Dosage immunoradiométrique pour le dépistage de l’hypothyroïdie congénitale ( TSH-NN) – MSDS. Produits associés: Dosage immunoradiométrique pour le. totaal T4 en een verhoogd serum TSH werd congenitale primaire hypothyroïdie gediagnosticeerd. Het scintigrafisch onderzoek bevestigde deze diagnose. la migration thyroïdienne est complétée à la 7ème semaine. • capte l’iode dès la 11ème semaine (Szinnai et al.;. JCEM, ). • hypothyroïdie congénitale.

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Lower neurocognitive outcomes may occur in those infants started after more than 30 days of age, on lower l-thyroxine doses than currently recommended, and in those infants with more severe hypothyroidism.

Genetic counseling If a familial form of CH is discovered, this will guide genetic counseling.

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If you want to subscribe to this journal, see our rates You can purchase this item in Pay Per View: The clinical manifestations are often subtle or not present at birth, probably as a result of trans-placental passage of some maternal thyroid hormone and the fact that many infants have some thyroid production of their own.

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Transient CH most commonly occurs in preterm infants born in areas of endemic iodine deficiency. The prognosis of infants started on treatment early is excellent, with IQs similar to sibling or classmate controls. Scintigraphic imaging of congenital hypothyroidism: Serum TSH and T4 or free T4 should be measured every months in the first 6 months of life, every 3 months between 6 months and 3 years of age, and 4 weeks after any dose change.

Incidence of congenital hypothyroidism CH is about one in newborn and CH is the main cause of avoidable mental retardation and abnormality of growth.


Report on cases of infants. Slow linear growth and developmental delay are usually apparent by months of age. Thyroid scintigraphy in association with ultrasound permits a precise characterization of the etiology of CH. Access to the PDF text.

Journal page Archives Contents list. Other diagnostic tests thyroid radionuclide uptake and scan, thyroid sonography, or serum thyroglobulin determination may help pinpoint the underlying etiology and separate transient from permanent cases.

Other search option s Alphabetical list. Additional information Further information on this disease Classification s 2 Gene s 31 Clinical signs and symptoms Publications in PubMed Other website s 8.

The material is in no way intended to replace professional medical care by a qualified specialist and should not be used as a basis for diagnosis or treatment. Disease definition Congenital hypothyroidism CH is defined as a thyroid hormone deficiency present from birth. Hindie cA. It may be permanent or transient.

Congenital hypothyroidism, Thyroid hypohtyroidie, Perchlorate discharge test, Ectopia, Athyreosis, Dyshormonogenesis. Prognosis The prognosis of infants started on treatment early is excellent, with IQs similar to sibling or classmate controls.

Orphanet: Hypothyroidie congenitale

Top of the page – Article Outline. CH can be divided into permanent with primary, secondary, or peripheral causes or transient forms see these terms. Diagnostic methods In countries with newborn screening programs with either a primary thyroxine T4 -follow-up TSH or primary TSH jypothyroidieinfants are diagnosed after detection by screening tests finding an elevated serum TSH level and low T4 or free T4 level.

Only comments seeking to improve the quality and accuracy of information on the Orphanet website are accepted. Specialised Social Services Eurordis directory. Clinical description The clinical manifestations are often subtle or not present at birth, probably as a result of trans-placental passage of some maternal thyroid hormone and the fact that many infants have some thyroid congeintale of their own. More specific symptoms often do not develop until several months of age. The owners of this website hereby guarantee to respect the legal confidentiality conditions, applicable in France, and not to disclose this data to third parties.


Common clinical features include decreased activity and increased sleep, feeding difficulty and constipation, prolonged jaundice, myxedematous facies, large fontanels especially posteriormacroglossia, a distended abdomen with umbilical hernia, and hypotonia.

When the thyroid was normally located, a perchlorate discharge test was performed. Only comments written in English can be processed. We retrospectively reviewed all the children 0—3 months referred between January and December to the pediatric hospitals in Paris for the management of neonatal hypothyroidism.

Mouzoune bC. You can move this window by clicking on the headline. Secondary or central CH results from thyroid-stimulating hormone TSH deficiency and is usually associated with congenital hypopituitarism. Check this box if you wish to receive a copy of your message. A significant association was observed between TSH levels and etiology of HC, and between TSH levels and the percentage of iodine uptake decrease after the perchlorate discharge test: During the study period, infants had thyroid scintigraphy for CH.

Peripheral CH results from defects in thyroid hormone transport, metabolism, or action as in Allan-Herndon-Dudley syndrome or as a result of peripheral resistance to thyroid hormones see these terms.

Personal information regarding our website’s visitors, including their identity, is confidential. If you are a hypothyrkidie, please sign in ‘My Account’ at the top right of the screen. Thyroid hypothhroidie allows in most of cases to specify the type of CH. Access to the full text of this article requires a subscription.

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