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Constitutional Short Stature

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1. Assessment of short stature

(genetic) short stature and constitutional delay of growth and development. However, in a small number of children, short stature can be a manifestation of a pathological condition (e.g., endocrinopathy, malabsorption, renal disease, inflammatory disease). In a school-based study, 14% of children who were shorter than the 3rd percentile and growing at <5 cm/year were found to have an underlying medical condition, of which 5% were endocrine in origin. Pathological short stature: there is medium-quality (...) towards the end of puberty and achieve greater height velocities than girls. This, combined with the fact that boys grow for approximately 2 years more than girls, explains the 13 cm (5 inches) difference in final heights between the sexes. Differentials Familial short stature (genetic short stature) Constitutional delay of growth and development Idiopathic short stature Small for gestational age (SGA) without catch-up growth by 2 years of age Growth hormone (GH) deficiency Hypothyroidism Cushing

2018 BMJ Best Practice

2. Assessment of short stature

(genetic) short stature and constitutional delay of growth and development. However, in a small number of children, short stature can be a manifestation of a pathological condition (e.g., endocrinopathy, malabsorption, renal disease, inflammatory disease). In a school-based study, 14% of children who were shorter than the 3rd percentile and growing at <5 cm/year were found to have an underlying medical condition, of which 5% were endocrine in origin. Pathological short stature: there is medium-quality (...) towards the end of puberty and achieve greater height velocities than girls. This, combined with the fact that boys grow for approximately 2 years more than girls, explains the 13 cm (5 inches) difference in final heights between the sexes. Differentials Familial short stature (genetic short stature) Constitutional delay of growth and development Idiopathic short stature Small for gestational age (SGA) without catch-up growth by 2 years of age Growth hormone (GH) deficiency Hypothyroidism Cushing

2018 BMJ Best Practice

3. Constitutional Short Stature

Constitutional Short Stature Constitutional Short Stature Toggle navigation Brain Head & Neck Chest Endocrine Abdomen Musculoskeletal Skin Infectious Disease Hematology & Oncology Cohorts Diagnostics Emergency Findings Procedures Prevention & Management Pharmacy Resuscitation Trauma Emergency Procedures Ultrasound Cardiovascular Emergencies Lung Emergencies Infectious Disease Pediatrics Neurologic Emergencies Skin Exposure Miscellaneous Abuse Cancer Administration 4 Constitutional Short Stature (...) Constitutional Short Stature Aka: Constitutional Short Stature From Related Chapters II. Signs and development in either parent (50%) Normal birth history Normal growth for the first several months Absence of organic or psychologic disease Discrete interval of severe growth deceleration Duration: 1-3 years Onset: under age 2 years Onset delayed Final height appropriate for genetic height potential III. Imaging: Bone Age Film lags Images: Related links to external sites (from Bing) These images are a random

2018 FP Notebook

4. 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

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

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 (...) 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

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2015 Cochrane

6. 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

7. Spatial and demographic disparities in short stature among school children aged 7-18 years: a nation-wide survey in China, 2014. (PubMed)

Spatial and demographic disparities in short stature among school children aged 7-18 years: a nation-wide survey in China, 2014. To identify spatial disparities and demographic characteristics of short stature, we analysed the prevalence of short stature collected in a nationwide health survey.Data were obtained from the 2014 Chinese National Survey on Students Constitution and Health (a cross-sectional study of China). Participants came from 30 provinces, autonomous regions, and municipalities (...) (except Tibet, Hong Kong, Macao, and Taiwan).There were 213 795 Han school children between 7 and 18 years old enrolled in our study. All participants were sampled by stratified cluster.Short stature; Chinese and WHO age-specific and gender-specific height growth references were used for short stature assessment.The age-standardised and age-gender-standardised prevalence of short stature nationwide was 3.70% and 2.69% according to Chinese and WHO growth references, respectively. The short stature

2019 BMJ open

8. A Study to Evaluate the Efficacy and Safety of Recombinant Human Growth Hormone in Short Stature Children Due to Chronic Kidney Disease Before Transplantation

