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SHOX-Related Short Stature

X-Linked Idiopathic Short Stature


Presentation

  • Invaluable tables summarize the critical factors in etiology, clinical presentation, diagnosis, and therapeutic dosages.[books.google.com]
  • The SHOX Gene The SHOX gene is present on both the X and Y sex chromosomes, in a location called the pseudoautosomal region. This region is so-called because it is comprised of homologous sequences which are present on both sex chromosomes.[brighthub.com]
  • “She did not menstruate until she was 30 years old and still presented with breast and pubic hair at Tanner stage 3.”[naturalheightgrowth.com]
  • At the present time we are analyzing different cell systems and animal models (mouse, frog, chicken) to better understand the function of SHOX during bone development and the exploitation of the molecular signal pathway.[klinikum.uni-heidelberg.de]
  • For this review, abstracts of 207 publications presented by PubMed for the search term ‘SHOX’ were screened.[karger.com]
Physician
  • […] clinical management of pediatric endocrine disorders, the second edition of the highly regarded Pediatric Endocrinology: A Practical Clinical Guide covers the most common and challenging conditions seen by practicing endocrinologists and primary care physicians[books.google.com]
  • This study provides information to doctors prescribing growth hormone to treat children and adolescents, ultimately helping physicians to use these products more effectively.[chp.edu]
  • Years Published 1992, 1999, 2002, 2016 The information in NORD’s Rare Disease Database is for educational purposes only and is not intended to replace the advice of a physician or other qualified medical professional.[rarediseases.org]
  • Resource links provided by the National Library of Medicine Treated Participants treated with somatropin for improvement of growth Drug: Somatropin (recombinant deoxyribonucleic acid [rDNA] origin) Dose, frequency and duration at discretion of attending physician[clinicaltrials.gov]
Anorexia
  • الصفحة 50 - Hambidge KM, Hambidge C, Jacobs M, Baum JD: Low levels of zinc in hair, anorexia, poor growth and hypogeusia in children. ‏[books.google.com]
  • […] pulmonary disease Restrictive lung disease Renal Chronic renal insufficiency Renal failure Renal tubular acidosis Psychosocial dwarfism Chronic neglect Starvation Differential Diagnoses 3-M Syndrome Achondrogenesis Achondroplasia Imaging Adrenal Hypoplasia Anorexia[emedicine.staging.medscape.com]
  • Anorexia nervosa. Rickets. Psychosocial deprivation, including hyperphagic short stature syndrome. Medication: steroid therapy. Assessment [ 3, 4 ] History A comprehensive history starting in the prenatal and perinatal periods should be obtained.[patient.info]
Loss of Appetite
  • […] doctor or health care practitioner: Child has stopped growing or is growing slower than expected (less than 4 cm, or 2 in, each year in the pre-pubertal child of elementary school age) Weight loss or gain (more than 5 lbs in a month) Poor nutrition /loss[emedicinehealth.com]

Treatment

  • The effects of treatment with recombinant human growth hormone on body composition and metabolism in adults with growth hormone deficiency. ‏ الصفحة 342 - Azziz R.[books.google.com]
  • Treatment for restricted growth Treatment with growth hormone injections may benefit some people with restricted growth and can help a child with the condition grow more than they otherwise would.[nhsdirect.wales.nhs.uk]
  • Medical Treatment Medical Treatment Medical treatment depends on the cause of short stature. For children with normal variant short stature, generally no treatment is necessary.[emedicinehealth.com]
  • These results could open up new possibilities for diagnosing the cause of short stature and initiating treatment before it is too late.[sciencedaily.com]
  • For girls with Turner syndrome, oxandrolone, an anabolic steroid, may be added to growth hormone treatment.[nice.org.uk]

Prognosis

  • Outlook The prognosis for persons with normal variant short stature is excellent.[emedicinehealth.com]
  • ., Robinson A. 47,XXX: what is the prognosis? Pediatrics 1988, 82 : 619–630. PubMed Google Scholar 6. Ullrich O. Uber typsiche kombinationsbilder multipler. Abartung Kinderheilkunde 1930, 49 : 271–276. CrossRef Google Scholar 7. Turner H.H.[link.springer.com]

Etiology

  • Invaluable tables summarize the critical factors in etiology, clinical presentation, diagnosis, and therapeutic dosages.[books.google.com]
  • Certain conditions have both an underlying etiology and multiple body system manifestations due to the underlying etiology.[icd10coded.com]
  • AB - The etiology of idiopathic short stature (ISS) and Leri-Weill dyschondrosteosis (LWD) in European patients is known to include SHOX mutations and copy-number variations (CNVs) involving SHOX and/or the highly evolutionarily conserved non-coding DNA[keio.pure.elsevier.com]
  • Additional molecular analysis is required to diagnose and understand the etiology of this disease. Keywords: Molecular sequence Idiopathic short stature SHOX gene Anthropometric measures[kjp.or.kr]
  • “Congenital hypothyroidism: etiologies, diagnosis, and management”. Thyroid. vol. 9. 1999. pp. 735-740. Fava, A, Oliverio, R, Giuliano, S. “Clinical evolution of autoimmune thyroiditis in children and adolescents”.[endocrinologyadvisor.com]

Epidemiology

  • Relevant External Links for SHOX Genetic Association Database (GAD) SHOX Human Genome Epidemiology (HuGE) Navigator SHOX Atlas of Genetics and Cytogenetics in Oncology and Haematology: SHOX No data available for Genatlas for SHOX Gene Pseudoautosomal[genecards.org]
  • Prevalence and epidemiology of overweight and obesity in children with inflammatory bowel disease. Inflamm Bowel Dis ;17:2162-8. Seth A, Aggarwal V, Maheshwari A.[ebook.ecog-obesity.eu]
  • […] abnormalities in patients with Leri-Weill dyschondrosteosis and in patients with Langer mesomelic dysplasia. 14–16 These mutations were also mentioned as the cause of the growth retardation in some individuals with idiopathic short stature (ISS). 17 Epidemiology[elsevier.es]
Sex distribution
Age distribution

Pathophysiology

  • This article evaluates the current knowledge of the SHOX gene role in TS pathophysiology.[elsevier.es]

Prevention

  • Abbreviations: ACTH : adrenocorticotropic hormone CDC : Centers for Disease Control and Prevention CDGP : constitutional delay of growth and puberty CNS : central nervous system FSS : familial short stature GH : growth hormone GnRH : gonadotropin-releasing[pedsinreview.aappublications.org]
  • Giardino, MD, MPH, PhD is a member of the following medical societies: Academic Pediatric Association , American Academy of Pediatrics , American Professional Society on the Abuse of Children , Harris County Medical Society , International Society for the Prevention[emedicine.staging.medscape.com]
  • Somatropin treatment may stop once your child stops growing, but in some cases it may be given into adulthood because it can sometimes help prevent problems such as weak bones (osteoporosis) .[nhsdirect.wales.nhs.uk]
  • It also allows for an optimal introduction of psychological and educational support to prevent differences in educational and social status opportunities.[journals.viamedica.pl]
  • It promotes lipolysis and prevents lipogenesis and together with IGF1 plays a key role in preadipocytes proliferation, differentiation and senescence.[ebook.ecog-obesity.eu]

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