JOURNAL OF CLINICAL ENDOCRINOLOGY & METABOLISM, cilt.99, sa.1, 2014 (SCI-Expanded)
Context: Congenital hypothyroidism, the most frequent endocrine congenital disease, can occur either based on a thyroid hormone biosynthesis defect or can predominantly be due to thyroid dysgenesis. However, a genetic cause could so far only be identified in less than 10% of patients with a thyroid dysgenesis.