Identification of a novel point mutation in gene in a patient with adrenal hypoplasia congenita

• Main Authors: Han Saem Choi (Author), Ahreum Kwon (Author), Hyun Wook Chae (Author), Junghwan Suh (Author), Kyung Chul Song (Author), Jin-Sung Lee (Author), Ho-Seong Kim (Author)
• Format: Book
• Published: Korean Society of Pediatric Endocrinology, 2021-06-01T00:00:00Z.
• Subjects: article
• Online Access: Connect to this object online.

X-linked adrenal hypoplasia congenita caused by a mutation in NR0B1/DAX-1 is a rare inherited disorder. Patients with adrenal hypoplasia congenita are usually diagnosed with primary adrenal insufficiency in infancy or early childhood and present hypogonadotropic hypogonadism during adolescence. Our...