ESPE Abstracts

Background: Patients with homozygous and compound heterozygous familial hypercholesterolemia (FH) have markedly elevated plasma LDL cholesterol (LDL-C) from birth. If untreated, patients develop cardiovascular atherosclerosis resulting in death before the second decade of life. Medication and apheresis are only partially effective in reducing LDL-C levels, and do not significantly improve the prognosis. Liver transplantation (LT) can nearly normalize the cholesterol metabolism...

Background: The standard pharmacological treatment strategy of thyroid storm according to 2016 Japan Society of Pediatric Endocrinology Guideline. Although thiamazole (MMI) is recommended be used as the first choice in Graves’ disease, the effect of propylthiouracil (PTU) to block the conversion from T4 to T3 in peripheral tissues encourages clinicians to use against thyroid storm in its very early phase, and switch to MMI later. Nevertheless, the optimal timing of the sw...

Background: Advances in genetic analysis techniques has greatly contributed to recent discovery of causative genes associated with overgrowth with intellectual disability (OGID). Tatton-Brown-Rahman syndrome (TBRS) (OMIM #615879) was one of them, characterized by tall stature, a distinctive facial appearance, and intellectual disability. This syndrome was first reported in 2014. Thus, long-term clinical courses are unknown. We present our Japanese case with OGID who was diagno...

Background: Fibroblast growth factor 23 (FGF23) decreases renal phosphate reabsorption and serum 1,25-dihydroxyvitamin D [1,25(OH)2D] levels. X-linked hypophosphatemic rickets (XLH) is caused by mutations in the PHEX gene and accompanied by decreased serum inorganic phosphate (IP) and elevated serum FGF23 levels. Patients with XLH are generally treated with oral active vitamin D and phosphate, but some previous reports indicated that serum FGF23 levels increased with ...

Background: Achondroplasia is the most common form of human short-limbed dwarfism. The most serious complication in individuals with achondroplasia is narrowing of foramen magnum (FM) that results in cervicomedullary compression and sudden infant death. To avoid sudden infant death, early monitoring and implementation of the necessary medical intervention are important. However, the optimal method of screening for cervicomedullary compression continues to be debated.<p cla...

Background: Hashimoto thyroiditis (HT) is characterized by autoimmune-mediated destruction of the thyroid gland. Ca metabolism disturbance due to hypoparathyroidism among HT patients remains to be clarified.Objective: To clarify the relationship between HT and primary hypoparathyroidism.Patients and Methods: Serum levels of Ca, albumin, and whole PTH (wPTH, ECLIA) were measured in ...

Background: Septo-optic dysplasia (SOD) is a rare disorder characterized by optic nerve hypoplasia, anterior midline abnormality and pituitary hormone deficiency. Mutations of several genes are known to cause SOD related condition, such as HESX1, SOX2, SOX3, and OTX2, but mutations of WDR11 has not been reported in SOD.Objective: Reporting the first SOD patient identified a mutation in WDR11.<p cl...

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...

Loss of methylation (LOM) at GNAS-A/B:TSS-differentially methylated regions (DMRs) in the GNAS locus is observed in pseudohypoparathyroidism type 1B (PHP1B). Many PHP1B cases are sporadic, but autosomal dominant-PHP1B has a deletion involving NESP55 expressed from the maternal allele or STX16 located upstream of the GNAS locus on the maternal allele. We report the possible first familial PHP1B cases with retrotransposon insertion in the GNAS locus on the maternal allele. To ou...

Type II collagenopathy is a generic name of the skeletal dysplasia caused by COL2A1 gene, such as achondrogenesis type II, spondyloepiphyseal dysplasia (SEDC), spondyloepimetaphyseal dysplasia (SEMD). Since this is a rare disease, genotype-phenotype characteristics is still unclear. Here, we describe the genotype-phenotype characteristics of four families of type II collagenopathy in our hospital. Family 1: the proband was 2-year-old girl. She showed severe short stat...