Approach Considerations

The goal of treatment in congenital hypothyroidism is to correct hypothyroidism and ensure normal growth and neuropsychological development. The mainstay in the treatment of congenital hypothyroidism is early diagnosis and thyroid hormone replacement. Optimal care includes diagnosis before age 10-13 days and normalization of thyroid hormone blood levels by age 3 weeks.^{[17, 18, 65]}

Medical Care

Only levothyroxine is recommended for treatment.^[19] It has been established as safe, effective, inexpensive, easily administered, and easily monitored.

Some authors suggest that generic forms may be just as effective as branded medications,^[66] but others diasagree.^[67] The American Thyroid Association guidelines note that switches between levothyroxine products could potentially result in variations in the administered dose; Prescription of brand name levothyroxine, or alternatively maintenance of the same generic preparation (ie, maintenance of an identifiable formulation of levothyroxine), is advised. Because use of different levothyroxine products may sometimes be associated with altered serum TSH values, a change in an identifiable formulation of levothyroxine (brand name or generic) should be followed by re-evaluation of serum TSH at steady state.^[68]

Optimum dosage regimens and follow-up laboratory monitoring have not yet been determined.^{[69, 70, 71]} Initial dosages of 10-15 mcg/kg/day, equivalent to a starting dose of 50 mcg in many newborns, have been recommended.^{[57, 68]} However, in up to 43% of infants and 10% of older children with congenital hypothyroidism, TSH elevation fails to normalize despite appropriate LT4 treatment.^[72]

Consultations

The treatment of hypothyroidism is straightforward. However, because of the potential for serious morbidity with inadequate treatment or overtreatment, primary physicians should consult a pediatric endocrinologist. Appropriate psychological, developmental, and educational evaluations should also be considered.^[72]

Diet

Dietary iodide supplementation in iodine-deficient areas can prevent endemic cretinism but does not have a major effect on sporadic congenital hypothyroidism. Dietary iodine deficiency is the most common preventable cause of brain damage worldwide.^[73]

Soy-based formulas may decrease the absorption of levothyroxine.^[74]This is not a contraindication to their use, even in infants with congenital hypothyroidism. Switching an infant from a milk-based formula to a soy-based formula may increase the dose of thyroid hormone needed to maintain a euthyroid status.^[75]

Prevention

Dietary iodide supplementation can prevent endemic goiter and cretinism, but not sporadic congenital hypothyroidism. Iodization of salt is the usual method, but cooking oil, flour, and drinking water have also been iodinated for this purpose. Long-acting intramuscular injections of iodized oil (Lipiodol) have been used in some areas, and oral lipiodol^{[76, 77]} can also be effective.

Properly administered newborn screening programs have made diagnosis of infants with congenital hypothyroidism possible within the first 3 weeks of life. With early and adequate treatment, the sequelae can be eliminated in most and minimized in the rest.

Methods of prenatal diagnosis and treatment are being evaluated.

Long-Term Monitoring

Children with congenital hypothyroidism should be monitored clinically and biochemically. Clinical parameters should include linear growth, weight gain, developmental progression, and overall well-being.

Laboratory measurements of T4 (total or free T4) and TSH should be repeated 4-6 weeks after initiation of therapy, then every 1-3 months during the first year of life and every 2-4 months during the second and third years. In children aged 3 years and older, the time interval between measurements may be increased, depending on the reliability of the patient's caretakers. As dosage changes are made, testing should be more frequent.

Formal developmental and psychoneurological evaluations should be considered in all infants with congenital hypothyroidism. Such evaluations are especially important in children whose treatment was delayed or inadequate. As mentioned above, infants diagnosed early who have detectable signs of hypothyroidism at the time of diagnosis are also at increased risk of developmental problems. As with any child, school progression should be monitored and parents encouraged to seek early evaluations and interventions as soon as problems are recognized.^[78]

Unless an anatomic defect of the thyroid was found at diagnosis, reevaluation after withdrawing treatment should be considered at about age 3 years.^[79] If the child remains hypothyroid at age 3 years, thyroid hormone replacement and medical monitoring are usually required for life.

Guidelines

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Media Gallery

An infant with cretinism. Note the hypotonic posture, coarse facial features, and umbilical hernia.
Note the macroglossia.
An infant shown a few months after starting thyroid hormone replacement.
Infant a few months after starting thyroid hormone replacement.

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Author

Maala S Daniel, MBBS Attending Physician, Division of Pediatric Endocrinology, Helen DeVos Children's Hospital

Maala S Daniel, MBBS is a member of the following medical societies: American Academy of Pediatrics, American Medical Student Association/Foundation, Endocrine Society

Disclosure: Nothing to disclose.

Coauthor(s)

Daniel C Postellon, MD † Associate Professor or Pediatrics and Human Development, Michigan State University College of Human Medicine; Consulting Staff, Pediatric Endocrine Clinic, Helen DeVos Children's Hospital

Daniel C Postellon, MD is a member of the following medical societies: American Academy of Pediatrics, Endocrine Society, Pediatric Endocrine Society, American Diabetes Association

Disclosure: Nothing to disclose.

Specialty Editor Board

Mary L Windle, PharmD Adjunct Associate Professor, University of Nebraska Medical Center College of Pharmacy; Editor-in-Chief, Medscape Drug Reference

Disclosure: Nothing to disclose.

Barry B Bercu, MD Professor, Departments of Pediatrics, Molecular Pharmacology and Physiology, University of South Florida College of Medicine, All Children's Hospital

Barry B Bercu, MD is a member of the following medical societies: American Academy of Pediatrics, American Association of Clinical Endocrinologists, American Medical Association, American Pediatric Society, Association of Clinical Scientists, Endocrine Society, Florida Medical Association, Pediatric Endocrine Society, Society for Pediatric Research, Southern Society for Pediatric Research, Society for the Study of Reproduction, American Federation for Clinical Research, Pituitary Society

Disclosure: Nothing to disclose.

Chief Editor

Sasigarn A Bowden, MD, FAAP Professor of Pediatrics, Section of Pediatric Endocrinology, Metabolism and Diabetes, Department of Pediatrics, Ohio State University College of Medicine; Pediatric Endocrinologist, Division of Endocrinology, Nationwide Children’s Hospital; Affiliate Faculty/Principal Investigator, Center for Clinical Translational Research, Research Institute at Nationwide Children’s Hospital

Sasigarn A Bowden, MD, FAAP is a member of the following medical societies: American Society for Bone and Mineral Research, Central Ohio Pediatric Society, Endocrine Society, International Society for Pediatric and Adolescent Diabetes, Pediatric Endocrine Society, Society for Pediatric Research

Disclosure: Nothing to disclose.

Additional Contributors

Arlan L Rosenbloom, MD Adjunct Distinguished Service Professor Emeritus of Pediatrics, University of Florida College of Medicine; Fellow of the American Academy of Pediatrics; Fellow of the American College of Epidemiology

Arlan L Rosenbloom, MD is a member of the following medical societies: American Academy of Pediatrics, American College of Epidemiology, American Pediatric Society, Endocrine Society, Pediatric Endocrine Society, Society for Pediatric Research, Florida Chapter of The American Academy of Pediatrics, Florida Pediatric Society, International Society for Pediatric and Adolescent Diabetes

Disclosure: Nothing to disclose.