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Constitutional Short Stature

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21. Clinical Study of Pegylated Somatropin (PEG Somatropin) to Treat SGA Children With Short Stature

Clinical Study of Pegylated Somatropin (PEG Somatropin) to Treat SGA Children With Short Stature Clinical Study of Pegylated Somatropin (PEG Somatropin) to Treat SGA 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. Clinical Study of Pegylated Somatropin (PEG Somatropin) to Treat SGA Children With 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. Read our for details. ClinicalTrials.gov Identifier: NCT02375620 Recruitment Status : Unknown Verified January 2015 by GeneScience Pharmaceuticals Co., Ltd.. Recruitment status

2015 Clinical Trials

22. A missense mutation in PPP1R15B causes a syndrome including diabetes, short stature and microcephaly. (PubMed)

A missense mutation in PPP1R15B causes a syndrome including diabetes, short stature and microcephaly. Dysregulated endoplasmic reticulum stress and phosphorylation of eukaryotic translation initiation factor 2α (eIF2α) are associated with pancreatic β-cell failure and diabetes. Here, we report the first homozygous mutation in the PPP1R15B gene (also known as constitutive repressor of eIF2α phosphorylation [CReP]) encoding the regulatory subunit of an eIF2α-specific phosphatase in two siblings (...) affected by a novel syndrome of diabetes of youth with short stature, intellectual disability, and microcephaly. The R658C mutation in PPP1R15B affects a conserved amino acid within the domain important for protein phosphatase 1 (PP1) binding. The R658C mutation decreases PP1 binding and eIF2α dephosphorylation and results in β-cell apoptosis. Our findings support the concept that dysregulated eIF2α phosphorylation, whether decreased by mutation of the kinase (EIF2AK3) in Wolcott-Rallison syndrome

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2015 Diabetes

23. Balanced Reciprocal Translocation t(X;1) in a Girl with Tall Stature and Primary Amenorrhea (PubMed)

Balanced Reciprocal Translocation t(X;1) in a Girl with Tall Stature and Primary Amenorrhea Chromosomal translocations constitute one of the most important, yet uncommon, causes of primary amenorrhea and gonadal dysgenesis. Although X-autosome translocations are frequently associated with streak gonads and clinical features of the Turner syndrome, the majority of X-autosome carriers may present with a variable phenotype, developmental delay, and recognizable X-linked syndrome due to nonrandom X (...) with a hypoplastic uterus were noted. Chromosome study, performed according to routine procedures, revealed an apparently balanced reciprocal translocation involving the short arm of chromosome 1(p2) and the long arm of the X chromosome (q2) in all the cells with the following karyotype: 46,X,t(1;X)(p13;q22). She was placed on hormone replacement therapy. In our patient, X-autosome translocation was associated with gonadal dysgenesis and tall stature. We conclude that t(X;1) may be associated with gonadal

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2017 Iranian journal of medical sciences

24. Tall stature: a difficult diagnosis? (PubMed)

Tall stature: a difficult diagnosis? Referral for an assessment of tall stature is less common than for short stature. Tall stature is defined as a height more than two standard deviations above the mean for age. The majority of subjects with tall stature show a familial tall stature or a constitutional advance of growth (CAG), which is a diagnosis of exclusion. After a careful physical evaluation, tall subjects may be divided into two groups: tall subjects with normal appearance and tall (...) subjects with abnormal appearance. In the case of normal appearance, the paediatric endocrinologist will have to evaluate the growth rate. If it is normal for age and sex, the subject may be classified as having familial tall stature, CAG or obese subject, while if the growth rate is increased it is essential to evaluate pubertal status and thyroid status. Tall subjects with abnormal appearance and dysmorphisms can be classified into those with proportionate and disproportionate syndromes.A careful

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2017 Italian journal of pediatrics

25. The etiology of short stature affects the clinical outcome of lower limb lengthening using external fixation. A systematic review of 18 trials involving 547 patients. (PubMed)

with achondroplasia/hypochondroplasia (A/H) (14.5 years) than for those with Turner's syndrome (TS) (18.2 years) or with constitutional short stature (CSS) (21.7 years). Mean height gained was greater in patients with A/H (9.5 cm) than in those with TS (7.7 cm) or CSS (6.1 cm) group. The HI was better in A/H (30.8 days/cm) and CSS (32 days/cm) than in TS (45.1 days/cm). The reported complication rate per segment was lower for A/H (0.68) and TS (0.71) than for CSS (1.06).Patients with A/H tolerated larger amounts (...) The etiology of short stature affects the clinical outcome of lower limb lengthening using external fixation. A systematic review of 18 trials involving 547 patients. Distraction osteogenesis (DO) has been used to gain height in short statured individuals. However, there have been no studies comparing the clinical outcome of limb lengthening based on the etiology of the short stature. We assessed whether different underlying diagnoses are associated with varied clinical outcomes

