Abstract Search

hrp0097lb3 | Late Breaking | ESPE2023

Congenital Hyperinsulinism due to ABCC8/KCNJ11 mutations and the long-term outcome - a single center experience

Noordin Mazidah , Miyagi Hajime , Igarashi Mizuho , Kashima Takemoto , Fujioka Akiko , Ujita Nagisa , Yoshii Keisuke , Naiki Yasuhiro , Horikawa Reiko

Hyperinsulinism is a common cause of persistent hypoglycemia beyond infancy. Mutations in the ABCC8/KCNJ11 genes are the most common aetiology of congenital hyperinsulinism (CHI), leading to KATP channel mutation. This results in an inappropriate insulin secretion irrespective of hypoglycaemia. This is a cross-sectional study of the patients attending the paediatric endocrinology unit at the National Centre for Child Health & Development (NCCHD), Tokyo, Japan from March 20...

1 shares

hrp0098p3-2 | Adrenals and HPA Axis | ESPE2024

A case of suspected Pigmented primary nodular adrenocortical disease with a Tanner stage inconsistent with testosterone levels

Tanimoto Eri , Nakamura Chizuko , Ishimaru Masanori , Fukui Sadahiro , Miyagi Hajime , Ujita Nagisa , Doi Hibiki , Igarashi Mizuho , Kashima Takemoto , Yoneda Akhiro , Matsubara Keiko , Shima Hirohito , Kannno Jyunko , Yoshii Keisuke , Naiki Yasuhiro , Horikawa Reiko

Background: Adrenal tumour in childhood is relatively rare, and its clinical features are variable depending on hormonal profiles. Pigmented primary nodular adrenocortical disease (PPNAD) and adrenal carcinoma may present with clinical signs of precocious puberty due to increased adrenal androgen secretion in addition to glucocorticoids. [Case] 12-year-old boy. Obesity and short stature were noted on school health check-up a year ago. The endocrinological work...

0 shares

ESPE Abstracts

Congenital Hyperinsulinism due to ABCC8/KCNJ11 mutations and the long-term outcome - a single center experience

A case of suspected Pigmented primary nodular adrenocortical disease with a Tanner stage inconsistent with testosterone levels

BiosciAbstracts