Z-score (mean ± SD) at LS of all patients were −2.5 ± 0.22, at RFN −2.2 ± 0.21, at LFN -2.25 (SD = 0.2), and at TH -2.3 (SD = 0.23). There was no statistical significance between age and gender; however, BMI, walking ability, fracture history, and pattern of CP had a significant impact on BMD and Z-score values of these children. Conclusion The results of our study clearly indicate that children with CP have a higher risk of low BMD, osteoporosis, and bone fractures, which makes it ethically justifiable to perform the DXA analysis in these children.

Vitamin-D status and bone mineral density in asthmatic children on long-term inhaled corticosteroids

Asthma is the most common chronic respiratory illness affecting children. Inhaled corticosteroids (ICS) form the main treatment modality in asthma. Reduction in bone mineral density (BMD) is an important adverse effect of steroid usage. This side effect is an established entity with oral corticosteroids but minimal with ICS therapy. However, there are reports regarding the detrimental effect of chronic therapy with ICS. Long-term high-dose budesonide more than 800 μg/day has been shown to reduce the BMD. However, this effect was not consistently seen with moderate doses of 400–800 μg/day. Anticipating the impact of steroids on bone metabolism and monitoring for it is essential. Annual monitoring of Vitamin-D levels and BMD in children on chronic therapy is beneficial for the early detection and management of steroid-induced osteopenia. Judicious ICS use at the lowest effective dose should be tailor-made for every individual.

Is There Difference of BMD between Non-Obese and Obese Children? - A Cross-Sectional Study in 194 Thai Children

Objective: To find the correlation between the presence of childhood obesity and bone mineral density (BMD). Materials and Methods: A cross-sectional study was conducted among children aged between 5 and 12 years old. After excluding children who had history of endocrinopathy, epilepsy, or cerebral palsy, all participants were divided into “obese group” (body mass index [BMI] at or above the 95 percentile of those with the same age and gender) and “control group” (BMI below the 95 percentile). Skeletal age, BMD, serum bone markers (osteocalcin and beta-crosslaps), and physical exercise were collected. Multivariate regression analysis was used for statistical analysis. Results: Ninety-six obese children and 98 controls were included in the present study. The average BMI was 28.5 kg/m² in obese group, and 16.6±1.9 kg/m² in controls (p&lt;0.001). BMDs of the spine and hip area were significantly higher in obese group compared to controls (p=0.002 and &lt;0.001, respectively). However, there was no significant difference of skeletal age or serum bone markers level between both groups (p&gt;0.05 all). Exercise was shown to significantly correlated with hip and distal radius BMD (p&lt;0.001 and 0.003, respectively). Conclusion: Obese children had significantly higher spine and hip BMD than non-obese children. Nevertheless, there were no differences between groups regarding skeletal age and bone markers. BMI and exercise activity might play an important role in higher BMD in children. Keywords: Bone mineral density, Children obesity

Bone mineral density in children with cerebral palsy and Spina Bifida treated with ibandronate

Background. Bisphosphonates have become a common method for the prevention and treatment of osteoporosis in children with neuromuscular diseases.&#x0D; Aim. The aim of this study was to assess the mid-term changes of bone mineral density in patients with cerebral palsy and spina bifida treated with ibandronic acid.&#x0D; Materials and methods. Thirty-four patients were examined and treated: 19 children with cerebral palsy (GMFCS levels IIIIV) and 15 children with spina bifida (thoracic and upper lumbar neurosegmental levels), mean age 9.8 2.9 years. Ibandronic acid was administered to all patients (3 consecutive intravenous infusions, 0.1 mg/kg every 34 months). The assessment of bone mineral density was performed using dual-energy X-ray absorptiometry.&#x0D; Results. The Z-score increased from 2.55 to 2.1 (total body less head), and from 2.7 to 1.65 (lumbar spine). Improvement of the Z-score for the lumbar spine was noted after the first infusion, and for the whole body after the first two infusions.&#x0D; Conclusion. Ibandronic acid infusions improved the bone mineral density in children with cerebral palsy and spina bifida for both the whole body and the lumbar spine. Given the data obtained, weight-bearing exercises can be recommended three months after the first infusion, and dynamic exercises can be performed, preferably after six months.

