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Previous Volume 332:183-185 January 19, 1995 Number 3 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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This issue of the Journal contains two reports that describe patients with thyroid dysfunction caused by mutations of the thyrotropin-receptor gene. Kopp et al. describe a child in whom a gain-of-function mutation led to continuous (constitutive) activation of the receptor and hyperthyroidism.¹ Sunthornthepvarakul et al. describe three sisters in whom loss-of-function mutations led to resistance to the action of thyrotropin and subclinical hypothyroidism.² Both groups of investigators not only identified the mutations but also studied the functional activity of the abnormal gene products to document the consequences of the mutations. These studies shed new light on how thyrotropin stimulates thyroid . . . [Full Text of this Article]

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• Tenenbaum-Rakover, Y., Grasberger, H., Mamanasiri, S., Ringkananont, U., Montanelli, L., Barkoff, M. S., Dahood, A. M.-H., Refetoff, S. (2009). Loss-of-Function Mutations in the Thyrotropin Receptor Gene as a Major Determinant of Hyperthyrotropinemia in a Consanguineous Community. J. Clin. Endocrinol. Metab. 94: 1706-1712 [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]