Congenital Thyroid Hormone Deficiency (Congenital Hypothyroidism)
Congenital Hypothyroidism is the most common endocrinological problem in the neonatal period. It causes irreversible mental retardation and developmental disorders in proportion to the delay in diagnosis and treatment. Newborn screenings are very important in terms of diagnosis and treatment, and newborn screening was started in our country in December 2006 to detect congenital hypothyroidism. Interpretation of screening results is important.
Congenital hypothyroidism (CH) is a disease that was identified centuries ago. The association of absence of thyroid tissue and mental retardation was first described by Paracelsus in 1527. The most common cause of permanent thyroid hormone deficiency is congenital causes. It is also the most common endocrinological problem in the neonatal period. CH is the most common preventable cause of mental retardation.
Although the prevalence varies according to race and ethnicity, it is seen in 1 in 3500-4000 live births worldwide. However, its frequency is higher in our country.
Scanning should be done between 48 hours and 4 days. False positive results will occur in scans performed before 48 hours. False negative results may be obtained after blood product collection and in sick babies. It is stated that babies born at home, who are seriously ill or premature may wait until the 7th day for screening. False positivity may occur in the screening test and parents become worried. However, when we look at blood thyroid function tests in positive cases, normal measurements are obtained in most cases. There should be no alarm right away. However, it must be checked by a physician and blood measurements.
Although thyroid hormones are critical for the development of many organ systems, especially the brain, most babies with Congenital Hypothyroidism appear normal at birth. The reason for this seems to be that the hypothyroid baby is protected from hypothyroidism by the effect of thyroid hormones passed from the mother. As a matter of fact, the cord thyroid hormone level of newborns without thyroid hormone synthesis reflects this well. Studies have shown that the cord thyroid hormone levels of these children are 1/3-1/2 of the cord thyroid hormone levels of normal children.
Failure to close the posterior fontanel or large posterior fontanel (normally the posterior fontanelle closes in the first months and the anterior fontanelle in 16-18 months), constipation, difficulty in sucking, prolonged jaundice, low body temperature, deep and harsh crying voice. , rough facial features, large tongue, and in older children, mental and motor retardation, limp baby state, dry skin, lack of attention, and difficulty in understanding are the symptoms that can be seen.
Blood measurements, thyroid ultrasonography and scintigraphy are used in diagnosis.
The aim of the treatment is to start appropriate thyroid hormone treatment as early as possible to protect intellectual development, ensure normal growth and development, and achieve normal or near-normal intelligence and mental development. Delay in treatment causes irreversible mental retardation. Diagnosis and treatment are very important. Tablets containing thyroid hormone are used in the treatment. It starts by calculating the initial dose according to the weight of the baby and dose adjustment is made if necessary with blood measurements at regular intervals. In addition, the weight of babies changes and the treatment dose should be adjusted according to weight at regular intervals. Compliance with treatment is important for the child's future intelligence level and development. Cases other than permanent causes such as the absence of thyroid tissue or its location elsewhere should be re-evaluated at the age of 3 after discontinuing their treatment for 4 weeks.
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