Endocrine Abstracts

JOINT949

Background: Goitrous hypothyroidism in infants and children represents a critical endocrine disorder with significant implications for growth, neurodevelopment, and overall prognosis. This condition arises from diverse etiologies, including genetic mutations, iodine deficiency, and autoimmune thyroiditis. Recent advances in diagnosis and treatment underscore the importance of timely intervention to improve outcomes.

Objective: To provide a comprehensive review of studies on goiterous hypothyroidism in infants and children, focusing on patient characteristics, treatment approaches, outcomes, and prognosis.

Methods: A systematic review of relevant studies published between 1995 and 2023 was conducted. Data from primary research, case reports, and review articles were analyzed to compile patient characteristics, treatment modalities, and outcomes. Studies were arranged chronologically to reflect advancements in understanding and management.

Results: Ten studies were reviewed, encompassing 267 patients with goiterous hypothyroidism. Key findings include the following:

1. Patient Characteristics:

• Conditions ranged from congenital hypothyroidism (CH) due to thyroid dysgenesis or dyshormonogenesis to autoimmune thyroiditis and fetal hypothyroidism linked to maternal Graves’ disease.

• Presenting symptoms varied, with neonatal respiratory distress and goiter being hallmark findings in severe cases.

• Risk factors included prematurity, family history of goiter, and maternal thyroid dysfunction.

2. Treatment Approaches:

• Levothyroxine remains the cornerstone of therapy, administered orally or intra-amniotically in fetal cases.

• Advances such as liquid levothyroxine formulations and prenatal thyroxine delivery via amniotic fluid were highlighted.

• Case reports emphasized the role of cordocentesis and ultrasonography in diagnosing and monitoring fetal thyroid function.

3. Outcomes and Prognosis:

• Early intervention consistently improved growth and neurodevelopmental outcomes.

• Intrauterine thyroxine resolved goiter in fetal cases, with normal postnatal thyroid function observed.

• Persistent hypothyroidism required long-term therapy in a subset of children with CH, while others experienced complete resolution.

Conclusion: This review underscores the critical role of timely diagnosis and tailored treatment in managing goiterous hypothyroidism in infants and children. Levothyroxine therapy, particularly in innovative forms, demonstrates robust efficacy in resolving goiter and normalizing thyroid function. Future research should focus on genetic etiologies and long-term outcomes to enhance individualized care. The chronological synthesis of data highlights the evolution of therapeutic strategies and their impact on prognosis.

Keywords: Goiterous hypothyroidism, infants, children, levothyroxine, treatment outcomes, prognosis, congenital hypothyroidism, intra-amniotic therapy.