Bone Mineral Density in Normal-Weight, Overweight and Obese Children and Its Association with Body Composition

Abstract Objectives Examine the differences in bone mineral density between normal-weight children and children with overewight or obesity and its association with body composition. Methods In a cross-sectional study, 49 healthy schoolchildren from 6 to 11 years of age attending the outpatient clinic of the Hospital were included. Weight and height were measured for the calculation of the body mass index for age and height for age. The diagnosis of normal-weight, overweight and obesity was made according to the criteria of the World Health Organization. Bone mineral density (BMD) was obtained by dual energy X-ray absorptiometry (DXA). Statistic analysis. The ANOVA test was used to compare mean values between groups. Pearson's correlation to analyze the relationship between BMD and body composition; and multiple regression models to identify associated variables. Results Mean age 8.4 ± 1.7 years; 16 with normal weight, 15 overweight and 18 with obesity. All children had a normal BMD (&amp;gt;–2 Z score). BMD (g/cm2 and Z score) was higher in children with obesity (p &amp;lt; 0.05). Bone mineral content (BMC [g]) and BMD (g/cm2) had a positive correlation with total lean and trunk mass in the three groups (p &amp;lt; 0.001). Fat mass correlated with BMC and BMD in children with normal-weight and overweight, but not in obese children. In multivariate models, total lean mass was the only significant variable within the model that explained the variability of BMD (g/cm2). Conclusions BMD was higher in children with obesity. Lean mass was its most important predictor, which suggests the importance of maintaining the muscular system through the practice of physical activity and healthy lifestyles. Funding Sources Universidad de Guadalajara; Hospital Civil de Guadalajara; Consejo Nacional de Ciencia y Tecnología de México.

Bone densities and bone geometry in children and adolescents with arthrogryposis.

To describe bone densitometry results using lumbar spine dual-energy X-ray absorptiometry and forearm peripheral quantitative computed tomography (pQCT) in children with arthrogryposis multiplex congenita (AMC). Prospective study. Lumbar spine areal bone mineral density (BMD) was measured in 58 participants (mean age 6.8years, range 1month to 19.7years; 26 males). The diagnostic subgroup was Amyoplasia in 27 participants, distal arthrogryposis (unclassified, n=13; type 2A, n=1; type 2B, n=2; type 8, n=2) in 18 patients, an unclassified form of arthrogryposis in 6 patients, and a syndromic form of arthrogryposis in 7 patients. The mean lumbar spine areal BMD was -0.4 (SD: 1.5) which was significantly below 0 (p<0.05, one-sample t-test). The mean lumbar spine bone mineral apparent density z-score (+0.4 [SD: 1.4]), a measure that is largely independent of bone size, was not significantly different from 0 (P>0.05). A subset of 22 patients aged 6years or older (mean age 10.9years, 11 males) had forearm pQCT analysis. Mean z-scores for trabecular and cortical volumetric BMD at the radius were similar to healthy controls. Radius periosteal bone circumference and bone mineral content were appropriate for height. These densitometric results did not differ between patients with Amyoplasia or individuals with other diagnoses. Low areal BMD in children and adolescents with AMC reflects their smaller bone size rather than a specific bone mass deficit. These data do not suggest that children and adolescents with AMC in general require regular monitoring by bone densitometry unless there are specific clinical concerns.

Low Bone Mineral Density at Initial Diagnosis in Children and Adolescents with Graves’ Disease

Previous studies have reported reduced bone mineral density (BMD) in patients with hyperthyroidism. We assessed the association of BMD in children and adolescents with Graves’ disease (GD) after correcting for potential confounders affecting BMD such as age, sex, and pubertal status. Forty-four children and adolescents with GD and 172 age- and sex-matched healthy controls were enrolled in this study. We analyzed auxological features, BMD, and levels of thyroid hormone, thyroid-stimulating hormone, and thyroid autoantibodies. We measured BMD by dual-energy X-ray absorptiometry at the time of diagnosis in all patients. The mean age of all patients with GD (9 boys and 32 girls) was 12.1 ± 2.2 years (range, 7.0–16.0). Their initial mean free T4 and thyroid-stimulating hormone levels were 3.51 ± 1.56 ng/dL and 0.04 ± 0.03 IU/L, respectively. The mean BMD Z-scores of the lumbar spine (LS), femoral neck, and total body less head of patients with GD were significantly lower than those of control subjects. Eleven patients (26.8%) had low bone density (LS BMD Z-scores < −2.0). To identify correlations of patient characteristics with BMD Z-scores at each site, alkaline phosphatase had a significant negative correlation with BMD Z-scores at LS and femoral neck, but not total body less head (r = −0.441; p = 0.004 and r = −0.351; p = 0.025, respectively). Children and adolescents with newly diagnosed GD had lower bone mass than their healthy peers. These results suggest that BMD measurement at initial evaluation may be necessary in this population.

