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Familial Thyroid Dyshormonogenesis Type 1

Congenital Hypothyroidism due to Dyshormonogenesis 1


  • 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]
  • Family history of hypothyroidism or goiter is present in 20% of cases. Lack of circulating thyroid hormone activates TSH secretion, which causes overstimulation and hyperplasia of defective thyroid gland.[pathologyoutlines.com]
  • Autoimmune desctruction of thyroid gland Assoc: HLA-DR5 Most common cause of hypothyroid when sufficient iodine Presents Initial: hyp er thyroidism Destroy follicles TH stored in these leak into blood Then: hyp o thyroidism Stored TH run out Can't make[alancam.com]
  • Compare the presenting clinical symptoms and signs of hypothyroidism based on patient age, duration of disease, and cause of hypothyroidism.[pedsinreview.aappublications.org]
  • New chapters, expanded and updated coverage, increased worldwide perspectives, and many new contributors keep you current on the late preterm infant, the fetal origins of adult disease, neonatal anemia, genetic disorders, and more. "...a valuable reference[books.google.com]
  • (omim id:105650) Diamond-Blackfan anemia 10 (omim id:613309) Diamond-Blackfan anemia 3 (omim id:610629) Diamond-Blackfan anemia 4 (omim id:612527) Diamond-Blackfan anemia 5 (omim id:612528) Diamond-Blackfan anemia 8 (omim id:612563) Diamond-Blackfan[xgencloud.com]
  • Children develop life-threatening anemia. They do not gain weight and grow at the expected rate (failure to thrive) and may develop yellowing of the skin and whites of the eyes (jaundice).[gene-decode.com]
  • 1 2 Diamond-Blackfan Anemia 10 2 Diamond-Blackfan Anemia 11 2 Diamond-Blackfan Anemia 12 2 Diamond-Blackfan Anemia 3 2 Diamond-Blackfan Anemia 4 2 Diamond-Blackfan Anemia 5 2 Diamond-Blackfan Anemia 6 2 Diamond-Blackfan Anemia 7 2 Diamond-Blackfan Anemia[preventiongenetics.com]
  • 34565 157ds:H00480 Non-syndromic X-linked mental retardation21939 158ds:H00481 Cone-rod dystrophy and cone dystrophy, including: Cone-rod dystrophy (CORD); Cone dystrophy (COD); Retinal cone dystrophy (RCD)2120 159ds:H00490 Diaphyseal dysplasia with anemia[carlsbad.health.unm.edu]
  • 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]
  • In this process a sample of thyroid tissue is withdrawn and examined under a microscope by a pathologist. This usually takes a day or so.[medical-dictionary.thefreedictionary.com]
  • Salajegheh A, Petcu EB, Smith RA, Lam AK (2008) Follicular variant of papillary thyroid carcinoma: a diagnostic challenge for clinicians and pathologists. Postgrad Med J 84:78–82 PubMed Google Scholar 371.[link.springer.com]
Surgical Procedure
  • 2B) SLC26A4 [HSA: 5172 ] [KO: K14702 ] (Type 2B) FOXI1 [HSA: 2299 ] [KO: K09401 ] (Type 4) IYD [HSA: 389434 ] [KO: K17231 ] (Type 5) DUOXA2 [HSA: 405753 ] [KO: K17232 ] TG [HSA: 7038 ] [KO: K10809 ] (Type 6) DUOX2 [HSA: 50506 ] [KO: K13411 ] H00369 Exanthema[kegg.jp]
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]


  • […] in a young individual (often diagnosed due to routine screening of newborns for congenital hypothyroidism) Radiologic evaluation includes thyroid ultrasound and scintiscan Correlation of clinical signs with laboratory and ancillary tests Laboratory workup[pathologyoutlines.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 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]
  • Over-treatment is as deleterious as under-treatment. Treatment should target age-appropriate biochemical reference ranges. Primary CH may be permanent or transient depending on the cause; imaging studies help to determine aetiology.[starship.org.nz]
  • The initiation of treatment within first 2 weeks of life is crucial for the normal neurodevelopment. [31] Dosing Levothyroxine (L-T4) is the only recommended treatment for replacement therapy.[jcnonweb.com]
  • A T 4 less than 6.5 mcg/dL and a TSH greater than 20 mIU/L indicate abnormal values necessitating treatment with levothyroxine at a dose of 10 to 15 mcg/kg/day. 20 Treatment should be initiated as early as possible, since delayed treatment increases the[uspharmacist.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]


  • 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]
  • HURTHLE CELL TUMOR  Variant of follicular carcinoma  Contain Hurthle/Askanazy cells histologically  Poor prognosis 57. TREATMENT OF DTC  Treatment of differentiated thyroid cancer (DTC) depends upon: I. Preoperative diagnosis or II.[slideshare.net]


  • Pathophysiology The histopathology varies with the etiology and duration of the goiter.[ocw.tufts.edu]
  • The etiology of TD, which is the most common cause of CH, is largely unknown.[dovepress.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]
  • Unresolved questions The underlying etiology of thyroid dysgenesis remains largely unknown.[ojrd.biomedcentral.com]


  • 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]
  • 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]
  • 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]
  • 15%) after thyroid dysgenesis F M (2:1) Mean age at surgery is 16 years (range varies from neonates to sixth decade), with 80% cases occur before 25 years No racial or ethnic predilection ( Thyroid 2011;21:13 ) Sites Diffuse involvement of both lobes Pathophysiology[pathologyoutlines.com]
  • Pharmacotherapy: A Pathophysiologic Approach. 7th ed. New York, NY: McGraw-Hill Medical; 2008:1254-1256. 3. AACE Thyroid Task Force.[uspharmacist.com]
  • Molecular features, pathophysiology and clinical implications. Virchows Arch 431:1–9 PubMed Google Scholar 206.[link.springer.com]
  • Google Scholar GeneTests: [ ] EuroGentest: [ ] 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[ojrd.biomedcentral.com]


  • If a patient who tests positive for the RET gene refuses preventative surgery, they will need regular blood tests to monitor calcitonin levels and scans of the neck to check for growths.[yourhormones.info]
  • Prevention Because most people with thyroid cancer have no known risk factor, it is not possible to completely prevent this disease. However, inherited cases of medullary thyroid cancer can be prevented and radiation to the neck is avoided.[medical-dictionary.thefreedictionary.com]
  • Available from: Introduction Congenital hypothyroidism (CH) is one of the most common causes of preventable mental retardation.[jcnonweb.com]
  • In cases of familial hyperinsulinism, octreotide is used during pregnancy to prevent severe hypoglycemia with the inherent risk of coma and death.[edmcasereports.com]
  • Background The early detection and treatment of congenital hypothyroidism (CH) prevents intellectual disability and optimises growth and developmental outcomes. The majority of cases will be detected by newborn screening.[starship.org.nz]

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