ESPE Abstracts

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...

Introduction: 21-hydroxilase deficiency (21OHD) is the most common form of congenital adrenal hyperplasia. Mutations of CYP21A2 induces 21OHD, a rare autosomal recessive manner. CHARGE syndrome (CS) is a rare autosomal dominant manner that is typically caused by heterozygous chromodomain helicase DNA binding protein-7 (CHD7) mutations. Here, we report the combination cases with genetically diagnosing 21OHD and CS at the first time.Case:...

Introduction: Polydipsia and polyuria are one of the common chief complaints in the field of pediatric endocrinology. The differential diagnosis of polydipsia and polyuria are various diseases including diabetes mellitus (DM), central diabetes insipidus (CDI), and primary polydipsia (PP). Although DM is not difficult to diagnose, between DI and PP is sometimes difficult.Aim: The objective of our study is to reveal the in...

Background: Maternal uniparental disomy of chromosome 16 (UPD(16)mat) is defined as the presence of two homologous chromosomes 16 inherited from only the mother. To our knowledge, 49 live-born UPD(16)mat patients without chromosomal abnormalities other than that in chromosome 16 have been reported. UPD(16)mat patients presented with non-specific clinical features such as preterm birth, growth retardation, congenital heart diseases (CHDs) and hypospadias. Silver-Russell syndrom...