Endocrine Abstracts

JOINT611

Background: Goiterous hypothyroidism in infants and children is a critical endocrine disorder with diverse etiologies, ranging from congenital defects to autoimmune thyroiditis. Recent advancements in treatment have improved outcomes, particularly through novel therapeutic strategies and early interventions.

Objective: To summarize and analyze the recent advances in the treatment of goiterous hypothyroidism in infants and children, with a focus on novel therapies, their outcomes, and associated advancements.

Methods: A comprehensive review of studies published between 1996 and 2024 was conducted. Key studies were identified based on their focus on novel treatments, including liquid levothyroxine formulations, intra-amniotic therapy, precision medicine, and surgical interventions. Data on study characteristics, findings, and therapeutic outcomes were extracted and organized chronologically.

Results: The review encompassed 17 studies, highlighting significant advancements in treatment approaches:.

• Liquid and Soft Gel Levothyroxine: Improved bioavailability and absorption, particularly in cases of malabsorption or drug interferences, ensuring better thyroid hormone control and growth outcomes (Fallahi et al., 2017).

• Intra-Amniotic Thyroxine Therapy: Demonstrated efficacy in reducing fetal goiter size and improving neonatal thyroid function, especially in cases of maternal Graves’ disease or dyshormonogenesis (Kobayashi et al., 2017; Miyata et al., 2007).

• Precision Medicine: Genetic insights have enabled targeted therapies for thyroglobulin (TG) and thyroid peroxidase (TPO) mutations, improving treatment of congenital goiter and dyshormonogenesis (Rodrigues et al., 2021).

• Screening and Early Treatment: Expanded newborn screening has enabled timely levothyroxine initiation, preventing neurocognitive deficits and supporting normal growth (Wassner & Brown, 2015).

• Surgical Interventions: Total thyroidectomy has improved outcomes in patients with large, resistant goiters, resolving compressive symptoms and enhancing quality of life (Li et al., 2020).

• High-Dose Levothyroxine: Early initiation in severe congenital hypothyroidism improved developmental milestones and normalized cognitive function (Dubuis et al., 1996).

Conclusions: Recent advancements in treatment emphasize the critical role of early diagnosis and tailored therapies. Intra-amniotic thyroxine, liquid levothyroxine formulations, and genetic insights have significantly improved outcomes in fetal and pediatric hypothyroidism. Future research should focus on long-term outcomes and the integration of precision medicine into routine care.

Keywords: Goiterous hypothyroidism, infants, children, levothyroxine, intra-amniotic therapy, precision medicine, radioactive iodine, congenital hypothyroidism, thyroidectomy.