hrp0086p1-p885 | Thyroid P1 | ESPE2016

Elevation of Serum Fibroblast Growth Factor 21 in Congenital Hypothyroidism

Yatsuga Shuichi , Sasaki Takako , Ushijima Kikumi , Kitamura Miyuki , Kota Yasutoshi

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 ...

hrp0082p3-d2-971 | Sex Development (1) | ESPE2014

A Case of 46,Y,dup(x)(p21.2p22.2) DSD Caused by Overexpressed DAX1

Takako Sasaki , Youko Izumi , Maki Fukami , Shuichi Yatsuga , Yasutoshi Koga

Introduction: DAX1 (dosage-sensitive sex reversal, adrenal hypoplasia critical region, on chromosome X, gene 1) plays an important role in developing the adrenal gland and testis during embryonic stage. On the other hand, overexpressed DAX1 causes 46,XY disorders of sex development (DSD), in which patients often have short stature, mental retardation, and telecanthus. Here we report a case of 46,Y,dup(X)(p21.2p22.2) DSD caused by overexpressed DAX1.Case ...

hrp0084p3-1123 | Pituitary | ESPE2015

A 5-Year-Old Patient with Cushing’s Disease

Ushijima Kikumi , Sasaki Takako , Yatsuga Syuichi , Yasutoshi Koga

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...

hrp0084p3-1227 | Thyroid | ESPE2015

A 7 Month-Old Male Infant with Spontaneous Transient Graves’ Thyrotoxicosis

Yatsuga Shuichi , Sasaki Takako , Ushijima Kikumi , Nishioka Junko , Koga Yasutoshi

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...

hrp0086rfc15.2 | Late Breaking | ESPE2016

NR0B1 Frameshift Mutation in a Boy with Precocious Puberty and Normal Adrenal Function

Shima Hirohito , Yatsuga Shuichi , Nakamura Akie , Sano Shinichiro , Sasaki Takako , Katsumata Noriyuki , Suzuki Erina , Ogata Tsutomu , Fukami Maki

Background: While hemizygous NR0B1 (DAX1) mutations usually lead to adrenal crisis during infancy or early childhood, p.Gln37*, p.Trp39*, and some other mutations result in late-onset or latent adrenal insufficiency. A small percentage of boys with NR0B1 mutations develops precocious puberty in addition to adrenal insufficiency.Objective and hypotheses: To report a boy with an NR0B1 mutation who exhibited central precocious puberty without adren...