Hypothyroïdis

Hypothyroïdis is a rare genetic disorder characterized by the underdevelopment or absence of the thyroid gland, leading to hypothyroidism from birth. The condition can be detected through newborn screening programs and is typically diagnosed based on clinical findings and laboratory tests indicating low levels of thyroid hormones (T4) and elevated thyroid-stimulating hormone (TSH).

The primary cause of hypothyroïdis is genetic mutations affecting thyroid development, though environmental factors may also play a role. Symptoms in affected infants can include poor feeding, jaundice, constipation, hypotonia (weak muscle tone), and a distended abdomen. If untreated, hypothyroidism can lead to intellectual disability, growth failure, and developmental delays.

Diagnosis involves measuring serum levels of TSH and T4, alongside imaging studies such as ultrasound or scintigraphy to evaluate thyroid tissue. Early detection and treatment are crucial in preventing long-term complications.

Treatment typically involves lifelong thyroid hormone replacement therapy with levothyroxine, which normalizes hormone levels and supports proper growth and development. Regular monitoring is essential to ensure appropriate dosing.

Prognosis for individuals with hypothyroïdis who receive prompt and continuous treatment is generally favorable, with most children achieving normal growth and cognitive development. However, untreated hypothyroidism during infancy can result in significant developmental deficits.

Due to its genetic basis, hypothyroïdis is often inherited in an autosomal recessive pattern, although sporadic cases may occur. Genetic counseling is recommended for affected families.

Overall, hypothyroïdis underscores the importance of neonatal screening programs for early diagnosis and intervention, which significantly improve outcomes for affected individuals.