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2014 Acta Orthopaedica

26. Etiologies and Early Diagnosis of Short Stature and Growth Failure in Children and Adolescents. (PubMed)

familial short stature, constitutional delay of growth and puberty, and small for gestational age with catch-up growth. Pathological causes of abnormal growth include many systemic diseases and their treatments, growth hormone deficiency, and a series of genetic syndromes, including Noonan syndrome and Turner syndrome. Children with short stature in whom no specific cause is identified may be diagnosed with idiopathic short stature. Early identification of abnormal growth patterns and prompt referral (...) Etiologies and Early Diagnosis of Short Stature and Growth Failure in Children and Adolescents. Accurate measurement of height and weight using standardized techniques is a fundamental component of pediatric medical visits. Calculation of height velocity over time enables comparison with standardized growth charts to identify potential deviations from normal. Growth deviations may be expressed as SD from the normal population mean for children of comparable age and sex; children with heights >2

2014 Journal of Pediatrics

27. Short Stature (Diagnosis)

subpopulations (including Asians and blacks), and the most common genetic disorders (eg, , Ullrich-Turner syndrome, ). The causes of short stature can be divided into 3 broad categories: chronic disease (including undernutrition genetic disorders), familial short stature, and constitutional delay of growth and development. Endocrine diseases are rare causes of short stature (see Frequency). The hallmark of endocrine disease is linear GF that occurs to a greater degree than weight loss. Most short children (...) evaluated by clinicians in developed countries have familial short stature, constitutional growth delay, or both. Short stature and constitutional growth delay are diagnoses of exclusion. The hallmarks of familial short stature (also referred to as genetic short stature) include bone age appropriate for chronologic age, normal growth velocity, and predicted adult height appropriate to the familial pattern (using the Bayley-Pinneau or Tanner-Goldstein-Whitehouse tables). By contrast, constitutional

2014 eMedicine Pediatrics

28. Short Stature (Overview)

subpopulations (including Asians and blacks), and the most common genetic disorders (eg, , Ullrich-Turner syndrome, ). The causes of short stature can be divided into 3 broad categories: chronic disease (including undernutrition genetic disorders), familial short stature, and constitutional delay of growth and development. Endocrine diseases are rare causes of short stature (see Frequency). The hallmark of endocrine disease is linear GF that occurs to a greater degree than weight loss. Most short children (...) evaluated by clinicians in developed countries have familial short stature, constitutional growth delay, or both. Short stature and constitutional growth delay are diagnoses of exclusion. The hallmarks of familial short stature (also referred to as genetic short stature) include bone age appropriate for chronologic age, normal growth velocity, and predicted adult height appropriate to the familial pattern (using the Bayley-Pinneau or Tanner-Goldstein-Whitehouse tables). By contrast, constitutional

2014 eMedicine Pediatrics

29. Short Stature (Treatment)

: Prevention Growth evaluation is a useful means of detecting chronic disease in children. Previous Next: Long-Term Monitoring The proper evaluation of short stature is conducted in an outpatient setting with a calibrated stadiometer. The most useful information in the evaluation of a child with short stature is the child's growth pattern (see image below). Comparison of the growth patterns between idiopathic short stature and constitutional growth delay. In children younger than 3 years, track length (...) S, Madlon-Kay DJ. Growth Hormone for Treatment of Idiopathic Short Stature in Children. Am Fam Physician . 2015 Jul 1. 92 (1):64. . Wit JM, Oostdijk W. Novel approaches to short stature therapy. Best Pract Res Clin Endocrinol Metab . 2015 Jun. 29 (3):353-66. . Media Gallery Proper use of a wall-mounted stadiometer. Comparison of the growth patterns between idiopathic short stature and constitutional growth delay. Bone age comparison between an 8-year-old boy (left) and a 14-year-old adolescent

2014 eMedicine Pediatrics

30. Short Stature (Follow-up)

: Prevention Growth evaluation is a useful means of detecting chronic disease in children. Previous Next: Long-Term Monitoring The proper evaluation of short stature is conducted in an outpatient setting with a calibrated stadiometer. The most useful information in the evaluation of a child with short stature is the child's growth pattern (see image below). Comparison of the growth patterns between idiopathic short stature and constitutional growth delay. In children younger than 3 years, track length (...) S, Madlon-Kay DJ. Growth Hormone for Treatment of Idiopathic Short Stature in Children. Am Fam Physician . 2015 Jul 1. 92 (1):64. . Wit JM, Oostdijk W. Novel approaches to short stature therapy. Best Pract Res Clin Endocrinol Metab . 2015 Jun. 29 (3):353-66. . Media Gallery Proper use of a wall-mounted stadiometer. Comparison of the growth patterns between idiopathic short stature and constitutional growth delay. Bone age comparison between an 8-year-old boy (left) and a 14-year-old adolescent

