Background: Congenital goitre presenting in the newborn period is very rare. Here we present a case of congenital hypothyroidism with a large goitre, leading to trachea compression symptoms. Hormone replacement therapy was started leading to normal levels of TSH, FT4, and thyroid volume. In face of maternal normal thyroid levels, dyshormonogenesis considered to be the most probable cause of hypothyroidism.
Case presentation: A male full term newborn to non-consanguineous healthy parents. Neck mass was first diagnosed by ultrasound at 33 weeks of gestation. The boy incubated soon after birth due to breathing abnormalities and asphyxia, which were caused by trachea compression. He was diagnosed with congenital goitre and thyroid deficiency at day 1 of life (goitre volume 55 ml, TSH levels >75 mIU/l, and FT4 levels <4.5 pmol/l). In addition, he was found to have trial septal defect and cardiomegaly. Therapy with levothyroxine started on day 2 of life at the initial dosage of 15 mg/kg per day, what lead to immediate reduction of the goitre volume and possibility of extubation. Normalisation of TSH and FT4 levels achieved at 29 days of life. Goitre volume decreased down to 13 ml by the 29th day of life. Patients DNA was analysed for a wide genetic panel, including NKX2-1, UBR1, GLIS3, AITD3, TRH, SLC26A4, SECISBP2, DUOXA2, THRB, IYD, SLC5A5, DUOX2, TRHR, TSHR, DUOX1, THRA, SLC16A2, TPO, TSHB, FOXE1, PAX8, GNAS, and NKX2-5 genes, by using massive parallel sequencing, no mutations were found.
Conclusion: Congenital hypothyroid goitre can grow huge volume. In our case, it led to trachea compression and need for mechanical ventilation. Even though we were not able to find mutations in genes, known to be involved in thyroid formation, we suspect dyshormonogenesis as the most possible cause of goitre development. Additional genetics studies should be performed in attempt to disclose other possible mechanisms.
01 - 03 Oct 2015
European Society for Paediatric Endocrinology