Searchable abstracts of presentations at key conferences in endocrinology

ea0081ep1064 | Thyroid | ECE2022

Congenital hypothyroidism due to hormone synthesis disorder: the value of early diagnosis

Farah Kamel , Abdouly Mohamedou , Azriouil Manal , Rifai Kaoutar , Iraqi Hind , Hassan El Gharbi Mohamed

Introduction: Primary congenital hypothyroidism is the most common neonatal endocrine disorder, traditionally subdivided into thyroid dysgenesis, referring to a range of abnormalities in thyroid development, and dyshormonogenesis. We report two cases of dyshormonogenesis in a brother and sister followed for congenital hypothyroidism by inactivating mutation of the TSH receptor, illustrating the good evolution in case of an adapted treatment.Clinical case...