Congenital hypothyroidism: etiology

J Pediatr Endocrinol Metab. 2010 Aug;23(8):815-26. doi: 10.1515/jpem.2010.131.


The etiology of congenital hypothyroidism (CH) is important in determining its severity, prognosis, genetic counseling and clinical management.

Aims: investigate the causes of CH and their severity using serum levels of FreeT4 and TSH.

Patients and methods: 243 neonates with CH (61% were girls) diagnosed by the Neonatal Screening Program of Minas Gerais between 1996 and 2003. The thyroid function was assessed through serum FreeT4 and TSH by chemilumiscence. CH etiology was evaluated by ultrasonography, scintigraphy, potassium perchlorate discharge test and serum thyroglobulin levels.

Results: Out of 243 patients, dysgenesis was found in 114 (47%): 3.3% had athyreosis; 0.4% eutopic dysgenetic gland due to maternal use of 131I; 22% ectopic glands (8.6% an isolated ectopic gland and 13% also an eutopic dysgenetic thyroid); 9% eutopic dysgenesis, 8.6% hypoplasia and 3.7% hemiagenesis. Thyroid in situ was found in 129 (52%): 23.5% had iodide organification defect; 3.7% thyroglobulin synthesis defect; 6.2% other 0.4% dyshomonogenesis; iodide transport defect; 1.2% transient CH and 18% a normal gland. Patients with dysgenesis had a more severe CH than those with thyroid in situ (TSH 248.08 vs. 18.17 microIU/mL and FT4 0.32 vs. 0.95 ng/dL, p < 0.001).

Conclusions: Some cases had more complex dysgenesis, presenting ectopia associated to a dysgenetic eutopic gland. The ultrasound was the best tool to detect the dysgenetic tissue, but the scintigraphy was the most effective in identifying the functioning tissue. The thyroid hormone synthesis defects were found more frequently than expected, but in some cases they could not be defined.

MeSH terms

  • Congenital Hypothyroidism / blood
  • Congenital Hypothyroidism / diagnosis
  • Congenital Hypothyroidism / etiology*
  • Female
  • Humans
  • Infant, Newborn
  • Male
  • Mass Screening / methods
  • Radionuclide Imaging
  • Thyroid Gland / metabolism
  • Thyroid Gland / pathology*
  • Ultrasonography