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Disease Information for Pendred syndrome

Clinical Manifestations
Signs & Symptoms: Enlarged thyroid gland; Enlarged Thyroid Gland in Children; Goiter/thyroid enlargement/mass; Thyroid Mass; Thyromegaly/Symmetric enlargement
: Speech Locution Problems
: Acute Hearing Loss; Hearing loss
Disease Progression: Course/Chronic disorder; Course/Chronic only
Demographics & Risk Factors
Population Group: Child; Population/Pediatrics population
Family History: Family history/Goiter
Sex & Age Groups: Population/Child; Population/Child-Infant Only; Population/Children/all
Laboratory Tests
Abnormal Lab Findings - Decreased: Tri-iodothyronine/T3 as Resin Uptake (Lab)
Abnormal Lab Findings - Increased: TSH/Thyroid stimulating hormone (Lab)
Diagnostic Test Results
Other Tests & Procedures: TEST/Audiometrics/abnormal; TEST/Audiometrics/High-tone hearing loss
Pathology: PATH/Thyroid/Colloid lakes/acini/Nodular hyperplasia
: PATH/Labyrinth/Organ of Corti degeneration; PATH/Spiral ganglion/atrophy/Labyrinth
Isotope Scan: Isotope/Thyroid Scan/Perchlorate flushing positive
Associated Diseases & Rule outs
Associated Disease & Complications: Cretinism/congenital hypothyroidism; Deafness; Deafness, congenital; Deafness, sensorineural; Hypothyroidism (myxedema); Multinodular adenomatous goiter/benign; Neonatal goiter; Pendred syndrome
: Hereditary Deafness/Sensorineural
Disease Mechanism & Classification
Class: CLASS/Endocrine gland (category); CLASS/Thyroid gland disorder (ex)
: CLASS/Ears/accessory (category)
Pathophysiology: Pathophysiology/Gene locus 7q31; Pathophysiology/Gene locus Chromosome 7; Pathophysiology/Gene Locus Identified/OMIM database; Pathophysiology/Genomic indentifiers (polymorphism/snip/mutations)
: Pathophysiology/Defective thyroid hormone biosynthesis; Pathophysiology/Enzyme defect/thyroid metabolism; Pathophysiology/Inhib organification/iodine/thyroxin prod; Pathophysiology/Tyrosine iodination/Thyroid failure
: Pathophysiology/Gene locus Chromosome 7q
: Pathophysiology/Hereditary deafness
Process: PROCESS/Autosomal recessive disorder (ex); PROCESS/Congenital/developmental (category); PROCESS/Eponymic (category); PROCESS/Hereditofamilial (category); PROCESS/INCIDENCE/Esoteric disease (example); PROCESS/Metabolic/storage disorder (category)
: PROCESS/Anomalies/Deformities/Malformations (EX)
Synonyms
Synonym: Pendred syndrome, Synonym/Goiter-deafness syndrome
Definition: Be the first to add a definition for Pendred syndrome
External Links Related to Pendred syndrome: Google; Wikipedia; Merck; Images; PubMed (National Library of Medicine); NGC (National Guideline Clearinghouse); Medscape (eMedicine); Harrison's Online (accessmedicine); NEJM (The New England Journal of Medicine)

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