hrp0094p1-192 | Thyroid B | ESPE2021

Analysis of hypothyroidism NGS test in Korean patients with congenital hypothyroidism in a single center

Jung So Yoon , Lee Jeongho ,

Introduction: Thyroid hormone is known as greatly influence on growth and development in fetuses and newborns. If the detection of the disease is delayed, hypothyroidism can cause irreversible damage, so early detection and treatment is very important. Hypothyroidism can be divided into permanent and temporary cases depending on the duration of treatment, but there is no predictor that can completely differentiate those two. However, as genes related to hypoth...

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...