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Familial Thyroid Dyshormonogenesis 6


  • Features of the Color Atlas of Pediatric Pathology include: Comprehensive coverage of pediatric surgical and autopsy pathology Each chapter is presented by a recognized expert Practical presentation: concise text highlights diagnostic features making[books.google.com]
  • In addition to features of hypothyroidism, patients with dyshormonogenesis can present with goiter.[orpha.net]
  • Presents the work of many new contributors for fresh perspectives on the current state of pediatric endocrinology. Provides new tables of normal values and growth charts for monitoring your patients progress.[books.google.com]
  • The Color Atlas of Pediatric Pathology is a practical working resource for every pathologist who sees pediatric cases as well as the pathology trainee.[books.google.com]
  • Page 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]
Pediatric Disorder
  • Abstract Background/Aims: Congenital primary hypothyroidism (CH) is a rare pediatric disorder estimated to occur in about 1:2,500 live births.[karger.com]
  • Discussion Congenital hypothyroidism is the most common neonatal metabolic disorder and results in severe neurodevelopmental impairment and infertility if untreated.[atm.amegroups.com]
  • Updated clinical guidelines for diabetes, lipid disorders, obesity management, osteoporosis, and more, as well as essential treatment updates for the medical management of acromegaly, Cushing's Disease, hypercalcemia, and diabetes mellitus.[books.google.com]
  • […] demonstrated by suppressed TSH) for prolonged period should be avoided as it may increase the risk of craniosynostosis, advanced bone growth which may lead to deceleration in linear growth, temperamental problems (hyperactivity) brain dysfunction and osteoporosis[thetrp.net]
Hydrops Fetalis
  • Stay at the forefront of your field thanks to new and completely revised chapters covering topics such as: Principles and Practice l Immune and Non-immune Hydrops Fetalis l Amniotic Fluid Volume l Enhancing Safe Prescribing in the Neonatal Intensive Care[books.google.com]


  • Radiological Workup The imaging modalities such as ultrasound and scintigraphy can help in defining the etiology of CH and also predict whether it is transient or permanent type of CH.[jcnonweb.com]


  • Make the best clinical decisions with an enhanced emphasis on evidence-based practice and expert opinions on treatment strategies. Zero in on the most relevant and useful references with the aid of a more focused, concise bibliography.[books.google.com]
  • Management and treatment Levothyroxine is the treatment of choice (starting dose 10-15mcg/kg/day), with the immediate goal to raise the serum T4 above 130 nmol/L (10 ug/dL) as rapidly as possible; with these doses, serum TSH usually normalizes in 2-4[orpha.net]
  • Make informed clinical choices for each patient, from diagnosis and treatment selection through post-treatment strategies and management of complications, with new evidence-based criteria throughout.[books.google.com]
  • OMIM includes the following: Treatment [ edit ] These patients respond well to thyroxine and the goitre may decrease in size if any. They may not require surgery at any time. References [ edit ] External links [ edit ][en.wikipedia.org]


  • Prognosis The prognosis of infants started on treatment early is excellent, with IQs similar to sibling or classmate controls.[orpha.net]
  • Delineate the prognosis for patients who have primary and central hypothyroidism and the variable influences that age at diagnosis and duration of disease prior to diagnosis have on outcome.[pedsinreview.aappublications.org]
  • . -80% of thyroid carcinoma -women of reproductive age -presents as a painless nodule or mass in the neck -cold spot on scan -risk factors: ionizing radiation before age 20 or Hashimoto -good prognosis -Tx: total thyroidectomy Describe the pathological[quizlet.com]


  • Etiology Dyshormonogenesis is caused by hereditary defects in the steps of thyroid hormone synthesis and secretion, the majority of which are transmitted in an autosomal recessive manner but at least one condition has autosomal dominant inheritance.[orpha.net]
  • Etiological diagnosis of congenital hypothyroidism.[rb.org.br]
  • Pathophysiology The histopathology varies with the etiology and duration of the goiter.[ocw.tufts.edu]
  • The scintigram uptake can help in diagnosing the underlying etiology of CH.[jcnonweb.com]


  • Summary Epidemiology Thyroid dyshormonogenesis accounts for 10-15% of permanent congenital hypothyroidism (see this term). Clinical description Clinical manifestations are those of other forms of congenital hypothyroidism (see this term).[orpha.net]
  • Foley Jr , MD * * Professor of Pediatrics, School of Medicine, Professor of Epidemiology, School of Public Health, University of Pittsburgh, Children’s Hospital of Pittsburgh, Pittsburgh, PA Objectives After completing this article, readers should be[pedsinreview.aappublications.org]
  • Relevant External Links for IYD Genetic Association Database (GAD) IYD Human Genome Epidemiology (HuGE) Navigator IYD Atlas of Genetics and Cytogenetics in Oncology and Haematology: IYD No data available for Genatlas for IYD Gene Iodotyrosine dehalogenase[genecards.org]
Sex distribution
Age distribution


  • Pathophysiology The histopathology varies with the etiology and duration of the goiter.[ocw.tufts.edu]
  • Pharmacotherapy: A Pathophysiologic Approach. 7th ed. New York, NY: McGraw-Hill Medical; 2008:1254-1256. 3. AACE Thyroid Task Force.[uspharmacist.com]
  • Perry R, Heinrichs C, Bourdoux P, Khoury K, Szots F, Dussault JH, Vassart G, Van Vliet G: Discordance of monozygotic twins for thyroid dysgenesis: implications for screening and for molecular pathophysiology.[karger.com]


  • Is chronic lung disease in low birth weight infants preventable? A survey of eight centers. ‎ Página 84 - Tanner JM, Whitehouse RH, Marubini E, Resele LF. The adolescent growth spurt of boys and girls of the Harpenden growth study. ‎[books.google.es]
  • Available from: Introduction Congenital hypothyroidism (CH) is one of the most common causes of preventable mental retardation.[jcnonweb.com]
  • Proper genetic counseling and universal screening for CH can prevent devastating later consequences. REFERENCES Rastogi MV, LaFranchi SH. Congenital hypothyroidism.[ijcasereportsandimages.com]
  • Immediate diagnosis & treatment with thyroxine is must to prevent physical & mental under-development b. Iodized salt in sporadic cases c. Biochemical screening of neonates using TSH & T4 assays on a heel-prick blood sample d.[slideshare.net]
  • Early institution of therapy in these patients can prevent mental retardation and other features of hypothyroidism.[indianpediatrics.net]

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