Table of ContentsView AllTable of ContentsSigns and SymptomsCausesDiagnosisTreatment
Table of ContentsView All
View All
Table of Contents
Signs and Symptoms
Causes
Diagnosis
Treatment
Congenital hypothyroidism refers to a deficiency or lack of thyroid hormone that is present at birth. Genetic defects or maternal iodine deficiency can result in problems withthyroid gland developmentor with thyroid hormone production, giving rise to the condition. Usually,newborn screening testsidentify congenital hypothyroidism. While babies do not typically have signs or symptoms of hypothyroidism at birth, there may be recognizable clues that parents can look for.
Most newborns with congenital hypothyroidism do not have any signs or symptoms of the condition. This is due to the presence of some maternal thyroid hormone or residual thyroid function.
There are two main forms of congenital hypothyroidism: permanent congenital hypothyroidism and transient congenital hypothyroidism. Congenital hypothyroidism is more common in infants who have congenital heart problems or Down syndrome.
Permanent Congenital Hypothyroidism
This sort of hypothyroidism requires lifelong treatment and has a number of causes:
Transient Congenital Hypothyroidism
It’s thought that 10 to 20 percent of newborns who are hypothyroid have a temporary form of the condition known as transient congenital hypothyroidism. Transient hypothyroidism in newborns has several causes:
Iodine’s Role in Thyroid Health
Newborn screening for thyroid disease includes:Thyroid stimulating hormone (TSH): Normal newborn range is 1.7 to 9.1 mU per L. High levels are suggestive of hypothyroidism.Thyroxine (T4): Normal newborn range is 10 mcg per dL (129 nmol per L). Low levels are indicative of hypothyroidism.
Newborn screening for thyroid disease includes:
If the initial blood screening test identifies a potential problem, follow-up typically includes repeating the tests after about two to three weeks. Imaging tests for visualization of the thyroid gland are typically needed if thyroid blood tests remain abnormal. If there are other problems, such as heart defects or an unusual facial appearance, then additional diagnostic testing, such aselectrocardiogram (EKG)to evaluate the heart or genetic tests, may be necessary.
Newborn Screening for Genetic and Metabolic Disorders
If a newborn is not treated for congenital hypothyroidism, this can negatively impact physical, cognitive, and neurological development. Along with management of the condition through use of medication, close follow-up of developmental milestones is also recommended.
Medication
Generally, thyroid hormone levels are expected to reach normal values within about 10 days after the initiation of treatment.
Treatment will continue for as long as the condition is present.
A Word From Verywell
If you have a child born with congenital hypothyroidism, you can likely expect a good prognosis with normal growth and development if treatment is initiated early. It is also important that you discuss the cause of your child’s congenital hypothyroidism with a pediatrician or genetic specialist. You may need to take precautions with your next pregnancies, such as maintaining an adequate iodine intake, or adjusting medication for your own thyroid condition with the supervision of your healthcare provider.
8 SourcesVerywell Health uses only high-quality sources, including peer-reviewed studies, to support the facts within our articles. Read oureditorial processto learn more about how we fact-check and keep our content accurate, reliable, and trustworthy.Segni M. National Center For Biotechnology Information.Congenital hypothyroidism.Jones D, Hart K, Shapira S, Murray M, Atkinson-dunn R, Rohrwasser A.Identification of primary congenital hypothyroidism based on two newborn screens - Utah, 2010-2016.MMWR Morb Mortal Wkly Rep. 2018;67(28):782-785. doi:10.15585/mmwr.mm6728a4Brigham And Women’s Hospital.Congenital hypothyroidism in children.Peters C, Van trotsenburg A, Schoenmakers N.Diagnosis of endocrine disease: congenital hypothyroidism: update and perspectives.Eur J Endocrinol. 2018;179(6):R297-R317. doi:10.1530/EJE-18-0383Cherella C, Wassner A.Congenital hypothyroidism: insights into pathogenesis and treatment.Int J Pediatr Endocrinol. 2017;2017:11. doi:10.1186/s13633-017-0051-0Kanike N, Davis A, Shekhawat P.Transient hypothyroidism in the newborn: to treat or not to treat.Transl Pediatr. 2017;6(4):349-358. doi:10.21037/tp.2017.09.07Saleh D, Lawrence S, Geraghty M, et al.Prediction of congenital hypothyroidism based on initial screening thyroid-stimulating-hormone.BMC Pediatr. 2016;16:24. doi:10.1186/s12887-016-0559-0Bongers-schokking J, Resing W, Oostdijk W, De rijke Y, De muinck keizer-schrama S.Relation between early over- and undertreatment and behavioural problems in preadolescent children with congenital hypothyroidism.Horm Res Paediatr. 2018;90(4):247-256. doi:10.1159/000494056Additional ReadingCassio A, Monti S, Rizzello A, et al.Comparison between liquid and tablet formulations of levothyroxine in the initial treatment of congenital hypothyroidism. J Pediatr. 2013 Jun;162(6):1264-9, 1269.e1-2. doi: 10.1016/j.jpeds.2012.11.070. Epub 2013 Jan 11.Peroni E, Vigone MC, Mora S, et al.Congenital hypothyroidism treatment in infants: a comparative study between liquid and tablet formulations of levothyroxine. Horm Res Paediatr. 2014;81(1):50-4. doi: 10.1159/000356047. Epub 2013 Nov 12.