A Study to Evaluate the Efficacy and Safety of Recombinant Human Growth Hormone in Short Stature Children Due to Chronic Kidney Disease Before Transplantation A Study to Evaluate the Efficacy and Safety of Recombinant Human Growth Hormone in Short Stature Children Due to Chronic Kidney Disease Before Transplantation - Full Text View - ClinicalTrials.gov Hide glossary Glossary Study record managers: refer to the if submitting registration or results information. Search for terms x × Study Record (...) Detail Saved Studies Save this study Warning You have reached the maximum number of saved studies (100). Please remove one or more studies before adding more. A Study to Evaluate the Efficacy and Safety of Recombinant Human Growth Hormone in Short Stature Children Due to Chronic Kidney Disease Before Transplantation The safety and scientific validity of this study is the responsibility of the study sponsor and investigators. Listing a study does not mean it has been evaluated by the U.S. Federal

2018 Clinical Trials

9. A recognizable type of syndromic short stature with arthrogryposis caused by bi-allelic SEMA3A loss-of-function variants. (PubMed)

A recognizable type of syndromic short stature with arthrogryposis caused by bi-allelic SEMA3A loss-of-function variants. The semaphorins constitute a large family of secreted and membrane-associated proteins that regulate many developmental processes, including neural circuit assembly, bone formation and angiogenesis. Recently, bi-allelic loss-of-function variants in SEMA3A (semaphorin 3A) were identified in a single patient with a particular pattern of multiple congenital anomalies (MCA (...) ). Using homozygosity mapping combined with exome sequencing, we identified a homozygous SEMA3A variant causing a premature stop codon in an 8 year old boy with the same pattern of MCA. The phenotype of these patients is characterized by postnatal short stature, skeletal anomalies of the thorax, a minor congenital heart or vascular defect, camptodactyly, micropenis, and variable additional anomalies. Motor development is delayed in both patients, and intellectual development is delayed in one patient

2017 Clinical Genetics

10. A Study of PEG-somatropin in the Treatment of Children With Idiopathic Short Stature

A Study of PEG-somatropin in the Treatment of Children With Idiopathic Short Stature A Study of PEG-somatropin in the Treatment of Children With Idiopathic Short Stature - Full Text View - ClinicalTrials.gov Hide glossary Glossary Study record managers: refer to the if submitting registration or results information. Search for terms x × Study Record Detail Saved Studies Save this study Warning You have reached the maximum number of saved studies (100). Please remove one or more studies before (...) adding more. A Study of PEG-somatropin in the Treatment of Children With Idiopathic Short Stature The safety and scientific validity of this study is the responsibility of the study sponsor and investigators. Listing a study does not mean it has been evaluated by the U.S. Federal Government. of clinical studies and talk to your health care provider before participating. Read our for details. ClinicalTrials.gov Identifier: NCT03221088 Recruitment Status : Recruiting First Posted : July 18, 2017 Last

2017 Clinical Trials

11. Zinc and Iron in Children With Short Stature

centile or less than two standard deviations below the median height for that age and sex according to the population standard. Approximately 3% children in any population will be short, amongst which half will be physiological (familial or constitutional) and half will be pathological. It is estimated that approximately 60%-80% of all short children at or below 2standerd deviation fit the definition of idiopathic short stature. The growth and development of human require an adequate supply of many (...) Zinc and Iron in Children With Short Stature Zinc and Iron in Children With Short Stature - Full Text View - ClinicalTrials.gov Hide glossary Glossary Study record managers: refer to the if submitting registration or results information. Search for terms x × Study Record Detail Saved Studies Save this study Warning You have reached the maximum number of saved studies (100). Please remove one or more studies before adding more. Zinc and Iron in Children With Short Stature (zincandiron

2017 Clinical Trials

12. Etiological factors of short stature in children and adolescents: experience at a tertiary care hospital in Egypt (PubMed)

