Article
Genetic defects in pediatric-onset adrenal insufficiency in Japan.
European journal of endocrinology - 1 Aug 2017
Amano Naoko, Narumi Satoshi, Hayashi Mie, Takagi Masaki, Imai Kazuhide, Nakamura Toshiro, Hachiya Rumi, Sasaki Goro, Homma Keiko, Ishii Tomohiro, Hasegawa Tomonobu
Abstract excerpt
CONTEXT: Most patients with pediatric-onset primary adrenal insufficiency (PAI), such as 21-hydroxylase deficiency, can be diagnosed by measuring the urine or serum levels of steroid metabolites. However, the etiology is often difficult to determine in a subset of patients lacking characteristic biochemical findings. OBJECTIVE: To assess the frequency of genetic defects in Japanese children with biochemically...
Topics
- Addison Disease
- Adolescent
- Adrenal Insufficiency
- Child
- Child, Preschool
- Female
- Gene Deletion
- Genetic Association Studies
- Humans
- Infant
- Japan