8 Sources
Verywell Health uses only high-quality sources, including peer-reviewed studies, to support the facts within our articles. Read oureditorial processto learn more about how we fact-check and keep our content accurate, reliable, and trustworthy.Segni M. National Center For Biotechnology Information.Congenital hypothyroidism.Jones D, Hart K, Shapira S, Murray M, Atkinson-dunn R, Rohrwasser A.Identification of primary congenital hypothyroidism based on two newborn screens - Utah, 2010-2016.MMWR Morb Mortal Wkly Rep. 2018;67(28):782-785. doi:10.15585/mmwr.mm6728a4Brigham And Women’s Hospital.Congenital hypothyroidism in children.Peters C, Van trotsenburg A, Schoenmakers N.Diagnosis of endocrine disease: congenital hypothyroidism: update and perspectives.Eur J Endocrinol. 2018;179(6):R297-R317. doi:10.1530/EJE-18-0383Cherella C, Wassner A.Congenital hypothyroidism: insights into pathogenesis and treatment.Int J Pediatr Endocrinol. 2017;2017:11. doi:10.1186/s13633-017-0051-0Kanike N, Davis A, Shekhawat P.Transient hypothyroidism in the newborn: to treat or not to treat.Transl Pediatr. 2017;6(4):349-358. doi:10.21037/tp.2017.09.07Saleh D, Lawrence S, Geraghty M, et al.Prediction of congenital hypothyroidism based on initial screening thyroid-stimulating-hormone.BMC Pediatr. 2016;16:24. doi:10.1186/s12887-016-0559-0Bongers-schokking J, Resing W, Oostdijk W, De rijke Y, De muinck keizer-schrama S.Relation between early over- and undertreatment and behavioural problems in preadolescent children with congenital hypothyroidism.Horm Res Paediatr. 2018;90(4):247-256. doi:10.1159/000494056Additional ReadingCassio A, Monti S, Rizzello A, et al.Comparison between liquid and tablet formulations of levothyroxine in the initial treatment of congenital hypothyroidism. J Pediatr. 2013 Jun;162(6):1264-9, 1269.e1-2. doi: 10.1016/j.jpeds.2012.11.070. Epub 2013 Jan 11.Peroni E, Vigone MC, Mora S, et al.Congenital hypothyroidism treatment in infants: a comparative study between liquid and tablet formulations of levothyroxine. Horm Res Paediatr. 2014;81(1):50-4. doi: 10.1159/000356047. Epub 2013 Nov 12.
Verywell Health uses only high-quality sources, including peer-reviewed studies, to support the facts within our articles. Read oureditorial processto learn more about how we fact-check and keep our content accurate, reliable, and trustworthy.
