[…] and 4 children (30.76%) presented with etiological diagnosis of thyroid hypoplasia (Figures 4 and 5). [rb.org.br]

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]

Compare the presenting clinical symptoms and signs of hypothyroidism based on patient age, duration of disease, and cause of hypothyroidism. [pedsinreview.aappublications.org]

• Goiter

  Endemic goiter is defined as thyroid enlargement in more than 10% of the population while sporadic goiter is a result of factors that do not affect the general population. Nontoxic goiter is more common in women than men. 3.1. [ocw.tufts.edu]

  These features were consistent with dyshormonogenetic goiter. [atm.amegroups.com]

  The presence in a thyroid gland of the combination of these morphologic features should suggest the diagnosis of dyshormonogenetic goiter. [link.springer.com]

  Pommier J et al. (1974) A defective thyroid peroxidase solubilized from a familial goiter with iodine organification defect. [ ] 23. None (1983) Congenital goiter with defective iodide transport. [ ] 24. [moldiag.com]

  1) HPT hyperfunction -- increase in TSH 2) Thyroid neoplasm: cold nodules What is a goiter? What are the causes of a goiter? A goiter is a general term for enlargement of the thyroid gland. [quizlet.com]

• Myxedema

  […] hypothyroidism, Cretinism, De Quervain's thyroiditis, Euthyroid, Euthyroid sick syndrome, Familial dysalbuminemic hyperthyroxinemia, Goitre, Goitrogen, Graves' ophthalmopathy, Hashimoto's thyroiditis, Hashitoxicosis, Hyperthyroxinemia, Maternal hypothyroidism, Myxedema [vod.drsha.com]

  Hypothyroidism: Infantile (cretinism) and adult (myxedema and dyshormonogenesis) 2. Goitre (Thyroid enlargement) 3. Hyperthyroidism 14. [slideshare.net]

  1) Malignant exopthalmos 2) Pretibilar myxedema 3) Thyrotoxicosis -- cardiac arrhythmia, CHF A combination of hyperthyroidism, nodular goiter, and absence of exopthalmos. [quizlet.com]

  Graves dermopathy (pretibial myxedema) in children is virtually nonexistent. The thyroid hormone profile characteristically shows elevated T4 and T3 levels, accompanied by very low or undetectable levels of TSH. [hawaii.edu]

  Such pericardial effusions from myxedema typically resolve within a month of attaining euthyroidism. No restriction of activity is required for patients with hypothyroidism who are euthyroid on replacement therapy. [reference.medscape.com]

• Progressive Polyneuropathy

  Polyneuropathy Type); THMD4 OMIM:614458 Thiamine Metabolism Dysfunction Syndrome 5 (episodic Encephalopathy Type); THMD5 OMIM:249270 Thiamine-Responsive Megaloblastic Anemia Syndrome; TRMA OMIM:165700 Thiemann Disease OMIM:610460 Thiopurines, Poor Metabolism [informatics.jax.org]

• Cyanosis

  Peripheral cyanosis and mottling. Fifth Week to Third Month Failure to gain weight. Constipation. Generalized edema, more over genitals. Very low pitched prolonged cry. Umbilical hernia. Little perspiration. [thetrp.net]

• Sparse Hair

  Hair OMIM:273000 Teeth, Fused OMIM:273050 Teeth, Noneruption of, with Maxillary Hypoplasia and Genu Valgum OMIM:187000 Teeth, Odd Shapes of OMIM:187050 Teeth Present at Birth OMIM:187100 Teeth, Supernumerary OMIM:187260 Telangiectasia, Hereditary Benign [informatics.jax.org]

• Carpopedal Spasm

  In addition, monitor for signs of thyrotoxicosis (tachycardia, diaphoresis, increased blood pressure, anxiety) and hypocalcemia (tingling of the fingers and toes, carpopedal spasms, and convulsions). [medical-dictionary.thefreedictionary.com]

• Profound Intellectual Disability

  Severe cases can be life-threatening and involve profound intellectual disability and major physical abnormalities. [gene-decode.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]

• Torsades De Pointes

  De Pointes, Short-Coupled Variant OMIM:602554 Torsion Dystonia with Onset in Infancy OMIM:189600 Torticollis OMIM:314300 Torticollis, Keloids, Cryptorchidism, and Renal Dysplasia; TKCR OMIM:189700 Torus Palatinus and Torus Mandibularis OMIM:106700 Total [informatics.jax.org]

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]

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]

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]

Etiological diagnosis of congenital hypothyroidism. [rb.org.br]

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]

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]

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 able [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]

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]

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]

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]

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]

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]