HYPOTHYROIDIE CONGENITALE PDF

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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Only comments seeking to improve the quality and accuracy of information on the Orphanet website are accepted. For all other comments, please send your remarks via contact us. Only comments written in English can be processed. 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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More specific symptoms often do not develop until several months of age. 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.

Slow linear growth and developmental delay are usually apparent by months of age. Without treatment CH results in severe intellectual deficit and short stature. CH can be divided into permanent with primary, secondary, or peripheral causes or transient forms see these terms. The cause of thyroid dysgenesis remains unknown in the vast majority of cases. Secondary or central CH results from thyroid-stimulating hormone TSH deficiency and is usually associated with congenital hypopituitarism.

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.

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CH may also occur as part of a syndrome, for example in the Pendred and Bamforth-Lazarus syndromes see these terms. Transient CH most commonly occurs in preterm infants born in areas of endemic iodine deficiency. In Western countries, transient hypothyroidism is more likely to be associated with exposure to excess iodine, or with maternal thyroid blocking antibodies.

In countries with newborn screening programs with either a primary thyroxine T4 -follow-up TSH or primary TSH testinfants are diagnosed after detection by screening tests finding an elevated serum TSH level and low T4 or free T4 level.

Yypothyroidie 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.

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

Etiological diagnosis is not necessary when initiating thyroid hormone treatment. Frequent laboratory monitoring in infancy is essential to ensure optimal neurocognitive outcome.

Dosage immunoradiométrique pour le dépistage de l’hypothyroïdie congénitale (TSH-NN) – MSDS

contenitale 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. The prognosis of infants started on treatment early is excellent, with IQs similar to sibling or classmate controls.

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.

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Summary and related texts. Check this box if you wish to receive a copy of your message. Disease definition Congenital hypothyroidism CH is defined as a thyroid hormone deficiency present from birth. NeonatalAntenatal ICD 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 production of their own.

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Etiology 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 contenitale TSH or primary TSH testinfants are diagnosed after detection by screening tests finding an elevated serum TSH level and low T4 or free T4 level.

Orphanet: Hypothyroidie congenitale

Genetic counseling If a familial form of CH is discovered, this will guide genetic counseling. Management and treatment Etiological diagnosis is not necessary when initiating thyroid hormone treatment.

Prognosis The prognosis of infants started on treatment early is excellent, with IQs similar to sibling or classmate controls.

Additional information Further information on this disease Classification s 2 Gene s 31 Clinical signs and symptoms Publications in PubMed Other website s 8. Health care resources for this disease Expert centres Diagnostic tests Patient organisations 35 Orphan drug s 4.

Specialised Social Services Eurordis directory. The documents contained in this web site are presented for information purposes only. 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.