Article
Activating mutation in the stimulatory guanine nucleotide-binding protein in an infant with Cushing's syndrome and nodular adrenal hyperplasia.
The Journal of clinical endocrinology and metabolism - 1 Sept 1994
Boston B A, Mandel S, LaFranchi S, Bliziotes M
Abstract excerpt
Cushing's syndrome in infancy is uncommon. In this report, we describe an infant with ACTH-independent Cushing's syndrome in which an activating mutation in the stimulatory G-protein (Gs alpha) was detected. The patient presented at 3 months of age with Cushingoid features, poor linear growth, an...
Topics
- Adrenal Hyperplasia, Congenital
- Base Sequence
- Cushing Syndrome
- DNA
- GTP-Binding Proteins
- Humans
- Infant
- Male
- Mutation
- Nucleic Acid Hybridization
- Oligonucleotide Probes
- Polymerase Chain Reaction