hrp0098p1-98 | Thyroid 1 | ESPE2024

The Influence of multiple gene mutations on the continuation of levothyroxine therapy in patients with congenital hypothyroidism due to dyshormonogenesis

Yoon Jung So , Lee Jeongho

Introduction: Congenital hypothyroidism (CH) is one of the most common endocrine disorder in neonates. A minority arises from dyshormonogenesis, an inborn error of thyroid hormone synthesis. Blood tests commonly reveal elevated thyroid-stimulating hormone levels, decreased thyroxine and thyroglobulin may be low or even undetectable. Thyroid ultrasonography could present a normally sized or enlarged gland. Thyroid scans might demonstrate atypical uptake pattern...