Egypt.We conducted this descriptive observational study from May 2012 to December 2015, to analyze 637 children (boys 354, girls 283) with short stature. Evaluation included: detailed medical history, physical examination, laboratory tests, bone age and chromosomal analysis.Endocrinological causes accounted for 26% of short stature [of them, 11.8% had growth hormone deficiency (GHD)], 63.6% had normal variants of growth [of them, 42% had familial short stature (FSS), 15.8% had constitutional growth (...) delay (CGD) and 5.5% a combination of both]. Interestingly, celiac disease (CD) constituted 6.6% of children with short stature in our cohort.Although potentially treatable causes such as GHD, hypothyroidism and CD accounted for a considerable percentage of short stature in our study, the majority of short stature in children had normal variations of growth. Growth hormone treatment in children, however, should be promptly initiated with specific clinical indications. CD is a not uncommon cause

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2017 Therapeutic advances in endocrinology and metabolism

13. Short Stature in Isodicentric Y Chromosome and Three Copies of the SHOX Gene: Clinical Report and Review of Literature (PubMed)

Short Stature in Isodicentric Y Chromosome and Three Copies of the SHOX Gene: Clinical Report and Review of Literature Short stature homeobox gene (SHOX) mutations and pseudoautosomal region 1 (PAR1) deletions encompassing SHOX are known causes of Léri-Weill dyschondrosteosis and isolated short stature, while 3 copies of SHOX in cases with triple sex chromosome constitution are responsible for tall stature. Duplications involving SHOX have been rarely reported, and they were found (...) in individuals with short, normal and tall stature. An adopted boy with short stature, isodicentric Y chromosome and 3 copies of SHOX is described. Normal growth hormone (GH) secretion and insulin-like growth factor 1 (IGF1) increase during an IGF1 generation test were found, ruling out impaired GH-IGF1 axis. No other organic or psychiatric causes of impaired growth were found. GH treatment improved linear growth, as reported in children with SHOX haploinsufficiency. This new report and the review

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2016 Molecular syndromology

14. Dominant Splice Site Mutations in PIK3R1 Cause Hyper IgM Syndrome, Lymphadenopathy and Short Stature (PubMed)

Dominant Splice Site Mutations in PIK3R1 Cause Hyper IgM Syndrome, Lymphadenopathy and Short Stature The purpose of this research was to use next generation sequencing to identify mutations in patients with primary immunodeficiency diseases whose pathogenic gene mutations had not been identified. Remarkably, four unrelated patients were found by next generation sequencing to have the same heterozygous mutation in an essential donor splice site of PIK3R1 (NM_181523.2:c.1425 + 1G > A) found (...) in three prior reports. All four had the Hyper IgM syndrome, lymphadenopathy and short stature, and one also had SHORT syndrome. They were investigated with in vitro immune studies, RT-PCR, and immunoblotting studies of the mutation's effect on mTOR pathway signaling. All patients had very low percentages of memory B cells and class-switched memory B cells and reduced numbers of naïve CD4+ and CD8+ T cells. RT-PCR confirmed the presence of both an abnormal 273 base-pair (bp) size and a normal 399 bp

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2016 Journal of clinical immunology

15. Short Stature

Short Stature Short Stature Toggle navigation Brain Head & Neck Chest Endocrine Abdomen Musculoskeletal Skin Infectious Disease Hematology & Oncology Cohorts Diagnostics Emergency Findings Procedures Prevention & Management Pharmacy Resuscitation Trauma Emergency Procedures Ultrasound Cardiovascular Emergencies Lung Emergencies Infectious Disease Pediatrics Neurologic Emergencies Skin Exposure Miscellaneous Abuse Cancer Administration 4 Short Stature Short Stature Aka: Short Stature , Short (...) Stature for Age , Delayed Linear Growth , Delayed Growth From Related Chapters II. Exam: General See See See See See Height Velocity See See III. Exam: Findings suggestive of collagen bone disease Examples Osteochondrodysplasia Metaphyseal dysostosis Extremely Short Disproportionate shortness ("Dwarf") Arms and legs short compared with trunk Proportionate shortness "China Doll" Shortness Abnormal measurements (See ) IV. Exam: Term Newborn Micropenis (size <2.8 cm stretched) Assess for deficiency

2018 FP Notebook

16. Truncating de novo mutations in the Krüppel-type zinc-finger gene ZNF148 in patients with corpus callosum defects, developmental delay, short stature, and dysmorphisms (PubMed)

