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

• 主要な著者: Anastasios Serbis (著者), Vassiliki Regina Tsinopoulou (著者), Konstantina Mouzaki (著者), Eleni P. Kotanidou (著者), Styliani Giza (著者), Assimina Galli-Tsinopoulou (著者)
• フォーマット: 図書
• 出版事項: Korean Society of Pediatric Endocrinology, 2018-09-01T00:00:00Z.
• 主題: article
• オンライン･アクセス: 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...