Congenital Hypothyroidism Flashcards
What is the most common cause of congenital hypothyroidism?
The most common cause of congenital hypothyroidism is thyroid dysgenesis, which includes conditions such as thyroid agenesis, hypoplasia, or ectopy.
How does iodine deficiency contribute to congenital hypothyroidism?
Iodine deficiency can lead to transient hypothyroidism in infants. However, this is less common in regions where iodine supplementation is routine.
What are the potential consequences of untreated congenital hypothyroidism?
Untreated congenital hypothyroidism, particularly if resulting from thyroid dysgenesis, can lead to severe hypothyroidism and mental retardation if not promptly treated after birth
What is the incidence of congenital hypothyroidism, and which population is it more common in?
: The incidence of congenital hypothyroidism ranges from 1 in 4000 to 1 in 10,000 births, with higher rates reported in Caucasian infants compared to other ethnic groups.
How can congenital hypothyroidism be managed to prevent long-term complications?
Congenital hypothyroidism can be effectively managed with early diagnosis and treatment, typically involving thyroid hormone replacement therapy. Regular monitoring and follow-up are essential to ensure optimal growth and development and prevent long-term complications such as mental retardation.
Why do the majority of infants with congenital hypothyroidism not exhibit clinical manifestations at birth?
The majority of infants with congenital hypothyroidism do not show clinical signs at birth because some maternal thyroxine (T4) crosses the placenta, providing temporary thyroid hormone support to the fetus.
What are some clinical signs that may indicate congenital hypothyroidism in newborns?
Clinical signs of congenital hypothyroidism in newborns may include a large tongue (macroglossia), umbilical hernia, prolonged jaundice, feeding difficulties, reduced bone age, and wide cranial sutures
Why is it important to recognize and diagnose congenital hypothyroidism despite the absence of obvious clinical manifestations?
Despite the lack of obvious clinical signs in most cases, it is crucial to recognize and diagnose congenital hypothyroidism early to prevent long-term complications such as developmental delay and intellectual disability.
How can healthcare providers detect congenital hypothyroidism in newborns?
Healthcare providers can screen for congenital hypothyroidism through newborn screening programs, which typically involve collecting a blood sample from the infant’s heel shortly after birth to measure thyroid hormone levels.
What role does thyroid function testing play in confirming the diagnosis of congenital hypothyroidism?
Thyroid function testing, including measuring thyroid-stimulating hormone (TSH) and thyroxine (T4) levels, is essential for confirming the diagnosis of congenital hypothyroidism and determining the appropriate treatment.
Why is routine umbilical cord blood screening for thyroid agenesis recommended?
Routine umbilical cord blood screening for thyroid agenesis is recommended to facilitate early detection and intervention for congenital hypothyroidism. This screening allows for prompt identification of infants with elevated thyroid-stimulating hormone (TSH) and low total thyroxine (T4) levels, indicative of thyroid dysfunction.
What should healthcare providers suspect if a newborn presents with raised TSH and low total T4 levels?
Healthcare providers should suspect thyroid agenesis or congenital hypothyroidism if a newborn exhibits raised TSH and low total T4 levels. These findings warrant further investigation and prompt treatment to prevent complications.
How can countries include thyroid screening as part of a more extensive metabolic screen?
Countries can incorporate thyroid screening into existing newborn metabolic screening programs. This comprehensive approach allows for the simultaneous assessment of various metabolic disorders, including congenital hypothyroidism, ensuring early detection and appropriate management.
Why is it advised not to test for TSH in the first 48 hours of life in newborns?
Testing for TSH in the first 48 hours of life is not recommended due to the physiological TSH surge that occurs during this period. Waiting beyond this timeframe helps avoid false-positive results and ensures accurate interpretation of thyroid function tests
What are the potential benefits of TSH screening in detecting congenital hypothyroidism?
TSH screening may detect less severe forms of congenital hypothyroidism, such as enzyme defects or ectopic thyroid, which may not be apparent based on clinical presentation alone. Early detection through screening allows for timely intervention and improved outcomes for affected infants.
