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Congenital Hypothyroidism

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Atlas of Genetic Diagnosis and Counseling

Abstract

All forms of congenital hypothyroidism occur in 1 in 4,000 live births worldwide. The dysgenetic form affects twice as many females as males. It is the most prevalent congenital endocrine disease. The incidence is approximately 1 in 32,000 in Blacks and 1 in 2,000 in Hispanics.

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References

  • Abramowicz, M. J., Duprez, L., Parma, J., et al. (1997a). Familial congenital hypothyroidism due to inactivating mutation of the thyrotropin receptor causing profound hypoplasia of the thyroid gland. Journal of Clinical Investigation, 99, 3018–3024.

    Article  CAS  PubMed  PubMed Central  Google Scholar 

  • Abramowicz, M. J., Vassart, G., & Refetoff, S. (1997b). Probing the cause of thyroid dysgenesis. Thyroid, 7, 325–336.

    Article  CAS  PubMed  Google Scholar 

  • Abuhamad, A. Z., Fisher, D. A., Worsof, S. L., et al. (1995). Antenatal diagnosis and treatment of fetal goitrous hypothyroidism: Case report and review of the literature. Ultrasound in Obstetrics & Gynecology, 6, 368–371.

    Article  CAS  Google Scholar 

  • Agrawal, P., Ogilvy-Stuart, A., & Lees, C. (2002). Intrauterine diagnosis and management of congenital goitrous hypothyroidism. Ultrasound in Obstetrics & Gynecology, 19, 501–505.

    Article  CAS  Google Scholar 

  • Agrawal, P., Philip, R., Saran, S., et al. (2015). Congenital hypothyroidism. Indian Journal of Endocrinology and Metabolism, 19, 221–227.

    Article  PubMed  PubMed Central  Google Scholar 

  • Ambrugger, P., Stoeva, I., Biebermann, H., et al. (2001). Novel mutations of the thyroid peroxidase gene in patients with permanent congenital hypothyroidism. European Journal of Endocrinology, 145, 19–24.

    Article  CAS  PubMed  Google Scholar 

  • American Academy of Pediatrics AAP Section on Endocrinology and Committee on Genetics, and American Thyroid Association Committee on Public Health. (1993). Newborn screening for congenital hypothyroidism: Recommended guidelines. Pediatrics, 91, 1203–1209.

    Google Scholar 

  • Banghova, K., Al Taji, E., Cinek, O., et al. (2008). Pendred syndrome among patients with congenital hypothyroidism detected by neonatal screening: Identification of two novel PDS/SLC26A4 mutations. European Journal of Pediatrics, 167, 777–783.

    Article  CAS  PubMed  Google Scholar 

  • Beltroy, E., Umpaichitra, V., Gordon, S., et al. (2003). Two infants who have coarse facial features and growth and developmental delay. Pediatrics in Review, 24, 16–21.

    Article  PubMed  Google Scholar 

  • Biebermann, H., Liesenkotter, K. P., Emeis, M., et al. (1999). Severe congenital hypothyroidism due to a homozygous mutation of the betaTSH gene. Pediatric Research, 46, 170–173.

    Article  CAS  PubMed  Google Scholar 

  • Brown, R. S. (2015). Congenital hypothyroidism. Endotext [Internet], April 12, 2015.

    Google Scholar 

  • Castanet, M., Polak, M., Bonaiti-Pellie, C., et al. (2001). Nineteen years of national screening for congenital hypothyroidism: Familial cases with thyroid dysgenesis suggest the involvement of genetic factors. Journal of Clinical Endocrinology and Metabolism, 86, 2009–2014.

    Article  CAS  PubMed  Google Scholar 

  • Clifton-Blight, R. J., Wentworth, J., Heinz, P., et al. (1998). Mutation of the gene encoding human TTF-2 associated with thyroid agenesis, cleft palate and choanal atresia. Nature Genetics, 18, 399–401.

    Article  Google Scholar 

  • Coyle, B., Reardon, W., Herbrick, J. A., et al. (1998). Molecular analysis of the PDS gene in Pendred syndrome. Human Molecular Genetics, 7, 1105–1112.

    Article  CAS  PubMed  Google Scholar 

  • Davidson, K. M., Richards, D. A., Schatz, D. A., et al. (1991). Successful in utero treatment of fetal goiter and hypothyroidism. The New England Journal of Medicine, 234, 543–546.

    Article  Google Scholar 

  • De Vijlder, J. J. M. (2003). Primary congenital hypothyroidism: Defects in iodine pathways. European Journal of Endocrinology, 149, 247–256.

    Article  PubMed  Google Scholar 

  • Delange, F. (1997). Neonatal screening for congenital hypothyroidism: Results and perspectives. Hormone Research, 48, 51–61.

    Article  CAS  PubMed  Google Scholar 

  • Fisher, D. A. (1997). Fetal thyroid function diagnosis and management of fetal thyroid disorders. Clinical Obstetrics and Gynecology, 40, 16–31.

    Article  CAS  PubMed  Google Scholar 

  • Grüters, A., & Krude, H. (2012). Detection and treatment of congenital hypothyroidism. National Reviews Endocrinology, 8, 104–113.

