sodium-perchlorate and Syndrome

sodium-perchlorate has been researched along with Syndrome* in 4 studies

Reviews

1 review(s) available for sodium-perchlorate and Syndrome

ArticleYear
Pendred's syndrome and genetic defects in thyroid hormone synthesis.
    Reviews in endocrine & metabolic disorders, 2000, Volume: 1, Issue:1-2

    Topics: Carrier Proteins; Deafness; Goiter; Humans; Hypothyroidism; Membrane Transport Proteins; Mutation; Perchlorates; Sodium Compounds; Sulfate Transporters; Syndrome; Thyroid Hormones

2000

Other Studies

3 other study(ies) available for sodium-perchlorate and Syndrome

ArticleYear
Neuro-otological findings in Pendred syndrome.
    International journal of audiology, 2003, Volume: 42, Issue:2

    Pendred syndrome is an autosomal recessive inherited disorder characterized by profound hearing impairment and inappropriate iodine release by the thyroid on perchlorate challenge. Thirty-three cases comprising members of 13 families and eight isolated cases were studied, with detailed audiological and vestibular investigation and computerized tomography. A uniform, profound, symmetrical sensorineural hearing loss was identified in all cases. Approximately one-third of the group reported progressive hearing impairment, in childhood or adolescence, associated with head injury, infection, or delayed secondary hydrops. Ninety per cent of the cases scanned showed dilated vestibular aqueducts, and all cases with progression of the hearing impairment demonstrated this structural abnormality. Approximately one-third of the cases had normal vestibular function, but a further third demonstrated a unilateral peripheral deficit, while the remaining third showed bilateral vestibular hypofunction. There was no intra-familial concordance of vestibular findings, and no correlation between vestibular abnormality and presence or absence of a dilated vestibular aqueduct, with or without a Mondini malformation. In older children and adults, Pendred syndrome was associated with a profound, symmetrical, sensorineural auditory impairment, and a variety of vestibular abnormalities, which are not uniform within families, or correlated with structural labyrinthine deformities.

    Topics: Adolescent; Adult; Audiometry, Pure-Tone; Child; Ear, Inner; Female; Hearing Loss, Sensorineural; Humans; Iodine; Male; Middle Aged; Perchlorates; Reflex, Acoustic; Severity of Illness Index; Sodium Compounds; Syndrome; Thyroid Diseases; Vestibule, Labyrinth

2003
[123I-scintigraphy and perchlorate depletion test in the diagnosis of congenital hypothyroidism].
    Nuklearmedizin. Nuclear medicine, 1998, Volume: 37, Issue:1

    Thirty eight children suffering from congenital primary permanent hypothyroidism were studied to determine the diagnostic impact of 123I scintigraphy in comparison to laboratory findings and ultrasonography.. In all patients 123I scintigraphy was performed after intravenous administration of 3.7 MBq 123I. If accumulation of the radiotracer in thyroid tissue occurred a perchlorate discharge test was performed subsequently.. Scintigraphy revealed athyrosis in 7 children. In 9 children a lingual thyroid was observed. Deficiency in iodine organification was diagnosed by a significant discharge of 123I in 15 patients. In four of these children the diagnosis of Pendred's syndrome could be established. Ectopic thyroid tissue could be demonstrated only by scintigraphy where clinical examination and sonography failed in the diagnosis in all cases. Hypoplasia of the thyroid gland as it was diagnosed in 2 cases by ultrasonography appeared to be unlikely because a normal 123I uptake was seen in these patients. In 2 patients with scintigraphic proven athyrosis an orthotopic gland had been falsely considered by ultrasound. In 44% of our patients the final diagnosis could only be established if 123I scintigraphy and perchlorate discharge test were performed.. This findings suggest that scintigraphy is indispensible in the correct diagnostic work up of congenital hypothyroidism.

    Topics: Child; Child, Preschool; Congenital Hypothyroidism; Diagnosis, Differential; Female; Goiter; Hearing Loss, Sensorineural; Humans; Hypothyroidism; Iodine Radioisotopes; Male; Perchlorates; Radionuclide Imaging; Sodium Compounds; Syndrome; Thyroid Gland; Ultrasonography

1998
[Two families with Pendred's syndrome].
    Harefuah, 1980, Dec-15, Volume: 99, Issue:12

    Topics: Child; Child, Preschool; Deafness; Female; Goiter; Humans; Iodides; Male; Perchlorates; Sodium Compounds; Syndrome

1980