ESPE Abstracts

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: Temple syndrome (TS14) caused by maternal uniparental disomy chromosome 14 (UPD(14)mat), paternal deletions and the imprinting defect affecting the 14q32.2 imprinted region is associated with non-specific symptoms such as growth failure, precocious puberty, obesity, and diabetes mellitus (DM). Some TS14 cases are misdiagnosed as having Prader–Willi syndrome (PWS). In TS14, patient’s intelligence quotient (IQ) is usually normal, and autism spectrum disor...

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...