Clinical syndromes of hormone receptor mutations: hormone resistance and independence.
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 misexpression of steroid/thyroid hormone receptors, with a specific emphasis on thyroid and androgen resistance syndromes, and estrogen independence in breast cancer.
Auchus
R J
RJ
Department of Endocrinology, Wilford Hall Medical Center, Lackland AFB, TX 78236.
Fuqua
S A
SA
D000818:Animals; D004700:Endocrine System Diseases / Q000209:etiology / Q000235:genetics*; D006728:Hormones / Q000502:physiology; D006801:Humans; D009154:Mutation; D011987:Receptors, Steroid / Q000235:genetics*; D011988:Receptors, Thyroid Hormone / Q000235:genetics*; D013577:Syndrome
D006728:Hormones; D011987:Receptors, Steroid; D011988:Receptors, Thyroid Hormone