ISSN 1662-4009 (online)

Previous issue | Volume 21 | ESPEYB21

Yearbook of Paediatric Endocrinology 2024

8. Adrenals

New Genes

ey0021.8-16 | New Genes | ESPEYB21

8.16. Single-exon deletions of ZNRF3 exon 2 cause congenital adrenal hypoplasia

N Amano , S Narumi , K Aizu , M Miyazawa , K Okamura , H Ohashi , N Katsumata , T Ishii , T Hasegawa

Brief Summary: This study identifies a novel cause for congenital adrenal hypoplasia and provides evidence that Wnt/β-catenin signaling plays an important role in the development of human adrenal cortex.Comment: Primary adrenal insufficiency (PAI) is a life-threatening condition characterized by the inability of the adrenal cortex to produce sufficient glucocorticoids and/or mineralocorticoids. The major cause of childhood-onset PAI is congenital ad...