Congenital Hypothyroidism (Cretinism)

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935 relevant articles (16 outcomes, 81 trials/studies) found for this Disease

Description: A condition in infancy or early childhood due to an in-utero deficiency of THYROID HORMONES that can be caused by genetic or environmental factors, such as thyroid dysgenesis or HYPOTHYROIDISM in infants of mothers treated with THIOURACIL during pregnancy. Endemic cretinism is the result of iodine deficiency. Clinical symptoms include severe MENTAL RETARDATION, impaired skeletal development, short stature, and MYXEDEMA.

Also Known As:

Cretinism; Myxedema, Congenital; Endemic Cretinism; Cretinism, Endemic; Hypothyroidism, Congenital

Relationship Network

Disease Context: Research Results

Musculoskeletal Diseases: 87

Bone Diseases: 2533

Developmental Bone Diseases: 61

Dwarfism: 704

Congenital Hypothyroidism: 935

Endocrine Bone Diseases: 3

Congenital Hypothyroidism: 935

Congenital, Hereditary, and Neonatal Diseases and Abnormalities: 449

Inborn Genetic Diseases: 578

Dwarfism: 704

Congenital Hypothyroidism: 935

Endocrine System Diseases: 398

Thyroid Diseases: 3109

Hypothyroidism: 8111

Congenital Hypothyroidism: 935

Dwarfism: 704

Congenital Hypothyroidism: 935

Related Diseases

1.	Hypothyroidism
2.	Goiter
3.	Mental Retardation (Idiocy)
4.	Phenylketonurias (Phenylketonuria)
5.	Rubella (German Measles)

Experts

1.	Refetoff, Samuel: 4 articles (02/2008 - 10/2003)
2.	de Vijlder, Jan J M: 4 articles (03/2007 - 07/2002)
3.	Vulsma, Thomas: 4 articles (03/2007 - 07/2002)
4.	Heyerdahl, Sonja: 4 articles (02/2007 - 10/2003)
5.	Salerno, Mariacarolina: 3 articles (07/2008 - 01/2002)
6.	Capalbo, Donatella: 3 articles (07/2008 - 01/2002)
7.	Persani, Luca: 3 articles (02/2008 - 08/2003)
8.	Fugazzola, Laura: 3 articles (02/2008 - 08/2003)
9.	Weber, Giovanna: 3 articles (02/2008 - 08/2003)
10.	Zhao, Zheng-yan: 3 articles (07/2007 - 03/2005)

Drugs and Biologics

Drugs and Important Biological Agents (IBA) related to Congenital Hypothyroidism:

