Multiple follicular adenomas in a girl with congenital hypothyroidism due to a thyroid peroxidase (TPO)gene mutation

PAPENDIECK, P; GOTTLIEB, S; GRUÑEIRO-PAPENDIECK, L; PAPENDIECK, C ; IOTTI, A; TARGOVNIK, H; RIVOLTA, C; CHIESA A

Montevideo

Congreso; XIII Annual meeting SLEP; 2012

SLEP

Congenital primary hypothyroidism occurs in 1/3000 neonates. Defects in thyroid hormonogenesis (dyshormonogenesis) represent about one-fifth of the cases. Few patients have been reported to date with thyroid tumors. Objective: Report the case of a girl with congenital hypothyroidism due to an organification defect that developed multiple follicular adenomas. Case report: A 16 year old girl with a thyroperoxidase defect (compound heterozygous c.215del A p.Q72fsX86 mutation in exon 4 and c.2422T>C p.C808R mutation in exon 14) diagnosed at birth by neonatal screening with a TSH >200 mIU/L, TG 314 μg/L and goiter. She was reevaluated at age 6 with a perchlorate discharge of 77%. Early treated with poor compliance since age 4, presented at age 16 with multinodular goiter. Due to persistence of thyroid nodules and suspicious US signs total thyroidectomy was performed. Histopathological examination diagnosed five follicular adenomas. Conclusions: Congenital hypothyroidism due to dyshormonogenesis may develop thyroid tumors. Although inadequate thyroid hormone treatment compliance may be the cause of thyroid enlargement, the potential tumorigenetic effects of the mutations found in this patient are unknown underscoring the importance of a careful and regular follow-up