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

• Główni autorzy: Anastasios Serbis (Autor), Vassiliki Regina Tsinopoulou (Autor), Konstantina Mouzaki (Autor), Eleni P. Kotanidou (Autor), Styliani Giza (Autor), Assimina Galli-Tsinopoulou (Autor)
• Format: Książka
• Wydane: Korean Society of Pediatric Endocrinology, 2018-09-01T00:00:00Z.
• Hasła przedmiotowe: article
• Dostęp online: 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...