Article
Genetic heterogeneity of adrenocorticotropin (ACTH) resistance syndromes: identification of a novel mutation of the ACTH receptor gene in hereditary glucocorticoid deficiency.
Molecular genetics and metabolism - 1 Aug 1998
Wu S M, Stratakis C A, Chan C H, Hallermeier K M, Bourdony C J, Rennert O M, Chan W Y
Abstract excerpt
Hereditary primary adrenal insufficiency syndromes due to ACTH resistance include hereditary glucocorticoid deficiency (HGD) and Allgrove's syndrome (AS). Patients with both conditions present in childhood with failure to thrive, weakness, and fatigue or adrenal crisis; patients with AS in additi...
Topics
- Adrenal Insufficiency
- Amino Acid Sequence
- Base Sequence
- Cyclic AMP
- DNA Primers
- Female
- Genetic Heterogeneity
- Glucocorticoids
- Heterozygote
- Homozygote
- Humans
- Male
- Molecular Sequence Data
- Mutation
- Pedigree