    Article  Google Scholar 

  • Grüters, A., Jenner, A., & Krude, H. (2002). Long-term consequences of congenital hypothyroidism in the era of screening programmes. Best Practice & Research. Clinical Endocrinology & Metabolism, 16, 369–382.

    Article  Google Scholar 

  • Hirsch, M., Josefsberg, Z., Schoenfeld, A., et al. (1990). Congenital hereditary hypothyroidism-prenatal diagnosis and treatment. Prenatal Diagnosis, 10, 491–496.

    Article  CAS  PubMed  Google Scholar 

  • Jain, V., Agarwal, R., Deorari, A. K., et al. (2008). Congenital hypothyroidism. Indian Pediatrics, 75, 363–367.

    Article  Google Scholar 

  • Kreisner, E., Camargo-Neto, E., Maia, C. R., et al. (2003). Accuracy of ultrasonography to establish the diagnosis and aetiology of permanent primary congenital hypothyroidism. Clinical Endocrinology, 59, 361–365.

    Article  CAS  PubMed  Google Scholar 

  • Kugelman, A., Riskin, A., Bader, D., et al. (2009). Pitfalls in screening programs for congenital hypothyroidism in premature newborns. American Journal of Perinatology, 26, 383–385.

    Article  PubMed  Google Scholar 

  • LaFranchi, S. (1999). Congenital hypothyroidism: Etiologies, diagnosis, and management. Thyroid, 9, 735–740.

    Article  CAS  PubMed  Google Scholar 

  • Macchia, P. E. (2000). Recent advances in understanding the molecular basis of primary congenital hypothyroidism. Molecular Medicine Today, 6, 36–42.

    Article  CAS  PubMed  Google Scholar 

  • Macchia, P. E., Lapi, P., Krude, H., et al. (1998). PAX8 mutations associated with congenital hypothyroidism caused by thyroid dysgenesis. Nature Genetics, 19, 83–86.

    Article  CAS  PubMed  Google Scholar 

  • Macchia, P. E., De Felice, M., & Di Lauro, R. (1999). Molecular genetics of congenital hypothyroidism. Current Opinion in Genetics and Development, 9, 289–294.

    Article  CAS  PubMed  Google Scholar 

  • Medeiros-Neto, G., Bunduki, V., Tomimori, E., et al. (1997). Prenatal diagnosis and treatment of dyshormonogenetic fetal goiter due to defective thyroglobulin synthesis. Journal of Clinical Endocrinology and Metabolism, 82, 4239–4242.

    CAS  PubMed  Google Scholar 

  • Moreno, J. C., Bikker, H., Kempers, M. J., et al. (2002). Inactivating mutations in the gene for thyroid oxidase 2 (THOX2) and congenital hypothyroidism. New England Journal of Medicine, 347, 95–102.

    Article  CAS  PubMed  Google Scholar 

  • Noia, G., De Santis, M., Tocci, A., et al. (1992). Early prenatal diagnosis and therapy of fetal hypothyroid goiter. Fetal Diagnosis and Therapy, 7, 138–143.

    Article  CAS  PubMed  Google Scholar 

  • Perelman, A. H., Johnson, R. L., Clemons, R. D., et al. (1990). Intrauterine diagnosis and treatment of fetal goitrous hypothyroidism. Journal of Clinical Endocrinology and Metabolism, 71, 618–621.

    Article  CAS  PubMed  Google Scholar 

  • Pfarr, N., Korsch, E., Kaspers, S., et al. (2006). Congenital hypothyroidism caused by new mutations in the thyroid oxidase 2 (THOX2) gene. Clinical Endocrinology, 65, 810–815.

    Article  CAS  PubMed  Google Scholar 

  • Rastogi, M. V., & LaFranchi, S. H. (2010). Congenital hypothyroidism. Orphanet Journal of Rare Diseases, 5, 17–38.

    Article  PubMed  PubMed Central  Google Scholar 

  • Schwingshandl, J., Donaghue, K., Luttrell, B., et al. (1993). Transient congenital hypothyroidism due to maternal thyrotrophin binding inhibiting immunoglobulin. Journal of Paediatrics and Child Health, 29, 315–318.

    Article  CAS  PubMed  Google Scholar 

  • Smith, D. W., Klein, A. M., Henderson, J. R., et al. (1975). Congenital hypothyroidism-signs and symptoms in the newborn period. Journal of Pediatrics, 87, 958–962.

    Article  CAS  PubMed  Google Scholar 

  • Vilain, C., Rydlewski, C., Duprez, L., et al. (2001). Autosomal dominant transmission of congenital thyroid hypoplasia due to loss-of-function mutation of PAX8. Journal of Clinical Endocrinology and Metabolism, 86, 234–238.

    CAS  PubMed  Google Scholar 

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Chen, H. (2017). Congenital Hypothyroidism. In: Atlas of Genetic Diagnosis and Counseling. Springer, New York, NY. https://doi.org/10.1007/978-1-4939-2401-1_54

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  • DOI: https://doi.org/10.1007/978-1-4939-2401-1_54

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