Testicular microlithiasis in a boy with X-linked adrenal hypoplasia congenita

• Main Authors: Anastasios Serbis (Author), Vassiliki Regina Tsinopoulou (Author), Konstantina Mouzaki (Author), Eleni P. Kotanidou (Author), Styliani Giza (Author), Assimina Galli-Tsinopoulou (Author)
• Format: Book
• Published: Korean Society of Pediatric Endocrinology, 2018-09-01T00:00:00Z.
• Subjects: article
• Online Access: Connect to this object online.

X-linked adrenal hypoplasia congenita (AHC) is a rare disorder that usually presents clinically as adrenal insufficiency in early infancy. It is caused by mutations in the NR0B1 gene which is located on the short arm of chromosome X (Xp21). The NR0B1 gene plays an important role in normal developmen...