A RECURRENT MUTATION IN TSHB GENE UNDERLYING CENTRAL CONGENITAL HYPOTHYROIDISM UNDETECTABLE IN NEONATAL SCREENING

• Hauptverfasser: Maria de Fátima Borges (Verfasst von), Horacio Mario Domené (Verfasst von), Paula Alejandra Scaglia (Verfasst von), Beatriz Hallal Jorge Lara (Verfasst von), Heloísa Marcelina da Cunha Palhares (Verfasst von), Andréia Vasconcelos Aguiar Santos (Verfasst von), Amanda Lacerda Ferreira Gonçalves (Verfasst von), Marília Matos Oliveira (Verfasst von), Alessandra Bernadete Trovó de Marqui (Verfasst von)
• Format: Buch
• Veröffentlicht: Sociedade de Pediatria de São Paulo.
• Schlagworte: article
• Online-Zugang: Connect to this object online.

ABSTRACT Objective: To describe the case of a patient with central congenital hypothyroidism (CCH) due to a recurrent mutation in the TSHB gene, as well as to conduct a genetic study of his family. Case description: It is presented a case report of a 5-month-old boy with a delayed diagnosis of isola...