ESPE Abstracts

Background: Fibroblast growth factor 21 (FGF21) is one of the FGF superfamily, which regulates energy expenditure, glucose metabolism and lipid metabolism. FGF21 elevates of glucose uptake in peripheral tissues, and regulates body temperature in brown adipose tissue.Objective and hypotheses: This study is to reveal which endocrine diseases in children has elevation of FGF21.Method: We collected blood from 253 endocrine diseases in ...

Background: The overall incidence of Cushing’s syndrome in children is ~0.2–0.5 new cases per million people per year. Cushing’s disease is more infrequent under 7-year-old children. The typical symptoms are not often observed in childhood. Therefore, the early diagnosis is difficult, when pituitary tumour is not detected by pituitary MRI.Objective and hypotheses: A 5-year-old boy was referred to our hospital by a decrease in growth veloci...

Background: Graves’ disease (GD) is most prevalent autoimmune disorder in adult. The annual incidence in adult woman is approximately 0.5 in 1 000, and in adult men is one tenth as common as in women. GD is rare in children, with an annual incidence of 0.8 in 100 000, and with six times more common in girls, thus, GD in boys is very rare. An annual incidence of GD under 10 year-old is extremely rare. Spontaneous transient thyrotoxicosis with pregnancy is sometimes happene...

Objectives: KLF11 is a member of the Sp1/KLF family transcription factor which contains three C2H2 zinc finger domains. To date, two KLF11 mutations (p.T220M and p.A347S) have been identified in three families clinically diagnosed with type 2 diabetes. The aim of our study is to report clinical and molecular characteristics of a KLF11 mutation-carrying family clinically diagnosed with type 1 diabetes (T1D).Methods:...

Background: Vertical transfer of maternal cells to the fetus via the placenta leads to maternal microchimerism (MMc) in children. Previous studies from USA have shown that the prevalence and degree of MMc was significantly higher in patients with type 1 diabetes (T1D) than in their unaffected siblings and control individuals. To date, however, the frequency of MMc in non-Caucasian T1D patients remains to be examined.Methods</stro...