Hypothyroidism and hyperthyroidism

Hypothyroidism and hyperthyroidism


  • Giulia Guerri MAGI’s Lab, Rovereto (TN), Italy
  • Simone Bressan MAGI’s Lab, Rovereto (TN), Italy
  • Marianna Sartori MAGI’s Lab, Rovereto (TN), Italy
  • Alisia Costantini MAGI’s Lab, Rovereto (TN), Italy
  • Sabrina Benedetti MAGI’s Lab, Rovereto (TN), Italy
  • Francesca Agostini MAGI’s Lab, Rovereto (TN), Italy
  • Silvia Tezzele MAGI’s Lab, Rovereto (TN), Italy
  • Stefano Cecchin MAGI’s Lab, Rovereto (TN), Italy
  • Andrea Scaramuzza Department of Pediatrics, Ospedale Maggiore di Cremona, Cremona, Italy
  • Matteo Bertelli MAGI Euregio, Bolzano, Italy


Congenital hypothyroidism, non-autoimmune hyperthyroidism, thyroxine


Congenital hypothyroidism is a condition in which the thyroid gland does not produce enough thyroid hormones. It occurs in 1:2000-4000 newborns. Common clinical features include decreased activity and increased sleep, feeding difficulty, constipation, prolonged jaundice, myxedematous facies, large fontanels (especially posterior), macroglossia, distended abdomen with umbilical hernia, and hypotonia. Slow linear growth and developmental delay are usually apparent by 4-6 months of age. Without treatment, congenital hypothyroidism leads to severe intellectual deficit and short stature. Congenital hyperthyroidism occurs when the thyroid gland produces too much of the hormone thyroxine, which can accelerate body metabolism, causing unintentional weight loss and a rapid or irregular heartbeat. Hyperthyroidism is very rare and its prevalence is unknown. Common clinical features include unintentional weight loss, tachycardia, arrhythmia, palpitations, anxiety, tremor and sweating. Here we summarize the genes involved in congenital hypo- and hyperthyroidism and the tests we use for genetic analysis.




How to Cite

Guerri G, Bressan S, Sartori M, Costantini A, Benedetti S, Agostini F, et al. Hypothyroidism and hyperthyroidism. Acta Biomed [Internet]. 2019 Sep. 30 [cited 2024 Jul. 23];90(10-S):83-6. Available from: https://mattioli1885journals.com/index.php/actabiomedica/article/view/8765