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Previous Volume 336:1390-1391 May 8, 1997 Number 19 Next

	Since this article has no abstract, we have provided an extract of the first 100 words of the full text and any section headings.

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To the Editor: The causes of congenital hypothyroidism are poorly understood. Recently, two different missense mutations in the extracellular domain of the thyrotropin receptor were identified in three siblings who had elevated serum thyrotropin concentrations but were euthyroid and had thyroid glands of normal size.¹ We describe a patient with congenital hypothyroidism and thyroid hypoplasia due to two loss-of-function mutations in exon 10 of the thyrotropin-receptor gene.

At birth the patient, the firstborn infant of nonconsanguineous parents, had a blood thyrotropin concentration of 89 mU per liter. Reexamination revealed a serum thyrotropin concentration of 82 mU per liter (normal, <10) . . . [Full Text of this Article]

References

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• Schoen, E. J., Clapp, W., To, T. T., Fireman, B. H. (2004). The Key Role of Newborn Thyroid Scintigraphy With Isotopic Iodide (123I) in Defining and Managing Congenital Hypothyroidism. Pediatrics 114: e683-e688 [Abstract] [Full Text]  
• Calaciura, F., Motta, R. M., Miscio, G., Fichera, G., Leonardi, D., Carta, A., Trischitta, V., Tassi, V., Sava, L., Vigneri, R. (2002). Subclinical Hypothyroidism in Early Childhood: A Frequent Outcome of Transient Neonatal Hyperthyrotropinemia. J. Clin. Endocrinol. Metab. 87: 3209-3214 [Abstract] [Full Text]  
• Knipper, M., Richardson, G., Mack, A., Muller, M., Goodyear, R., Limberger, A., Rohbock, K., Kopschall, I., Zenner, H.-P., Zimmermann, U. (2001). Thyroid Hormone-deficient Period Prior to the Onset of Hearing Is Associated with Reduced Levels of beta -Tectorin Protein in the Tectorial Membrane. IMPLICATION FOR HEARING LOSS. J. Biol. Chem. 276: 39046-39052 [Abstract] [Full Text]  
• Russo, D., Betterle, C., Arturi, F., Chiefari, E., Girelli, M. E., Filetti, S. (2000). A Novel Mutation in the Thyrotropin (TSH) Receptor Gene Causing Loss of TSH Binding But Constitutive Receptor Activation in a Family with Resistance to TSH. J. Clin. Endocrinol. Metab. 85: 4238-4242 [Abstract] [Full Text]  
• Knipper, M., Zinn, C., Maier, H., Praetorius, M., Rohbock, K., Kopschall, I., Zimmermann, U. (2000). Thyroid Hormone Deficiency Before the Onset of Hearing Causes Irreversible Damage to Peripheral and Central Auditory Systems. J. Neurophysiol. 83: 3101-3112 [Abstract] [Full Text]  
• Biebermann, H., Schöneberg, T., Schulz, A., Krause, G., Grüters, A., Schultz, G., Gudermann, T. (1998). A conserved tyrosine residue (Y601) in transmembrane domain 5 of the human thyrotropin receptor serves as a molecular switch to determine G-protein coupling. FASEB J. 12: 1461-1471 [Abstract] [Full Text]