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1. Assessment of short stature

Assessment of short stature Assessment of short stature - Differential diagnosis of symptoms | BMJ Best Practice You'll need a subscription to access all of BMJ Best Practice Search  Assessment of short stature Last reviewed: February 2019 Last updated: October 2018 Summary Short stature is defined as a height that is two or more standard deviations below the mean for age and gender within a population (below the 2.5th percentile). Growth deceleration is defined as a growth velocity (...) that is below the 5th percentile for age and gender (e.g., <5 cm/year after the age of 5 years), or a height drop across two or more percentiles on the growth chart. Epidemiology About 2% of all children, or more than 1 million children in the US, present with short stature. Boys come to medical attention because of short stature more frequently than girls. However, one study found that 38% of boys and 20% of girls who were referred were of normal height, the referral being due to errors in measurement

2018 BMJ Best Practice

2. Assessment of short stature

Assessment of short stature Assessment of short stature - Differential diagnosis of symptoms | BMJ Best Practice You'll need a subscription to access all of BMJ Best Practice Search  Assessment of short stature Last reviewed: February 2019 Last updated: October 2018 Summary Short stature is defined as a height that is two or more standard deviations below the mean for age and gender within a population (below the 2.5th percentile). Growth deceleration is defined as a growth velocity (...) that is below the 5th percentile for age and gender (e.g., <5 cm/year after the age of 5 years), or a height drop across two or more percentiles on the growth chart. Epidemiology About 2% of all children, or more than 1 million children in the US, present with short stature. Boys come to medical attention because of short stature more frequently than girls. However, one study found that 38% of boys and 20% of girls who were referred were of normal height, the referral being due to errors in measurement

2018 BMJ Best Practice

3. Aggrecan Mutations in Nonfamilial Short Stature and Short Stature Without Accelerated Skeletal Maturation (PubMed)

Aggrecan Mutations in Nonfamilial Short Stature and Short Stature Without Accelerated Skeletal Maturation Aggrecan, a proteoglycan, is an important component of cartilage extracellular matrix, including that of the growth plate. Heterozygous mutations in ACAN, the gene encoding aggrecan, cause autosomal dominant short stature, accelerated skeletal maturation, and joint disease. The inheritance pattern and the presence of bone age equal to or greater than chronological age have been consistent (...) features, serving as diagnostic clues. From family 1, a 6-year-old boy presented with short stature [height standard deviation score (SDS), -1.75] and bone age advanced by 3 years. There was no family history of short stature (height SDS: father, -0.76; mother, 0.7). Exome sequencing followed by Sanger sequencing identified a de novo novel heterozygous frameshift mutation in ACAN (c.6404delC: p.A2135Dfs). From family 2, a 12-year-old boy was evaluated for short stature (height SDS, -3.9). His bone age

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2017 Journal of the Endocrine Society

4. Short Stature Homeobox-Containing Haploinsufficiency in Seven Siblings with Short Stature (PubMed)

Short Stature Homeobox-Containing Haploinsufficiency in Seven Siblings with Short Stature Deficiency of the short stature homeobox-containing (SHOX) gene is a frequent cause of short stature in children (2-15%). Here, we report 7 siblings with SHOX deficiency due to a point mutation in the SHOX gene. Index case was a 3-year-old male who presented for evaluation of short stature. His past medical history and birth history were unremarkable. Family history was notable for multiple individuals (...) with short stature. Physical exam revealed short stature, with height standard deviation score (SDS) of -2.98, as well as arm span 3 cm less than his height. His laboratory workup was noncontributory for common etiologies of short stature. Due to significant familial short stature and shortened arm span, SHOX gene analysis was performed and revealed patient is heterozygous for a novel SHOX gene mutation at nucleotide position c.582. This mutation is predicted to cause termination of the SHOX protein

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2017 Case reports in endocrinology

5. Incidence of diabetes mellitus and neoplasia in Japanese short-statured children treated with growth hormone in the Genetics and Neuroendocrinology of Short Stature International Study (GeNeSIS) (PubMed)

Incidence of diabetes mellitus and neoplasia in Japanese short-statured children treated with growth hormone in the Genetics and Neuroendocrinology of Short Stature International Study (GeNeSIS) The primary goal of the Genetics and Neuroendocrinology of Short Stature International Study (GeNeSIS) was to assess the safety and effectiveness of Humatrope®, a GH preparation, in the treatment of pediatric patients with short stature. We report our findings in the GH-treated Japanese pediatric

