A RECURRENT MUTATION IN TSHB GENE UNDERLYING CENTRAL CONGENITAL HYPOTHYROIDISM UNDETECTABLE IN NEONATAL SCREENING.
Maria de Fátima BorgesHoracio Mario DomenéPaula Alejandra ScagliaBeatriz Hallal Jorge LaraHeloísa Marcelina da Cunha PalharesAndréia Vasconcelos Aguiar SantosAmanda Lacerda Ferreira GonçalvesMarília Matos OliveiraAlessandra Bernadete Trovó de MarquiPublished in: Revista paulista de pediatria : orgao oficial da Sociedade de Pediatria de Sao Paulo (2019)
The c.373delT mutation has previously been reported in patients from Brazil, Germany, Belgium, United States, Switzerland, Argentina, France, Portugal, United Kingdom and Ireland. In summary, our case and other ones reported in the literature support the theory that this mutation may be a common cause of isolated TSH deficiency. Isolated TSH deficiency is not detected by routine TSH-based neonatal screening, representing a clinical challenge. Therefore, when possible, molecular genetic study is indicated. Identification of affected and carriers allows the diagnosis, treatment and adequate genetic counseling.