2014 eMedicine Pediatrics

31. Constitutive stimulatory G protein activity in limb mesenchyme impairs bone growth. (PubMed)

Constitutive stimulatory G protein activity in limb mesenchyme impairs bone growth. GNAS mutations leading to constitutively active stimulatory G protein alpha-subunit (Gsα) cause different tumors, fibrous dysplasia of bone, and McCune-Albright syndrome, which are typically not associated with short stature. Enhanced signaling of the parathyroid hormone/parathyroid hormone-related peptide receptor, which couples to multiple G proteins including Gsα, leads to short bones with delayed (...) of the transgene in double mutant offspring. We then crossed the cGsαR201H mice with Prx1-Cre mice, in which Cre is expressed in early limb-bud mesenchyme. The double mutant offspring displayed short limbs at birth, with narrow hypertrophic chondrocyte zones in growth plates and delayed formation of secondary ossification center. Consistent with enhanced Gsα signaling, bone marrow stromal cells from these mice demonstrated increased levels of c-fos mRNA. Our findings indicate that constitutive Gsα activity

2018 Bone

32. Causes of short stature identified in children presenting at a tertiary care hospital in Multan Pakistan (PubMed)

diabetes mellitus (IDDM) 16(9.5%) and constitutional delayed growth and maturation (CDGM) 11(6.5%) cases. This was followed by primary malnutrition 8(4.7%), celiac disease 6(3.6%),Turner syndrome 5(3%) cases and unknown syndromes 4(2.4%) followed by other rare causes.Common causes of short stature identified in this study were endocrine diseases followed by normal variant short stature (NVSS), while nonendocrine causes were the least. (...) Causes of short stature identified in children presenting at a tertiary care hospital in Multan Pakistan To determine the frequency of common causes of short stature in children presenting to the Children's Hospital & the Institute of Child Health, Multan.This cross sectional study was done in Pediatric Endocrinology department, the Children's Hospital & the Institute of Child Health, Multan, from March to September, 2011. One hundred and sixty nine children with short stature presenting

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2013 Pakistan Journal Of Medical Sciences

33. Constitutional Mosaic Trisomy 13 in Two Germ Cell Layers is Different from Patau Syndrome? A Case Report (PubMed)

with the Human Phenotype Ontology terms that were used to query web-based tool Phenomizer. We report here a case of 24-year-old girl born to non consanguineous parents with history of one abortion. Her phenotypic evaluation included short columella, low-set ears, seizures, enlarged naris, bifid tongue, infra-orbital fold, smooth philtrum, microtia, microcephaly, carious teeth, downslanted palpebral fissures, proportionate short stature, high palate, thin upper lip vermilion, small for gestational age, broad (...) Constitutional Mosaic Trisomy 13 in Two Germ Cell Layers is Different from Patau Syndrome? A Case Report The heterogeneous phenotype of known syndromes is a clinical challenge, and harmonized description using globally accepted ontology is desirable. This report attempts phenotypic analysis in a patient of constitutional mosaic trisomy 13 in mesoderm and ectoderm to make globally comparable clinical description. Phenotypic features (minor/major abnormalities) were recorded and matched

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2016 Journal of clinical and diagnostic research : JCDR

34. 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

2015 FP Notebook

35. Targeted Resequencing of the Pericentromere of Chromosome 2 Linked to Constitutional Delay of Growth and Puberty (PubMed)

Targeted Resequencing of the Pericentromere of Chromosome 2 Linked to Constitutional Delay of Growth and Puberty Constitutional delay of growth and puberty (CDGP) is the most common cause of pubertal delay. CDGP is defined as the proportion of the normal population who experience pubertal onset at least 2 SD later than the population mean, representing 2.3% of all adolescents. While adolescents with CDGP spontaneously enter puberty, they are at risk for short stature, decreased bone mineral

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2015 PloS one

36. A double-blind, placebo-controlled comparison of letrozole to oxandrolone effects upon growth and puberty of children with constitutional delay of puberty and idiopathic short stature. (PubMed)

