A novel mutation in the TG gene (G2322S) causing congenital hypothyroidism in a Sudanese family: a case report

• Main Authors: Y. Watanabe (Author), E. Sharwood (Author), B. Goodwin (Author), M. K. Creech (Author), H. Y. Hassan (Author), M. G. Netea (Author), M. Jaeger (Author), A. Dumitrescu (Author), S. Refetoff (Author), T. Huynh (Author), R. E. Weiss (Author)
• Format: Book
• Published: BMC, 2018-05-01T00:00:00Z.
• Subjects: article
• Online Access: Connect to this object online.

Abstract Background Congenital hypothyroidism (CH) has an incidence of approximately 1:3000, but only 15% have mutations in the thyroid hormone synthesis pathways. Genetic analysis allows for the precise diagnosis. Case presentation A 3-week old girl presented with a large goiter, serum TSH > 100...