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...

Case presentation: A 2-year-boy was referred tour hospital for the rickets. He was the first son between non-consanguineous parents and fed with breast milk. But after weaning, he was avoided from taking egg, dairy products including cow’s milk. He was also suffered from developmental delay and had strong food preference. He could take only two kinds of foods, steamed rice and soy bean product, tofu. X-ray findings showed typical rachitic change on long bone metaphysis. L...

Background: Late preterm birth (defined as infants born between 34 and 36 weeks of gestational age) is increasing worldwide. Their postnatal growth has not been fully investigated.Objective and hypotheses: To identify the characteristics of postnatal growth and biochemical markers in late preterm infants.Method: Among 2014 children in the birth cohort study conducted from 2010, 51 children were born late preterm with birth weight a...

In a randomized open-label phase 3 trial in 62 children (1–12 years) with X-linked hypophosphatemia (XLH) (NCT 02915705), switching from conventional therapy (oral phosphate plus active vitamin D) to burosumab, a monoclonal antibody targeting fibroblast growth factor 23, significantly improved serum phosphate concentration, rickets, lower-extremity deformities, growth, mobility, and patient-reported outcomes (PROs) at 64 weeks. Children in Europe, USA, Canada, and Australia wh...

Background: The thyroid dysfunction is one of the frequently seen complications after bone marrow transplantation (BMT). Although hypothyroidism is the most common thyroid disease after BMT, hyperthyroidism is a rare condition. Herein, we report a series of 2 patients who were euthyroid before BMT but developed hyperthyroidism after transplantation.Objective: Case reports and the frequency of hyperthyroidism after BMT in our institute. Case 1:</s...

Introduction: McCune-Albright syndrome (MAS) is caused by somatic mosaic mutations in the GNAS gene. Detection of the GNAS mutations is usually difficult because of the low frequency mosaicism. Droplet digital polymerase chain reaction (ddPCR) is a new technology that enables to measure absolute quantities of target nucleic acids in a sample by counting nucleic acid molecules encapsulated in discrete water-in-oil droplet partitions.<p cla...

Background: Noonan syndrome (NS) is an autosomal dominant disorder characterized by a short stature, congenital heart defects, and characteristic facial features. Gain-of-function mutations of multiple genes in the Ras/mitogen activated protein kinase pathway have been identified in 70–80% of patients with NS. Recently, leucine-zipper-like transcription regulator 1 (LZTR1), which has not previously been associated with the pathway, was reported as a new causative...

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: Although thiamazole (MMI) is the first-line treatment for non-pregnant women with Graves’ disease, the teratogenic effects of this drug have been confirmed. Surgical anomalies known as ‘major MMI-related anomalies’ include omphalomesenteric duct remnants. This is a common difficulty when attempting to clarify whether there is any association between infrequent surgical anomalies and MMI exposure using data derived from women with Graves’ disease...

Background: Idiopathic hypogonadotropic hypogonadism (IHH) is a congenital heterogeneous disorder characterized by a deficiency of gonadotropin-releasing hormone. IHH can be categorised as IHH with anosmia/hyposmia (Kallmann syndrome: KS) or as normosmic (n)IHH. More than 25 genes have been identified in IHH. Nevertheless, patients with IHH are genetically diagnosed in only less than 50%.Objective: The objective of this study is to confirm the applicatio...