Truncating de novo mutations in the Krüppel-type zinc-finger gene ZNF148 in patients with corpus callosum defects, developmental delay, short stature, and dysmorphisms Krüppel-type zinc finger genes (ZNF) constitute a large yet relatively poorly characterized gene family. ZNF genes encode proteins that recognize specific DNA motifs in gene promotors. They act as transcriptional co-activators or -repressors via interaction with chromatin remodeling proteins and other transcription factors. Only (...) ZNF148-associated syndrome is characterized by underdevelopment of the corpus callosum, mild to moderate developmental delay and ID, variable microcephaly or mild macrocephaly, short stature, feeding problems, facial dysmorphisms, and cardiac and renal malformations.We propose ZNF148 as a gene involved in a newly described ID syndrome with a recurrent phenotype and postulate that the ZNF148 is a hitherto unrecognized but crucial transcription factor in the development of the corpus callosum. Our

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2016 Genome medicine

17. Constitutional Short Stature

Constitutional Short Stature Constitutional Short Stature Toggle navigation Brain Head & Neck Chest Endocrine Abdomen Musculoskeletal Skin Infectious Disease Hematology & Oncology Cohorts Diagnostics Emergency Findings Procedures Prevention & Management Pharmacy Resuscitation Trauma Emergency Procedures Ultrasound Cardiovascular Emergencies Lung Emergencies Infectious Disease Pediatrics Neurologic Emergencies Skin Exposure Miscellaneous Abuse Cancer Administration 4 Constitutional Short Stature (...) Constitutional Short Stature Aka: Constitutional Short Stature From Related Chapters II. Signs and development in either parent (50%) Normal birth history Normal growth for the first several months Absence of organic or psychologic disease Discrete interval of severe growth deceleration Duration: 1-3 years Onset: under age 2 years Onset delayed Final height appropriate for genetic height potential III. Imaging: Bone Age Film lags Images: Related links to external sites (from Bing) These images are a random

2015 FP Notebook

18. Insulin response to intravenous glucagon in children with familial constitutional short stature. (PubMed)

Insulin response to intravenous glucagon in children with familial constitutional short stature. An intravenous glucagon test was performed in 8 children with familial constitutional short stature who were also lean. These children were randomly selected from a larger group of children with the same clinical manifestation and who had been shown to have a low insulin response to an oral glucose tolerance test and to an intravenous arginine test, without glucose intolerance. 7 out of 8 children

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1975 Archives of Disease in Childhood

19. The Effect of Recombinant Growth Hormone Treatment in Children with Idiopathic Short Stature and Low Insulin-Like Growth Factor-1 Levels (PubMed)

The Effect of Recombinant Growth Hormone Treatment in Children with Idiopathic Short Stature and Low Insulin-Like Growth Factor-1 Levels Idiopathic short stature (ISS) constitutes a heterogeneous group of short stature which is not associated with an endocrine or other identifiable cause. Some ISS patients may have varying degrees of insulin-like growth factor-1 (IGF-1) deficiency. Recombinant growth hormone (rGH) treatment has been used by some authors with variable results. Reports on long

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2015 Journal of clinical research in pediatric endocrinology

20. Etiologies and characteristics of children with chief complaint of short stature (PubMed)

variant short stature; that is, familial short stature (23.0%), constitutional delay in growth (17.7%), and mixed form (3.9%). Pathological short stature was found in 193 subjects (54.2%). Among pathological short stature, most common etiology was growth hormone deficiency (GHD) (38.9%).A majority of children had a normal height. Among children with short stature, pathological short stature and normal variants occupied a similar percentage. GHD was the most common cause of pathological short stature (...) Etiologies and characteristics of children with chief complaint of short stature Short stature is a very common reason for visits to pediatric endocrine clinics. It could be the first sign of an underlying disease. The purpose of this study is to investigate the etiologies and general characteristics of subjects who visited an outpatient clinic due to short stature.We retrospectively reviewed the medical records of 3,371 patients who visited Severance Children's Hospital with the chief

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2015 Annals of pediatric endocrinology & metabolism

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