Congenital hypothyroidism (CH) is a condition where a newborn's thyroid gland doesn't produce enough thyroid hormone. This hormone is crucial for normal growth and development, particularly brain development.

Why is early detection critical?

Subtle Early Signs: In newborns, CH often presents with subtle or no obvious symptoms initially. This lack of immediate, dramatic signs can delay diagnosis and treatment.

Irreversible Brain Damage: Untreated CH can lead to severe and irreversible consequences, including intellectual disability, developmental delays, and short stature.

Importance of Early Intervention: Early diagnosis and treatment with levothyroxine (synthetic thyroid hormone) are crucial for optimal neurodevelopmental outcomes. Timely intervention can significantly minimize the long-term effects of the condition.

Introduction: Congenital hypothyroidism (CH) is a condition where a newborn's thyroid gland fails to produce sufficient thyroid hormone. Early diagnosis and treatment are crucial for optimal neurodevelopment. This case report highlights the devastating consequences of untreated CH and emphasizes the importance of newborn screening programs.

Case Presentation: A 15-year-old female presented with delayed puberty, short stature, mental retardation, and chronic constipation. She was born at home to a family with limited socioeconomic resources and was not screened for CH at birth.

Clinical Findings:

Physical Examination:

    Short stature (height: 125 cm, <3rd percentile)

    Obesity

    Coarse facial features with a myxedematous appearance

    Macroglossia (enlarged tongue)

    Depressed nasal bridge

    Cold, dry skin

    Generalized hypotonia and hyporeflexia with a positive Woltman sign (delayed relaxation phase of deep tendon reflexes)

    Generalized abdominal distention with an umbilical hernia

Investigations:

    Hormonal Studies:

        Elevated TSH levels (343 IU/mL)

        Low free T4 (12 ng/mL) and T3 (0.2 ng/mL) levels, confirming primary hypothyroidism

    Imaging:

        Normal abdominal ultrasound

        Normal brain CT scan

Treatment: Levothyroxine replacement therapy was initiated to normalize thyroid hormone levels. Treatment for chronic constipation with laxatives.

Outcome: After two years of treatment, the patient showed slight improvement in cognitive function, becoming more responsive to her surroundings. Constipation was managed effectively. Artificial menstruation was induced at the age of 19 years.

Discussion: This case underscores the critical importance of newborn screening for CH. Untreated CH can lead to severe and irreversible neurodevelopmental consequences, including intellectual disability, short stature, and delayed puberty. Early diagnosis and prompt treatment with levothyroxine are essential for optimal neurodevelopmental outcomes.

Conclusion: This case highlights the devastating impact of untreated congenital hypothyroidism. Widespread implementation of newborn screening programs is crucial for early identification and timely intervention, thereby improving the quality of life for affected individuals.