Salt-Losing 21-Hydroxylase Deficiency Caused by Double Homozygosity for Two "Mild" Mutations.
J Clin Endocrinol Metab
; 106(2): e680-e686, 2021 01 23.
Article
en En
| MEDLINE
| ID: mdl-33245778
ABSTRACT
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 found to be homozygous for 2 "mild" pathogenic variants V281L and S301Y. Both in silico and heterologous expression functional analysis demonstrated that co-occurrence of these 2 mutations in cis severely impairs the function of the 21-hydroxylase enzyme. CONCLUSIONS:
This case has important implications for genetic counseling. Regarding this combination of 2 "mild" variants as having mild phenotypic effects could lead to inappropriate counseling of heterozygote carriers.Palabras clave
Texto completo:
1
Colección:
01-internacional
Banco de datos:
MEDLINE
Asunto principal:
Esteroide 21-Hidroxilasa
/
Hiperplasia Suprarrenal Congénita
Tipo de estudio:
Etiology_studies
Límite:
Adult
/
Humans
/
Male
País/Región como asunto:
Asia
Idioma:
En
Revista:
J Clin Endocrinol Metab
Año:
2021
Tipo del documento:
Article
País de afiliación:
Israel