ISSN 1662-4009 (online)

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...

ey0015.5-12 | Klotho in the control of osteocyte activity | ESPEYB15

5.12 Klotho expression in osteocytes regulates bone metabolism and controls bone formation

H Komaba , J Kaludjerovic , DZ Hu , K Nagano , K Amano , N Ide , T Sato , MJ Densmore , JI Hanai , H Olauson , T Bellido , TE Larsson , R Baron , B Lanske

To read the full abstract: Kidney Int 2017;92:599-611Klotho was originally identified as a senescence-related protein because mice carrying hypomorphic Klotho alleles (kl/kl) develop premature aging with low bone turnover and osteoporosis. Primary function of Klotho is to form a specific receptor complex with fibroblast growth factor (FGF) receptor 1 (FGFR1) through which it mediates the bio...

ey0021.8-4 | Important for Clinical Practice | ESPEYB21

8.4. Incidence and risk factors for adrenal crisis in pediatric-onset adrenal insufficiency: a prospective study

M Hosokawa , Y Ichihashi , Y Sato , N Shibata , K Nagasaki , K Ikegawa , Y Hasegawa , T Hamajima , F Nagamatsu , S Suzuki , C Numakura , N Amano , G Sasaki , K Nagahara , S Soneda , D Ariyasu , M Maeda , H Kamasaki , K Aso , T Hasegawa , T Ishii

Brief Summary: This study examined the incidence and risk factors for adrenal crisis (AC) in patients with pediatric-onset adrenal insufficiency (AI). AC occurs in a substantial number of children with AI, particularly in younger children due to their high number of infections.Comment: Adrenal crisis (AC) is a life-threatening complication in patients with adrenal insufficiency (AI) (1-4). The clinical features of AC are often nonspecific, and it may be ...