Clinical syndromes of hormone receptor mutations: hormone resistance and independence.

Abstract excerpt

Clinical syndromes of hormone resistance or independence have baffled clinicians for decades. These syndromes sometimes result from mutations or deficiencies in enzymes that activate prohormones or from alterations in signal transduction proteins. The majority of these conditions, however, arise from abnormalities of hormone receptors. We describe examples of syndromes that result from genetic mutations or...

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