HYPOTHYROIDIE CONGENITALE PDF

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. 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 posterior , macroglossia, a distended abdomen with umbilical hernia, and hypotonia.

Author:Mujin Tojanris
Country:Maldives
Language:English (Spanish)
Genre:Education
Published (Last):26 June 2008
Pages:257
PDF File Size:2.26 Mb
ePub File Size:13.65 Mb
ISBN:514-8-80832-383-9
Downloads:56865
Price:Free* [*Free Regsitration Required]
Uploader:Vokora



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. 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 posterior , macroglossia, 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. 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 test , infants are diagnosed after detection by screening tests finding an elevated serum TSH level and low T4 or free T4 level. 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.

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.

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.

Other search option s Alphabetical list. Suggest an update. Summary and related texts. Related genes. Clinical signs. 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.

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.

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 -follow-up TSH or primary TSH test , infants are diagnosed after detection by screening tests finding an elevated serum TSH level and low T4 or free T4 level.

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 30 Clinical signs and symptoms Publications in PubMed Other website s 8. Health care resources for this disease Expert centres Diagnostic tests Patient organisations 49 Orphan designation s and 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.

ASME B36.10M PDF

HYPOTHYRO√ŹDIE CONGENITALE : A PROPOS DE DEUX OBSERVATIONS AU CHU GABRIEL TOURE DE BAMAKO-MALI.

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. Central or secondary congenital hypothyroidism is a type of permanent congenital hypothyroidism see this term characterized by permanent thyroid hormone deficiency that is present from birth and secondary to a disorder in the thyroid-stimulating hormone TSH - thyrotropin-releasing hormone TRH system. The clinical manifestations are often subtle, probably as a result of trans-placental passage of some maternal thyroid hormone or due to the fact that many infants have some thyroid production of their own. More specific symptoms and signs often do not develop until several months of age. Common clinical features and signs include decreased activity and increased sleep, feeding difficulty and constipation, prolonged jaundice, myxedematous facies, large fontanels especially posterior , macroglossia, a distended abdomen with umbilical hernia, and hypotonia.

AGENTS OF BIOTERRORISM PATHOGENS AND THEIR WEAPONIZATION PDF

Slideshare uses cookies to improve functionality and performance, and to provide you with relevant advertising. If you continue browsing the site, you agree to the use of cookies on this website. See our User Agreement and Privacy Policy. See our Privacy Policy and User Agreement for details. Published on Nov 15,

ASTADALA YOGAMALA PDF

Congenital hypothyroidism is a preventable cause of mental retardation in children. Systematically detected and treated in Western countries, this condition remains neglected in Africa. Five hundred and forty-nine newborns were enrolled in the study and 35 6. Maternal fever and birth asphyxia appeared to influence hyperthyrotropinemia while low birth weight, birth asphyxia and non-cephalic presentations were associated with hypothyroxinemia. Ghezaiel, I. Slim, H. Mayna, A.

Related Articles