1.	Thyroxine (Levothyroxine)FDA LinkGeneric 08/01/1996 - "The introduction of screening for congenital hypothyroidism has led to a marked improvement in neurodevelopmental outcome that has largely been attributed to the introduction of early treatment in the form of thyroxine. " 06/01/1997 - "CONCLUSION: When initiating soy-formula feeding in infants with congenital hypothyroidism, the L-thyroxine dose should be increased because of significant reduction in intestinal absorption: conversely, when soy feeding is discontinued, the L-thyroxine dose should be decreased." 03/01/1995 - "CONCLUSION: A higher starting dose of L-thyroxine is beneficial for subsequent intellectual outcome in children with congenital hypothyroidism but may be associated with internalizing behavior problems." 08/01/1990 - "We conclude that the prompt restoration of clinical and biochemical euthyroidism during early infancy with doses of L-thyroxine between 10 and 14 micrograms/kg/day is a safe and effective method of therapy for children with congenital hypothyroidism." 02/01/2009 - "The aim of this study was to examine the role of congenital hypothyroidism and levothyroxine (L-thyroxine) treatment on renal growth. " Order ALL the reference details at left...
2.	IodineIBA 02/01/1993 - "The evidence is also strong that iodine supplementation is effective in preventing both varieties of endemic cretinism, provided it is given before conception; early fetal and infant death may also be prevented. " 11/01/1994 - "In order to study the changes of intelligence development in children probably induced by stable supply with iodine, the tested children living in the areas with endemic cretinism were followed-up for two years, and no improvement in children's intelligence could been seen. " 12/01/2008 - "The evidence arises from three sets of observations: first, severely premature infants with transient hypothyroxinemia have elevated risks of CP; second, some children born with endemic cretinism in iodine-deficient areas of the world have motor findings compatible with the diagnosis of CP; and third, several studies of the antecedents of CP have encountered a higher than expected prevalence of maternal thyroidal disorders. " 12/01/2008 - "CONCLUSIONS: This study describes a functional mutation within IYD, demonstrating the molecular basis of the iodine wasting form of congenital hypothyroidism. " 06/01/2008 - "The aim of the present study was to investigate the incidence of iodine deficiency in patients with congenital hypothyroidism. " Order ALL the reference details at left...
3.	HormonesIBA 05/01/1975 - "From these data we conclude that the frequency of congenital hypothyroidism is about one in 7,000 births and that our method is effective in detecting thyroid hormone abnormalities with an acceptable percentage of false positive measurements; no false negative results have occurred to our knowledge." 01/01/2009 - "SELECTION CRITERIA: Randomised controlled clinical trials investigating the effects of high versus low dose of initial thyroid hormone replacement for congenital hypothyroidism were included. " 01/01/2003 - "To evaluate the effect of a prolonged thyroid hormone defect, especially in the pubertal period, a woman with untreated congenital hypothyroidism underwent studies of thyroid function and bone maturation for the first time at age 38 years 10 months and received thyroid hormone replacement. " 01/01/2000 - "To study the effects of LT4 dose on thyroid hormone serum levels, a prospective, longitudinal and comparative study was designed, including 56 term eutrophic 1-89 day-old infants with congenital hypothyroidism (CH) detected by neonatal screening. " 01/01/1996 - "Furthermore it is the first feasible step to study the etiology and epidemiology of the so far only putative defects of thyroid hormone biosynthesis leading to congenital hypothyroidism." Order ALL the reference details at left...
4.	Iodized Oil (Lipiodol)IBA 01/01/1997 - "Iodized oil administration has not been effective in restoration of euthyroidism in adolescents and adults, and only partially effective in children aged 4 to 14 years with endemic myxedematous cretinism. " 09/25/1986 - "To study this question we conducted a five-month follow-up of 51 patients with cretinism (age 14 and below), who were randomly assigned to treatment (0.5 ml of intramuscular iodized oil) and control groups. " 02/01/2000 - "Cretinism could not be prevented unless the iodized oil was given before pregnancy. " 06/01/1994 - "In the Simbai villages surveyed, there were nine individuals diagnosed as suffering from cretinism, three of whom were thought to have been born after the last iodized oil patrol in the area. " 02/01/1990 - "Iodized oil in this age group of patients with endemic cretinism does not appear to be beneficial and should be used with caution." Order ALL the reference details at left...