A double-blind, placebo-controlled comparison of letrozole to oxandrolone effects upon growth and puberty of children with constitutional delay of puberty and idiopathic short stature. Constitutional delay of growth and puberty (CDGP) with short stature is one of the most common problems in pediatrics. We compared the effects of letrozole with that of oxandrolone on predicted adult height (PAH), puberty, bone mineral density, serum insulin-like growth factor 1 (IGF-1) and blood lipoproteins.In (...) a prospective, double-blind, randomized, placebo-controlled clinical trial, 91 CDGP boys (12.6-14.6 years old) with predicted short stature were treated with letrozole (2.5 mg/day), oxandrolone (2.5 mg/day), or placebo, at the outpatient pediatric endocrine clinic of Mofid Children's Hospital in Tehran for 2 years.Letrozole differed from oxandrolone and placebo in significantly increasing PAH (p < 0.05), and slightly but significantly decreasing HDL-cholesterol. Oxandrolone, and to a lesser degree letrozole

2010 Hormone research in paediatrics Controlled trial quality: uncertain

37. Vertebral morphology in aromatase inhibitor-treated males with idiopathic short stature or constitutional delay of puberty. (PubMed)

Vertebral morphology in aromatase inhibitor-treated males with idiopathic short stature or constitutional delay of puberty. Aromatase inhibitors (AIs), blockers of estrogen biosynthesis, delay bone maturation and therefore are used increasingly to promote growth in children and adolescents with growth disorders. The effects of treatment on skeletal health are largely unknown. Since estrogen deficiency is associated with various detrimental skeletal effects, we evaluated in this cross-sectional (...) posttreatment study vertebral body morphology, dimensions and endplates, and intervertebral disks by the use of magnetic resonance imaging (MRI) in two cohorts of males previously treated with the AI letrozole or placebo. Males with idiopathic short stature received treatment with letrozole or placebo for 2 years during prepuberty or early puberty; males with constitutional delay of puberty received letrozole or placebo in combination with low-dose testosterone for 1 year during early or midpuberty

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2010 Journal of bone and mineral research : the official journal of the American Society for Bone and Mineral Research Controlled trial quality: uncertain

38. Prevalence of Attention Deficit Disorder Among Patients With Constitutional Growth Delay

First Posted : December 31, 2014 Last Update Posted : December 31, 2014 Sponsor: Meir Medical Center Information provided by (Responsible Party): Dror Nitsan, Meir Medical Center Study Details Study Description Go to Brief Summary: The aim of the our study is to investigate whether there is an increased incidence of ADHD ( based on self reports and questionnaires) among children with short stature due to constitutional growth delay (CGD) in comparison with children with Familial short stature (...) provided by the National Library of Medicine related topics: Groups and Cohorts Go to Group/Cohort children with constitutional growth delay children with Familial short stature Outcome Measures Go to Primary Outcome Measures : incidence of ADHD among children with short stature due to constitutional growth delay (CGD) in comparison with children with Familial short stature [ Time Frame: single point in time during the visit at the endocrine clinic ] Eligibility Criteria Go to Information from

2014 Clinical Trials

39. Constitutional Growth Delay (Diagnosis)

> Constitutional Growth Delay Updated: Jan 08, 2019 Author: Pamela A Clark, MD; Chief Editor: Sasigarn A Bowden, MD Share Email Print Feedback Close Sections Sections Constitutional Growth Delay Overview Practice Essentials Children with constitutional growth delay (CGD), the most common cause of short stature and pubertal delay, [ ] typically have retarded linear growth within the first 3 years of life. In this variant of normal growth, linear growth velocity and weight gain slows beginning as young as age 3 (...) -6 months, resulting in downward crossing of growth percentiles, which often continues until age 2-3 years. At that time, growth resumes at a normal rate, and these children grow either along the lower growth percentiles or beneath the curve but parallel to it for the remainder of the prepubertal years. See the image below. Comparison of the growth patterns between idiopathic short stature and constitutional growth delay. At the expected time of puberty, the height of children with constitutional

2014 eMedicine Pediatrics

40. Constitutional Growth Delay (Treatment)

their limitations in competition with larger, stronger peers. Adolescents who wish to participate in weight lifting or resistance-training activities should use lower weights with greater repetitions to avoid undue stress on immature growth plates. Previous References Sultan M, Afzal M, Qureshi SM, et al. Etiology of short stature in children. J Coll Physicians Surg Pak . 2008 Aug. 18(8):493-7. . Rohani F, Alai MR, Moradi S, Amirkashani D. Evaluation of near final height in boys with constitutional delay (...) in growth and puberty. Endocr Connect . 2018 Mar. 7 (3):456-9. . . Banerjee I, Hanson D, Perveen R, Whatmore A, Black GC, Clayton PE. Constitutional delay of growth and puberty is not commonly associated with mutations in the acid labile subunit gene. Eur J Endocrinol . 2008 Apr. 158(4):473-7. . Rothermel J, Lass N, Toschke C, Reinehr T. Progressive Decline in Height Standard Deviation Scores in the First 5 Years of Life Distinguished Idiopathic Growth Hormone Deficiency from Familial Short Stature

2014 eMedicine Pediatrics

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