SAT-LB68 A Rare De Novo Mutation in LRP5 Gene in an Adolescent Female With Juvenile Onset Primary Osteoporosis

Background: Juvenile onset of primary osteoporosis is a rare skeletal disorder with a highly heterogenous clinical presentation and complex poorly understood genetic etiology. Low-density lipoprotein receptor-related protein 5 (LRP5), a Wnt-β-catenin pathway receptor involved in bone mineral density (BMD) regulation, has been reported in children with primary osteoporosis mainly due to missense and frame-shift mutations. To our knowledge, there is only one report of in-frame deletions in exon 21 possibly being implicated in pregnancy related osteoporosis (1). We report the first case of a rare heterozygous de novo in-frame deletion in exon 21 of LRP5 gene in a girl with juvenile onset primary osteoporosis. Clinical Case: A 7.5 yo previously healthy European-African-American female born to non-consanguineous family, was noted to have left ankle and bilateral wrists fractures during sport activities occurring over the span of 1 y. On exam, she was of normal stature, had normal sclerae and vision, but was found to have hypermobile joints. Initial blood work revealed an elevated iPTH 72 pg/mL (9-59), normal Ca 9.6 mg/dL (8.9-10.4), and low 25OH-Vitamin D 17 ng/mL (30-100), which normalized with supplementation to 30.4 ng/mL. By 10.5 yo, she had sustained multiple sports related and pathologic fractures of long bones with progressive bone pain and functional ambulatory impairment. Radiographic evaluation showed osteopenia, multiple healed long bone fractures with presumed non-ossifying fibroma in the distal right femoral metaphysis, and subtle height loss of T4-5 vertebrae. CT bone densitometry at 12 yo showed low mean cancellous lumbar vertebral BMD of 190 mg/cm3 (ref. 285 ± 45) and normal cortical BMD of the femoral midshaft of 1977 mg/cm3 (ref. 2000 ± 60). Genetic testing for Osteogenesis Imperfecta returned negative for COL1A1 and COL1A2 mutations. Whole exome sequencing (WES) revealed a rare, de novo heterozygous mutation in exon 21 that involved deletion of nucleotides 4454 to 4465 resulting in an in-frame deletion of amino acid 1485 to 1488. This mutation is predicted to be deleterious by in silico analysis. Conclusion: We present the first case of a young female with progressive pathologic fractures, functional ambulatory impairment, and low BMD in childhood, consistent with juvenile onset primary osteoporosis. WES revealed a rare de novo heterozygous in-frame deletion mutation in LRP5, providing a plausible biological mechanism for her clinical presentation, and further contributing to the increasing genetic heterogeneity of juvenile onset primary osteoporosis and LRP5-related bone disorders. Reference: (1) Cook, F., Mumm, S., Whyte, M., Wenkert, D. Pregnancy-associated osteoporosis with a heterozygous deactivating LDL receptor-related protein 5 (LRP5) mutation and a homozygous methylenetetrahydrofolate reductase (MTHRF) polymorphism. JBMR. 2014;29 (4): 922-8.

Urinary calcium and bone mineral density in children with nephrotic syndrome treated with glucocorticoids

Background: Mainstay of therapy in the idiopathic nephrotic syndrome is glucocorticoids. Glucocorticoid induced osteoporosis is considered as most prevalent type of secondary osteoporosis. Only limited studies are conducted in tropical nations. Therefore our study is undertaken with objectives to evaluate Glucocorticoid therapy impact on bone health in Nephrotic Syndrome (NS) children by 2 different tools, namely urinary calcium and bone mineral density (BMD) by Quantitative ultrasound (QUS) and compare both the tools.Methods: Total 42 children with NS who completed minimum 12 weeks of Glucocorticoid therapy (6 weeks of daily regimen and minimum 6 weeks of alternate day regimen) were subjected to 24 hour Urinary calcium and Bone Mineral density by QUS at Tertiary health centre, Kalaburagi.Results: Out of 42 cases, 45.2 % had Osteopenia and 2.4% had osteoporosis, so 47.6% of them had BMD measured by QUS. Hypercalciurea was seen in 10 out of 42 cases (23.8%). In normal BMD group only 0.5% had hypercalciurea, Osteopenia group had 47.4% of cases and all osteoporosis group had hypercalciurea.Conclusions: Present study data concludes that children with NS treated with Glucocorticoids are at risk of Negative impact on bone health. Though both the tools detect impact of Glucocorticoids on bone health, BMD by QUS has better rate then urinary calcium in detecting negative effect of Glucocorticoid on bone health. As BMD by QUS decreases, Urinary calcium increases reflecting inverse relation between them.