Transient Congenital Hypothyroidism Due to Biallelic Defects in DUOX2 Gene.

ENACAN, ROSA E.; MASNATA, MARÍA E.; PAPENDIECK, PATRICIA; BELFORTE, FIORELLA S.; TARGOVNIK, HÉCTOR M.; GRUÑEIRO-PAPENDIECK, LAURA; RIVOLTA, CARINA M.; CHIESA, ANA

Puerto Varas

Congreso; XXV Congreso de la Sociedad Latinoamericana de Endocrinología Pediátrica.; 2015

Sociedad Latinoamericana de Endocrinología Pediátrica

Introduction: Dual oxidases (DUOX1 and 2) are components of the thyroid hidrogen peroxide (H2O2) generating system needed for the thyroid hormone organification.Mutations in the DUOX2 gen (DUOX2) have been described in transient and permanent congenital hypothyroidism (CH) presenting with goiter and positive perchlorate discharge test.Subjects and Methods: We report two siblings born from unrelated healthy parents.The eldest was detected through neonatal screening with slightly elevated TSH. At 1 month she was treated with LT4 with TSH:32 mU/l,T4 13 ug/dl, FT4:1.46 ng/dl and TG:266 ng/dl (Normal reference(NR): 30-100) and goiter in the Tc99 scan . Treatment was withdrawn at 2.9 years of age when she showed normal TSH, T4 and FT4 levels and TG:41,7 ng/dl (NR 6-30).Perchlorate discharge was 17% (Normal g ,p.Y425X) in the maternal allele were found.Their healthy brother harbored only the exon 11 mutation.Conclusion: Molecular TPO and DUOX evaluation should be carried out when permanent o transient organification disorders are suspected. As our findings confirm, the magnitude of the defect is not related to the number of inactivated alleles. Biallelic defects of DUOX2 in transient CH infers compensatory mechanisms in the peroxide supply.