hrp0092p1-430 | Thyroid (2) | ESPE2019

Clinical Characteristics and Long-Term Follow-Up of Patients with Congenital Hypothyroidism (CH) due to Thyroid Peroxidase (TPO) Gene Mutations

Tobias Leraz , Almagor Tal , Admoni Osnat , Khayat Morad , Elias-Assad Gadhir , Almashanu Shlomo , Tenenbaum-Rakover Yardena

Backround: Hereditary inborn errors of thyroid hormone synthesis account for 10-15% of congenital hypothyroidism (CH). Thyroid peroxidase (TPO) deficiency is the most common enzymatic defect with a frequency of 50-90%.Aim: In the present study our objective was to characterize the long-term clinical outcome in patients with TPO deficiency and to assess the association between development of multinodular goiter (M...