Article
Salt-Losing 21-Hydroxylase Deficiency Caused by Double Homozygosity for Two "Mild" Mutations.
The Journal of clinical endocrinology and metabolism - 23 Jan 2021
Ilany Jacob, Liu Jiayan, Welsch Christoph, Reznik-Wolf Haike, Levy-Lahad Ephrat, Auchus Richard J
Abstract excerpt
CONTEXT: Congenital adrenal hyperplasia due to 21-hydroxylase deficiency presents with different severities that correlate with the genotype. The salt-losing phenotype requires 2 alleles with "severe" mutations. CASE DESCRIPTION: We present a case of salt-losing 21-hydroxylase deficiency that was...
Topics
- Adrenal Hyperplasia, Congenital
- Adult
- Consanguinity
- Family
- Genotype
- HEK293 Cells
- Homozygote
- Humans
- Israel
- Male
- Mutation, Missense
- Pedigree
- Salts
- Severity of Illness Index
- Steroid 21-Hydroxylase
- Water-Electrolyte Imbalance