Treatment and prognosis of congenital hypothyroidism
- Stephen LaFranchi, MD
Stephen LaFranchi, MD
- Professor of Pediatrics
- Oregon Health & Sciences University
- Section Editors
- Douglas S Ross, MD
Douglas S Ross, MD
- Section Editor — Thyroid Disease
- Professor of Medicine
- Harvard Medical School
- Mitchell Geffner, MD
Mitchell Geffner, MD
- Section Editor — Pediatric Endocrinology
- Professor of Pediatrics
- Keck School of Medicine, University of Southern California
Congenital hypothyroidism is one of the most common treatable causes of intellectual disability (mental retardation). Screening programs have been established in most developed countries to detect and treat this disorder, which affects approximately 1 in 2000 to 1 in 4000 newborns [1,2]. (See "Clinical features and detection of congenital hypothyroidism".)
Delays in diagnosis and treatment of congenital hypothyroidism will result in impaired neurocognitive outcome (as measured by intelligence quotient [IQ]). Even after diagnosis, IQ and neurologic development may suffer if the infant has hypothyroidism during the first two to three years of life, a time of critical brain dependence on thyroid hormone. Hypothyroidism in such infants may result from inadequate treatment during the first two to three years of life, as might occur with poor adherence to daily administration of medication or lack of appropriate monitoring and thyroid hormone dose adjustments. Thus, appropriate initial therapy and follow-up are essential .
The overall goals of treatment are to assure normal growth and development and psychometric outcome similar to genetic potential, by restoring the serum T4 concentration rapidly to the normal range followed by continued clinical and biochemical euthyroidism.
Oral levothyroxine (L-T4) is the treatment of choice. Although triiodothyronine (T3) is the biologically active hormone, the majority of brain T3 is derived from local deiodination of T4; thus, it is not necessary to use T3. To correct hypothyroxinemia as rapidly as possible, treatment should be initiated in an infant with a clearly positive screening test as soon as confirmatory blood samples have been drawn, pending results. In cases in which screening tests are borderline, a treatment decision can be made after results of the confirmatory tests return . (See "Clinical features and detection of congenital hypothyroidism", section on 'Newborn screening'.)
Dose of L-T4 — Both the timing and dose of thyroid hormone replacement are important [5-7]. The American Academy of Pediatrics (AAP), the European Society for Paediatric Endocrinology (ESPE), and the American Thyroid Association (ATA) recommend a starting L-T4 dose of 10 to 15 mcg/kg/day [4,8,9]. Considering that the lowest dose levothyroxine tablets are 25 or 50 mcg, this usually amounts to 37.5 or 50 mcg/day in full-size term infants . In preterm and other low-birth weight infants, we also recommend using 10 to 15 mcg/kg per day, though in milder cases, often characterized by delayed TSH elevation, a starting dose of 8 to 12 mcg/kg per day is sufficient to normalize thyroid function. (See "Thyroid physiology and screening in preterm infants".)
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- Dose of L-T4
- Effect of soy protein
- Treatment goals
- Recommended follow-up
- Assessment of permanent versus transient hypothyroidism
- Long-term management
- Growth and cardiac function
- Psychometric outcome
- - Effect of low versus high starting L-T4 dose
- - Long-term outcomes
- - Severely affected infants
- - Lower serum T4 values during the first years
- - Effect of noncompliance
- Other neurologic sequelae
- Maternal hypothyroidism
- INFORMATION FOR PATIENTS
- SUMMARY AND RECOMMENDATIONS