5.	Methimazole (Thiamazole)FDA LinkGeneric 12/03/2006 - "Congenital hypothyroidism was induced by adding 0.02% methimazole in the drinking water from day 9 of gestation and continually until 18 days of age. " 01/01/1990 - "injection of methimazole (20-30 mg/kg) to their pups from birth to postnatal day 30 provoked hormonal and somatic alterations resembling (with all caution to any association between rodent and human data) those of congenital hypothyroidism. " 03/01/1989 - "Congenital hypothyroidism was induced in rat pups by treating pregnant and lactating dams with an antithyroid drug, methimazole. " 09/01/1990 - "To study the protective effects of maternal thyroxine (T4) and 3,5,3'-triiodothyronine (T3) in congenital hypothyroidism, we gave pregnant rats methimazole (MMI), an antithyroid drug that crosses the placenta, and infused them with three different doses of T4 or T3. " 11/01/1991 - "The effects of thyroid hormone on insulin-like growth factor (IGF) and IGF-binding protein (IGFBP) expression in the neonatal rat: prolonged high expression of IGFBP-2 in methimazole-induced congenital hypothyroidism." Order ALL the reference details at left...
6.	thiocyanateIBA 01/01/1972 - "Possible role of cyanide and thiocyanate in the etiology of endemic cretinism." 04/01/1988 - "When comparing the data collected in six different villages of the area, significant negative correlations were found between the decrease in urinary iodide and iodide/thiocyanate ratio (I/SCN) and the increase in prevalences of visible goitres, endemic cretinism and transient neonatal hypothyroidism. " 10/01/2002 - "Thiocyanate in food and iodine in milk: from domestic animal feeding to improved understanding of cretinism." 01/01/2006 - "Thiocyanate overload has been clearly documented as a goitrogen in Central Africa, and when associated with selenium deficiency, it may be included as risk factor for endemic myxedematous cretinism. " 01/01/1990 - "[Excess of thiocyanate and selenium deficiency: cofactors in the etiology of endemic goiter and cretinism in North Zaire]" Order ALL the reference details at left...
7.	Folic Acid (Vitamin M)FDA LinkGeneric 04/01/2004 - "Special mention deserves nation wide programs held by the ministry of Health such as mandatory rubella vaccination, flour folic acid fortification and metabolic screening of phenylketonuria and congenital hypothyroidism. " 01/16/2003 - "DEVELOPMENT: In spite of the fact that in the majority of cases of mental retardation the etiology is unknown, and for that reason, in them it is not possible to establish preventive strategies, within the last three decades, important research advances have helped to prevent thousands of cases of mental retardation of illnesses caused by Haemophilus influenzae B, measles encephalitis, Rh disease and severe jaundice in newborn infants, congenital hypothyroidism, phenylketonuria and congenital rubella; as well as removing lead from the environment, intervention programs for the proper use of seat belts, child safety seats, and motorcycle and bicycle helmets; early and adequate prenatal care, dietary supplementation with folic acid beginning before conception to reduce the risk of neural tube defects, avoidance of toxic substances during pregnancy like alcohol, and the use of newborn screening tests. " 02/01/1994 - "When supplemented before conception, iodine prevents cretinism and folic acid reduces neural tube defect risks. " Order ALL the reference details at left...
8.	Immunoglobulin M (IgM)IBA 07/01/2005 - "Undetectable serum IgA and low IgM concentration in children with congenital hypothyroidism." 07/01/2005 - "IgA and IgM deficiency is correlated with the severity of congenital hypothyroidism and may help to evaluate the duration and severity of thyroid hormone deficiency during prenatal life." 07/01/2005 - "In order to evaluate the effect of thyroid hormone deficiency on antibody production, we evaluated serum IgA and IgM concentrations in 83 children with congenital hypothyroidism (CH), diagnosed by neonatal screening. " Order ALL the reference details at left...
9.	Immunoglobulin A (IgA)IBA 07/01/2005 - "Undetectable serum IgA and low IgM concentration in children with congenital hypothyroidism." 07/01/2005 - "IgA and IgM deficiency is correlated with the severity of congenital hypothyroidism and may help to evaluate the duration and severity of thyroid hormone deficiency during prenatal life." 07/01/2005 - "In order to evaluate the effect of thyroid hormone deficiency on antibody production, we evaluated serum IgA and IgM concentrations in 83 children with congenital hypothyroidism (CH), diagnosed by neonatal screening. " Order ALL the reference details at left...
10.	Thyrotropin (Thyroid-Stimulating Hormone)FDA Link 09/01/1988 - "A multicentre study for the detection of congenital hypothyroidism by enzyme-immunoassay of thyrotropin in filter paper blood spots is described. " 08/01/2009 - "To prevent the severe developmental and physical morbidities associated with congenital hypothyroidism, we developed a home-made Enzyme-Linked Immunosorbent Assay (ELISA) method to quantify Thyroid Stimulating Hormone (TSH) levels on newborn dried blood spots. " 07/01/2008 - "Repeat testing for congenital hypothyroidism in preterm infants is unnecessary with an appropriate thyroid stimulating hormone threshold." 03/01/2008 - "Persistently raised thyroid stimulating hormone in adequately treated congenital hypothyroidism on long-term follow-up." 02/01/2008 - "An appraisal of a 17-year primary thyroid stimulating hormone (TSH) screening programme for the detection of congenital hypothyroidism was carried out to establish the reference interval of cord blood TSH in unaffected infants; the mean cord blood TSH concentration of affected infants and the incidence of congenital hypothyroidism in the Najran province of Saudi Arabia. " Order ALL the reference details at left...