Segni M. National Center For Biotechnology Information.Congenital hypothyroidism.Jones D, Hart K, Shapira S, Murray M, Atkinson-dunn R, Rohrwasser A.Identification of primary congenital hypothyroidism based on two newborn screens - Utah, 2010-2016.MMWR Morb Mortal Wkly Rep. 2018;67(28):782-785. doi:10.15585/mmwr.mm6728a4Brigham And Women’s Hospital.Congenital hypothyroidism in children.Peters C, Van trotsenburg A, Schoenmakers N.Diagnosis of endocrine disease: congenital hypothyroidism: update and perspectives.Eur J Endocrinol. 2018;179(6):R297-R317. doi:10.1530/EJE-18-0383Cherella C, Wassner A.Congenital hypothyroidism: insights into pathogenesis and treatment.Int J Pediatr Endocrinol. 2017;2017:11. doi:10.1186/s13633-017-0051-0Kanike N, Davis A, Shekhawat P.Transient hypothyroidism in the newborn: to treat or not to treat.Transl Pediatr. 2017;6(4):349-358. doi:10.21037/tp.2017.09.07Saleh D, Lawrence S, Geraghty M, et al.Prediction of congenital hypothyroidism based on initial screening thyroid-stimulating-hormone.BMC Pediatr. 2016;16:24. doi:10.1186/s12887-016-0559-0Bongers-schokking J, Resing W, Oostdijk W, De rijke Y, De muinck keizer-schrama S.Relation between early over- and undertreatment and behavioural problems in preadolescent children with congenital hypothyroidism.Horm Res Paediatr. 2018;90(4):247-256. doi:10.1159/000494056
Segni M. National Center For Biotechnology Information.Congenital hypothyroidism.
Jones D, Hart K, Shapira S, Murray M, Atkinson-dunn R, Rohrwasser A.Identification of primary congenital hypothyroidism based on two newborn screens - Utah, 2010-2016.MMWR Morb Mortal Wkly Rep. 2018;67(28):782-785. doi:10.15585/mmwr.mm6728a4
Brigham And Women’s Hospital.Congenital hypothyroidism in children.
Peters C, Van trotsenburg A, Schoenmakers N.Diagnosis of endocrine disease: congenital hypothyroidism: update and perspectives.Eur J Endocrinol. 2018;179(6):R297-R317. doi:10.1530/EJE-18-0383
Cherella C, Wassner A.Congenital hypothyroidism: insights into pathogenesis and treatment.Int J Pediatr Endocrinol. 2017;2017:11. doi:10.1186/s13633-017-0051-0
Kanike N, Davis A, Shekhawat P.Transient hypothyroidism in the newborn: to treat or not to treat.Transl Pediatr. 2017;6(4):349-358. doi:10.21037/tp.2017.09.07
Saleh D, Lawrence S, Geraghty M, et al.Prediction of congenital hypothyroidism based on initial screening thyroid-stimulating-hormone.BMC Pediatr. 2016;16:24. doi:10.1186/s12887-016-0559-0
Bongers-schokking J, Resing W, Oostdijk W, De rijke Y, De muinck keizer-schrama S.Relation between early over- and undertreatment and behavioural problems in preadolescent children with congenital hypothyroidism.Horm Res Paediatr. 2018;90(4):247-256. doi:10.1159/000494056
Cassio A, Monti S, Rizzello A, et al.Comparison between liquid and tablet formulations of levothyroxine in the initial treatment of congenital hypothyroidism. J Pediatr. 2013 Jun;162(6):1264-9, 1269.e1-2. doi: 10.1016/j.jpeds.2012.11.070. Epub 2013 Jan 11.Peroni E, Vigone MC, Mora S, et al.Congenital hypothyroidism treatment in infants: a comparative study between liquid and tablet formulations of levothyroxine. Horm Res Paediatr. 2014;81(1):50-4. doi: 10.1159/000356047. Epub 2013 Nov 12.
Cassio A, Monti S, Rizzello A, et al.Comparison between liquid and tablet formulations of levothyroxine in the initial treatment of congenital hypothyroidism. J Pediatr. 2013 Jun;162(6):1264-9, 1269.e1-2. doi: 10.1016/j.jpeds.2012.11.070. Epub 2013 Jan 11.
Peroni E, Vigone MC, Mora S, et al.Congenital hypothyroidism treatment in infants: a comparative study between liquid and tablet formulations of levothyroxine. Horm Res Paediatr. 2014;81(1):50-4. doi: 10.1159/000356047. Epub 2013 Nov 12.
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