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2017 Clinical Pediatric Endocrinology

6. GH Deficiency, Idiopathic Short Stature, and IGF-I Deficiency treatment guidelines

GH Deficiency, Idiopathic Short Stature, and IGF-I Deficiency treatment guidelines E-Mail karger@karger.com Clinical Practice Committee Publication Horm Res Paediatr 2016;86:361–397 DOI: 10.1159/000452150 Guidelines for Growth Hormone and Insulin-Like Growth Factor-I Treatment in Children and Adolescents: Growth Hormone Deficiency, Idiopathic Short Stature, and Primary Insulin-Like Growth Factor-I Deficiency Adda Grimberg a, b Sara A. DiVall c, d Constantin Polychronakos e David B. Allen f, g (...) considerably. This report serves to update the 2003 guidelines by following the approach recom- mended by the Grading of Recommendations, Assess- ment, Development, and Evaluation (GRADE) group [2] . The large number of approved indications for GH treat- ment is too unwieldy to review in this manner in a single document. Because idiopathic short stature (ISS) remains a controversial indication, and diagnostic challenges of- ten blur the distinction between ISS, GH deficiency (GHD), and primary IGF-I

2016 Pediatric Endocrine Society

7. Aromatase inhibitors for short stature in male children and adolescents. (PubMed)

Aromatase inhibitors for short stature in male children and adolescents. As a result of the essential role of oestrogens in epiphyseal closure, aromatase inhibitors have been trialled as an intervention to improve height outcomes in male children and adolescents by inhibiting the conversion of testosterone to oestradiol.To assess the effects of aromatase inhibitors in male children and adolescents with short stature.To identify relevant trials, we searched the Cochrane Library (2014, Issue 7 (...) growth parameters, and assessment of effects on bone health. Meta-analysis was not appropriate due to the substantial clinical heterogeneity between trials; we presented the findings of the review in narrative format.We included four RCTs involving 207 participants (84 on interventions) in the review. Trials included males with constitutional delay of growth and puberty (CDGP), idiopathic short stature (ISS), and growth hormone (GH) deficiency. Three of the trials had an overall low or unclear risk

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2015 Cochrane

8. A Novel IGSF1 Mutation in a Boy With Short Stature and Hypercholesterolemia: A Case Report (PubMed)

A Novel IGSF1 Mutation in a Boy With Short Stature and Hypercholesterolemia: A Case Report IGSF1 deficiency is a recently discovered syndrome consisting of congenital central hypothyroidism (CeH) and macroorchidism. Here, we report on a patient presenting with short stature, who was found to carry a pathogenic mutation in the IGSF1 gene.A 14-year-old Israeli boy was referred to the Academic Medical Center in Amsterdam, The Netherlands, for follow-up on short stature ascribed to constitutional

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2017 Journal of the Endocrine Society

9. High prevalence of growth plate gene variants in children with familial short stature treated with growth hormone. (PubMed)

High prevalence of growth plate gene variants in children with familial short stature treated with growth hormone. Familial short stature (FSS) is a term describing a growth disorder that is vertically transmitted. Milder forms may result from the combined effect of multiple genes, more severe short stature is suggestive of a monogenic condition. The etiology of most FSS cases has not been thoroughly elucidated to date.To identify the genetic etiology of severe FSS in children treated

2019 Journal of Clinical Endocrinology and Metabolism

10. Improved General and Height-Specific Quality of Life in Children with Short Stature after One Year on Growth Hormone. (PubMed)

Improved General and Height-Specific Quality of Life in Children with Short Stature after One Year on Growth Hormone. Short stature in children and adolescents may lead to social and emotional stress with negative effects on quality of life (QoL). Growth hormone (GH) treatment may improve QoL through height normalisation. Our objective here was to evaluate general and height-specific QoL after one year of GH treatment.Prospective, single-centre, observational cohort study.Children ≥4 years (...) of age starting GH at our centre in 2012-2015 to treat short stature were studied. Patients with serious diseases, syndromic short stature, or developmental delay were excluded. At treatment initiation and 1 year later, patients and their parents completed the general PedsQL 4.0 and height-specific Quality of Life in Short Stature Youth (QoLiSSY) questionnaires. Correlations between self-report and parent-report scores and between height gain and QoL improvements were assessed based on Pearson's

2019 Journal of Clinical Endocrinology and Metabolism

11. Short stature in advanced pediatric CKD is associated with faster time to reduced kidney function after transplant. (PubMed)