Therapies and Procedures

1.	Seat Belts (Seat Belt) 01/16/2003 - "DEVELOPMENT: In spite of the fact that in the majority of cases of mental retardation the etiology is unknown, and for that reason, in them it is not possible to establish preventive strategies, within the last three decades, important research advances have helped to prevent thousands of cases of mental retardation of illnesses caused by Haemophilus influenzae B, measles encephalitis, Rh disease and severe jaundice in newborn infants, congenital hypothyroidism, phenylketonuria and congenital rubella; as well as removing lead from the environment, intervention programs for the proper use of seat belts, child safety seats, and motorcycle and bicycle helmets; early and adequate prenatal care, dietary supplementation with folic acid beginning before conception to reduce the risk of neural tube defects, avoidance of toxic substances during pregnancy like alcohol, and the use of newborn screening tests. " Order ALL the reference details at left...
2.	Prenatal Care 01/16/2003 - "DEVELOPMENT: In spite of the fact that in the majority of cases of mental retardation the etiology is unknown, and for that reason, in them it is not possible to establish preventive strategies, within the last three decades, important research advances have helped to prevent thousands of cases of mental retardation of illnesses caused by Haemophilus influenzae B, measles encephalitis, Rh disease and severe jaundice in newborn infants, congenital hypothyroidism, phenylketonuria and congenital rubella; as well as removing lead from the environment, intervention programs for the proper use of seat belts, child safety seats, and motorcycle and bicycle helmets; early and adequate prenatal care, dietary supplementation with folic acid beginning before conception to reduce the risk of neural tube defects, avoidance of toxic substances during pregnancy like alcohol, and the use of newborn screening tests. " Order ALL the reference details at left...
3.	Thyroidectomy 04/01/1980 - "Midgestation ovine fetal thyroidectomy resulted in profound congenital hypothyroidism and severe respiratory distress at term. " 01/01/1976 - "These findings suggest that in utero transplantation of thyroid tissue is technically feasible and that the previously described development of in utero cretinism following fetal thyroidectomy can be prevented by a functioning autograft. " 02/13/1970 - "Exposure to tricyanoaminopropene before and after birth, at doses sufficient to produce anatomical cretinism, apparently induces an enduring behavioral deficit which is similar to that of neonatal thyroidectomy-induced cretinism in rats and which parallels the mental retardation associated with human cretinism." 05/01/1988 - "An appropriate model for congenital hypothyroidism in the rat induced by neonatal treatment with propylthiouracil and surgical thyroidectomy: studies on learning ability and biochemical parameters." 01/01/1993 - "We found a marked CT deficiency after thyroidectomy, radioactive iodine treatment and in patients with congenital hypothyroidism or autoimmune primary hypothyroidism. " Order ALL the reference details at left...
4.	Aftercare (After-Treatment) 08/01/1989 - "To evaluate the effect of congenital hypothyroidism (CH) on nervous system development, we performed evoked potential studies on 7 CH infants at 3-8 weeks of age before treatment and at four months or more after treatment began. " 07/01/1984 - "At 10-13 months of age, after treatment withdrawal, the 2 infants from area A had permanent congenital hypothyroidism due to thyroid agenesis whereas the 2 infants from area C were euthyroid (transient congenital hypothyroidism). " 11/01/1988 - "Serum thyroxine and thyroid stimulating hormone concentrations after treatment of congenital hypothyroidism." Order ALL the reference details at left...
5.	Gamma Cameras (Gamma Camera) 01/01/1985 - "Quantitative studies of 123I-iodide uptake using a gamma camera were undertaken in 23 infants with congenital hypothyroidism. " 09/01/1991 - "Thyroid scintigraphy was performed in 69 consecutive infants with permanent primary congenital hypothyroidism (CH) detected by systematic neonatal thyroid screening using a rectilinear scanner or a gamma camera 15 minutes after the intravenous injection of 250 microCi Tc-99m sodium pertechnetate, immediately after the infants were fed. " Order ALL the reference details at left...

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