Genetics of Primary Adrenal Insufficiency Beyond CAH in Saudi Arabian Population.

ABSTRACT:

Background

The use of exome sequencing (ES) has helped in detecting many variants and genes that cause primary adrenal insufficiency (PAI). The diagnosis of PAI is difficult and can be life-threatening if not treated urgently. Consanguinity can impact the detection of recessively inherited genes. Here, we report families with PAI in a consanguineous population of Saudi Arabia.

Materials and methods

A cohort of 47 PAI patients (41 males and six females) representing 30 families was recruited. The cohort excluded congenital adrenal hyperplasia (CAH) cases and had a known consanguinity of 70%. Using ES, molecular genetic causes of PAI were investigated.

Results

In 30 unrelated families with PAI, pathogenic/likely pathogenic variants were detected in 27 families with a di

SUBMITTER: Al-Hamed MH 

PROVIDER: S-EPMC11757666 | biostudies-literature | 2025 Jan

REPOSITORIES: biostudies-literature