Short stature in advanced pediatric CKD is associated with faster time to reduced kidney function after transplant. Among children who receive a kidney transplant, short stature is associated with a more complicated post-transplant course and increased mortality. Short stature prior to transplant may reflect the accumulated risk of multiple factors during chronic kidney disease (CKD); however, its relationship with post-transplant kidney function has not been well characterized.In the Chronic (...) Kidney Disease in Children (CKiD) cohort restricted to children who received a kidney transplant, short stature (i.e., growth failure) was defined as age-sex-specific height < 3rd percentile. The outcome was time to estimated glomerular filtration rate (eGFR) < 45 ml/min/1.73 m2 after transplant. Parametric survival models, including adjustment for disease severity, socioeconomic status (SES), and parental height by inverse probability weighting, described the relative times to eGFR< 45 ml/min/1.73

2019 Pediatric Nephrology

12. Multigene sequencing analysis of children born small for gestational age with isolated short stature. (PubMed)

Multigene sequencing analysis of children born small for gestational age with isolated short stature. Patients born small for gestational age (SGA) who present with persistent short stature may have an underlying genetic etiology which accounts for prenatal and postnatal growth impairment. We have applied a unique massive parallel sequencing approach in cohort of exclusively nonsyndromic SGA patients to simultaneously interrogate for clinically significant genetic variants.To perform a genetic (...) investigation of children with isolated short stature born SGA.Screening by exome (n=16) or targeted gene panel (n=39) sequencing.Tertiary referral center for growth disorders.We selected 55 patients born SGA with persistent short stature without an identified cause of short stature.Frequency of pathogenic findings.We identified heterozygous pathogenic or likely pathogenic genetic variants in eight of 55 patients, all of them in genes already associated with growth disorders. Four of the genes

2019 Journal of Clinical Endocrinology and Metabolism

13. Evolutionary conserved networks of human height identify multiple Mendelian causes of short stature. (PubMed)

Evolutionary conserved networks of human height identify multiple Mendelian causes of short stature. Height is a heritable and highly heterogeneous trait. Short stature affects 3% of the population and in most cases is genetic in origin. After excluding known causes, 67% of affected individuals remain without diagnosis. To identify novel candidate genes for short stature, we performed exome sequencing in 254 unrelated families with short stature of unknown cause and identified variants in 63 (...) candidate genes in 92 (36%) independent families. Based on systematic characterization of variants and functional analysis including expression in chondrocytes, we classified 13 genes as strong candidates. Whereas variants in at least two families were detected for all 13 candidates, two genes had variants in 6 (UBR4) and 8 (LAMA5) families, respectively. To facilitate their characterization, we established a clustered network of 1025 known growth and short stature genes, which yielded 29 significantly

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2019 European Journal of Human Genetics

14. De Novo and Inherited Pathogenic Variants in KDM3B Cause Intellectual Disability, Short Stature, and Facial Dysmorphism. (PubMed)

De Novo and Inherited Pathogenic Variants in KDM3B Cause Intellectual Disability, Short Stature, and Facial Dysmorphism. By using exome sequencing and a gene matching approach, we identified de novo and inherited pathogenic variants in KDM3B in 14 unrelated individuals and three affected parents with varying degrees of intellectual disability (ID) or developmental delay (DD) and short stature. The individuals share additional phenotypic features that include feeding difficulties in infancy (...) mechanism for this syndrome. By using a hybrid facial-recognition model, we show that individuals with a pathogenic variant in KDM3B have a facial gestalt, and that they show significant facial similarity compared to control individuals with ID. In conclusion, pathogenic variants in KDM3B cause a syndrome characterized by ID, short stature, and facial dysmorphism.Copyright © 2019 American Society of Human Genetics. All rights reserved.

2019 American Journal of Human Genetics

15. Severe brachydactyly and short stature resulting from a novel pathogenic TRPS1 variant within the GATA DNA-binding domain. (PubMed)

Severe brachydactyly and short stature resulting from a novel pathogenic TRPS1 variant within the GATA DNA-binding domain. Brachydactyly type E, which can be an isolated finding or part of a syndrome in combination with other clinical anomalies, involves metacarpals and metatarsals with or without short phalanges. Herein we report two unrelated Turkish females who presented with brachydactyly type E and vitamin D deficiency in the absence of marked alterations in serum calcium, phosphate (...) , and parathyroid hormone. After excluding disease-causing variants in two candidate genes, PTHLH and PDE4D, we identified different pathogenic variants in TRPS1, the gene mutated in patients with tricho-rhino-phalangeal syndrome (TRPS). In one of the patients, who displayed severe brachydactyly and short stature, we identified a novel heterozygous missense pathogenic variant in exon 6 (c.2783A>G, p.Tyr928Cys), located within the GATA DNA-binding domain. The second patient, who had relatively milder

