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DIAGNOSIS OF ENDOCRINE DISEASE: Congenital hypothyroidism: update and perspectives.
Peters C, van Trotsenburg ASP, Schoenmakers N. Peters C, et al. Eur J Endocrinol. 2018 Dec 1;179(6):R297-R317. doi: 10.1530/EJE-18-0383. Eur J Endocrinol. 2018. PMID: 30324792 Review.
Congenital hypothyroidism (CH) may be primary, due to a defect affecting the thyroid gland itself, or central, due to impaired thyroid-stimulating hormone (TSH)-mediated stimulation of the thyroid gland as a result of hypothalamic or pituitary pathology. Prim …
Congenital hypothyroidism (CH) may be primary, due to a defect affecting the thyroid gland itself, or central, due to impaired thy …
Development of the thyroid gland: lessons from congenitally hypothyroid mice and men.
Van Vliet G. Van Vliet G. Clin Genet. 2003 Jun;63(6):445-55. doi: 10.1034/j.1399-0004.2003.00107.x. Clin Genet. 2003. PMID: 12786749 Review.
In 10-20% of cases, it is due to autosomal recessive functional disorders leading to goiter formation (thyroid dyshormonogenesis). In the remainder, it is due to thyroid dysgenesis, which comprises usually isolated defects in: (1) migration of the median t …
In 10-20% of cases, it is due to autosomal recessive functional disorders leading to goiter formation (thyroid dyshormonogenesis …
Congenital hypothyroidism caused by new mutations in the thyroid oxidase 2 (THOX2) gene.
Pfarr N, Korsch E, Kaspers S, Herbst A, Stach A, Zimmer C, Pohlenz J. Pfarr N, et al. Clin Endocrinol (Oxf). 2006 Dec;65(6):810-5. doi: 10.1111/j.1365-2265.2006.02672.x. Clin Endocrinol (Oxf). 2006. PMID: 17121535 Review.
PATIENTS: Two girls found to have CH in the neonatal screening programme and suspected of having thyroid dyshormonogenesis were investigated to identify their molecular defect. ...Mutations in the THOX2 gene should be considered as the molecular cause of CH in young …
PATIENTS: Two girls found to have CH in the neonatal screening programme and suspected of having thyroid dyshormonogenesis wer …