Endocrine journal
Congenital adrenal hypoplasia with neurodevelopmental delay due to contiguous Xp21 deletion: a case series with review of literature.
Maki Gau, Ryosei Iemura, Ryuta Orimoto, Eriko Adachi, Yoko Saito, Haruki Yamano, Hisae Nakatani, Shizuka Kirino, Haruka Kuno, Kengo Moriyama, Yohei Yamaguchi, Yoshiki Oitani, Manabu Sugie, Tomoko Mizuno, Taku Ishii
Published: 202510.1507/endocrj.EJ25-0265
Abstract
X-linked adrenal hypoplasia congenita (AHC) is a rare, life-threatening disorder caused by pathogenic variants in NR0B1 (DAX1), leading to adrenal insufficiency and hypogonadotropic hypogonadism. AHC is often associated with Xp21 contiguous gene dele…
Preview only. Read the full abstract at the source