2019 Bone

16. Factors affecting bone age maturation during 3 years of growth hormone treatment in patients with idiopathic growth hormone deficiency and idiopathic short stature: Analysis of data from the LG growth study. (PubMed)

Factors affecting bone age maturation during 3 years of growth hormone treatment in patients with idiopathic growth hormone deficiency and idiopathic short stature: Analysis of data from the LG growth study. To investigate the progression rate of bone age (BA) and associated factors during the first 3 years of growth hormone (GH) treatment in children with idiopathic GH deficiency (iGHD) and idiopathic short stature (ISS).Data for prepubertal children with iGHD and ISS who were treated

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2019 Medicine

17. Autosomal recessive chondrodysplasia with severe short stature caused by a biallelic COL10A1 variant

Autosomal recessive chondrodysplasia with severe short stature caused by a biallelic COL10A1 variant Autosomal recessive chondrodysplasia with severe short stature caused by a biallelic COL10A1 variant | JMG Contact blog by Individuals carrying single mutated copies of Collagen 10 alpha-1, ( COL10A1) suffer from Metaphyseal chondrodysplasia, Schmid type, (MCDS), involving mild to moderate short stature and skeletal deformities of the limbs. We describe individuals with two mutated copies (...) of COL10A1 , exhibiting extreme short stature and severe lower limb deformities. However, individuals with single mutated copies had below average heights and no apparent skeletal defects. This mutation was located in the NC2 domain, in which no pathogenic variants have been described before. This is the first report of a COL10A1 variant with autosomal recessive skeletal dysplasia and suggests that some COL10A1 alleles may be involved in isolated short stature. (By Dr. Sadaf Naz, ) (Visited 47 times, 1

2017 JMG Contact blog

18. Effects of Astragalus Extract Mixture HT042 on Height Growth in Children with Mild Short Stature: A Multicenter Randomized Controlled Trial. (PubMed)

Effects of Astragalus Extract Mixture HT042 on Height Growth in Children with Mild Short Stature: A Multicenter Randomized Controlled Trial. HT042 is a standardized functional food ingredient approved by Korean Food and Drug Administration with a claim 'HT042 can help height growth of children'. We aimed to evaluate the safety and efficacy of HT042 on height growth in children with mild short stature. A multicenter, randomized, double-blind, placebo-controlled parallel study was performed

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2018 Phytotherapy research : PTR

19. Co-occurrence of a maternally inherited DNMT3A duplication and a paternally inherited pathogenic variant in EZH2 in a child with growth retardation and severe short stature: atypical Weaver syndrome or evidence of a DNMT3A dosage effect? (PubMed)

Co-occurrence of a maternally inherited DNMT3A duplication and a paternally inherited pathogenic variant in EZH2 in a child with growth retardation and severe short stature: atypical Weaver syndrome or evidence of a DNMT3A dosage effect? Overgrowth syndromes are a clinically heterogeneous group of disorders characterized by localized or generalized tissue overgrowth and varying degrees of developmental and intellectual disability. An expanding list of genes associated with overgrowth syndromes (...) , slow postnatal growth, short stature, hypotonia, developmental delay, and neuroblastoma diagnosed at the age of 8 mo. Her father had tall stature, dysmorphic facial features, and intellectual disability consistent with Weaver syndrome, whereas her mother had short stature, cognitive delays, and chronic nonprogressive leukocytosis. It has been previously shown that EZH2 directly controls DNA methylation through physical association with DNMTs, including DNMT3A, with concomitant H3K27 methylation

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2018 Cold Spring Harbor Molecular Case Studies

20. Growth hormone in combination with leuprorelin in pubertal children with idiopathic short stature (PubMed)

Growth hormone in combination with leuprorelin in pubertal children with idiopathic short stature There is a scarcity of data from randomised controlled trials on the association of growth hormone (GH) with gonadotrophin-releasing hormone agonists in idiopathic short stature (ISS), although this off-label use is common. We aimed to test whether delaying pubertal progression could increase near-adult height (NAH) in GH-treated patients with ISS.Patients with ISS at puberty onset were randomised

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2018 Endocrine connections

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