Genetic aetiology of primary adrenal insufficiency in Chinese children.

ABSTRACT:

Background

Primary adrenal insufficiency (PAI) is life-threatening, and a definitive aetiological diagnosis is essential for management and prognostication. We conducted this study to investigate the genetic aetiologies of PAI in South China and explore their clinical features.

Methods

Seventy children were enrolled in this cross-sectional study. Clinical information was collected, and combined genetic tests were performed according to the children's manifestations. Statistical analysis was performed among the different groups. In silico or in vitro experiments were applied to determine the pathogenicity of novel variants.

Results

Among the 70 children, 84.3% (59/70) were diagnosed with congenital adrenal hyperplasia (CAH), and 21-hydroxylase deficiency (21-OHD) was g

SUBMITTER: Chang Z 

PROVIDER: S-EPMC8243448 | biostudies-literature | 2021 Jun

REPOSITORIES: biostudies-literature