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CONGENITAL HYPOTHYROIDISM: IMPORTANCE OF EARLY DIAGNOSIS AND
TREATMENT
Jo’rayeva Gulhayo Jalol qizi
Asian International University.
https://doi.org/10.5281/zenodo.15494038
Abstract. Congenital hypothyroidism (CH) is a prevalent endocrine disorder in
newborns, primarily caused by thyroid dysgenesis or dyshormonogenesis. The deficiency of
thyroid hormones from birth can severely impair neurological development and physical growth
if left untreated. Since clinical signs may be subtle or absent in the neonatal period, universal
newborn screening programs are vital for early detection. Timely diagnosis and prompt
initiation of levothyroxine therapy can prevent irreversible cognitive impairment and ensure
normal development. This article highlights the etiology, clinical presentation, diagnostic
approach, treatment strategies, and prognosis of CH.
Keywords: congenital hypothyroidism, neonatal screening, thyroid hormones,
levothyroxine, early diagnosis.
Introduction
Congenital hypothyroidism (CH) is one of the most common preventable causes of
intellectual disability in children. It is defined as thyroid hormone deficiency present at birth.
The condition can result from absent, underdeveloped, or ectopically located thyroid
gland (thyroid dysgenesis), or from defects in hormone synthesis (dyshormonogenesis). Early
diagnosis and intervention are critical, as untreated CH can lead to irreversible mental
retardation, poor growth, and delayed development. The implementation of neonatal screening
programs worldwide has significantly improved outcomes.
Etiology and Pathogenesis
CH can arise from various anatomical and functional abnormalities. The most frequent
cause (approximately 85%) is thyroid dysgenesis, including agenesis, hypoplasia, or ectopia.
Dyshormonogenesis, often inherited in an autosomal recessive manner, involves enzymatic
defects in thyroid hormone production. Central hypothyroidism, due to pituitary or hypothalamic
dysfunction, is less common. In some regions, iodine deficiency during pregnancy remains a
major risk factor.
Clinical Manifestations
Symptoms of CH in newborns are often mild or nonspecific. Common features include
prolonged jaundice, constipation, lethargy, feeding difficulties, macroglossia, umbilical hernia,
and hypotonia. In the absence of early treatment, infants may develop coarse facial features,
delayed milestones, and severe intellectual disability. Due to this subtle presentation, clinical
suspicion alone is insufficient; hence, the need for routine screening.
Diagnosis
Diagnosis is primarily based on newborn screening using TSH and/or T4 levels. Elevated
TSH with low T4 confirms primary hypothyroidism. Follow-up tests may include serum free T4,
total T4, and thyroid ultrasonography or scintigraphy to determine the gland’s presence and
position. Early diagnosis within the first two weeks of life is essential to initiate timely treatment
and prevent complications.
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Treatment
Levothyroxine is the treatment of choice. Therapy should start as soon as CH is
confirmed, ideally within the first 14 days of life. The recommended starting dose is 10–15
µg/kg/day, adjusted based on TSH and free T4 levels. Regular follow-up and dosage adjustments
are essential to ensure normal growth and neurodevelopment. Treatment may be lifelong, though
some cases of transient CH can be re-evaluated at 3 years of age to confirm persistence.
Prognosis
When diagnosed early and treated adequately, children with CH can achieve normal
intellectual and physical development. Delayed diagnosis and insufficient treatment increase the
risk of permanent cognitive deficits, growth retardation, and motor impairments. Public health
efforts should focus on universal screening, parental education, and healthcare provider training
to improve outcomes.
Conclusion
Congenital hypothyroidism is a serious but manageable condition. Universal neonatal
screening and early initiation of levothyroxine therapy are critical steps to prevent irreversible
complications. With timely intervention and proper monitoring, affected children can lead
healthy, normal lives.
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