Abstract
To determine whether glucocorticoid resistance due to mutations in the glucocorticoid receptor (GRL) gene is associated with premature pubarche, hirsutism, or oligo/amenorrhea, we performed single-strand conformational polymorphism analysis of genomic DNA obtained from 25 children and 16 adolescent girls referred for the evaluation of premature pubarche, hirsutism, or oligo/amenorrhea. A missense mutation, N363S, and a presumed polymorphism in the 3'-UTR of exon 9alpha were identified. We conclude that glucocorticoid resistance due to GRL mutations is an infrequent cause of mild hyperandrogenism.
Copyright 1999 Academic Press.
Publication types
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Research Support, Non-U.S. Gov't
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Research Support, U.S. Gov't, P.H.S.
MeSH terms
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3' Untranslated Regions / genetics
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Adolescent
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Adrenocorticotropic Hormone
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Amenorrhea / genetics*
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Amino Acid Substitution
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Child
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DNA / blood
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Drug Resistance / genetics
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Exons
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Female
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Genetic Variation
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Genotype
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Glucocorticoids / physiology
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Hirsutism / genetics*
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Humans
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Hydrocortisone / blood
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Hyperandrogenism / genetics*
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Male
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Mutation, Missense*
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Point Mutation
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Polymorphism, Single-Stranded Conformational*
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Puberty, Precocious / genetics*
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Receptors, Glucocorticoid / chemistry
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Receptors, Glucocorticoid / genetics*
Substances
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3' Untranslated Regions
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Glucocorticoids
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Receptors, Glucocorticoid
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Adrenocorticotropic Hormone
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DNA
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Hydrocortisone