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ey0017.4-3 | Important for clinical practice | ESPEYB17

4.3. IGF2 Mutations

Y Masunaga , T Inoue , K Yamoto , Y Fujisawa , Y Sato , Y Kawashima-Sonoyama , N Morisada , K Iijima , Y Ohata , N Namba , H Suzumura , R Kuribayashi , Y Yamaguchi , H Yoshihashi , M Fukami , H Saitsu , M Kagami , T Ogata

To read the full abstract: J Clin Endocrinol Metab. 2020 Jan 1;105(1):dgz034.Using different genetic approaches, the authors identified 5 novel pathogenic or likely pathogenic IGF2 gene variants in Japanese patients who underwent genetic testing for the variable associations of multiple congenital anomalies such as mental retardation, Silver-Russell syndrome (SRS), disorders of sex development (DSD), ectrodactyly (split hand/foot malfor...

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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 ...

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ESPE Yearbook of Paediatric Endocrinology

4.3. IGF2 Mutations

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

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