ESPE Abstracts

Background: The clinical diagnosis of x-linked hypophosphatemic (XLH) rickets is based on a number of biochemical observations. These include a reduction in the percentage of tubular reabsorption of phosphate (%TRP), and in the maximal tubular phosphate reabsorption capacity corrected for glomerular filtration rate (TmP/GFR). However, it is important to maintain sufficient renal blood flow in order to accurately calculate TmP/GFR.Objective: The aims of t...

Background: Nephrogenic diabetes insipidus (NDI) is a disorder characterized by renal resistance to the antidiuretic effect of AVP. Affected patients are exhibiting symptoms as polyuria and polydipsia. Approximately 90% of congenital NDI are inherited in an X-linked recessive manner and caused by mutations of arginine vasopressin type 2 receptor (AVPR2) gene.Objective and hypotheses: An 8-year-old Japanese boy was referred to our hospital for nocturnal e...

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: Haematopoietic stem cell transplantation (HSCT) is a risk factor for young adult onset diabetes mellitus (DM) and hyperlipidaemia (HL) as late effects, especially the use of total-body irradiation (TBI). In order to investigate the clinical details, we retrospectively analysed the post-HSCT patients in our institution that required treatment for DM and/or HL.Results: From 1983 to 2012, 24 children received HSCT in our hospital because of haem...

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...

Background: The most common endocrine cause of growth disorders in childhood is growth hormone deficiency (GHD). The rare monogenic forms of GHD are inherited as autosomal dominant or recessive traits and manifest as isolated deficiency or in combination with other hormone deficiencies. Here, we report on a three-year-old girl with a severe growth retardation (height 77 cm, – 5.6 S.D.S.). She is the only child of non-consanguineous parents from northern Ira...

Introduction: Iodide transport in the thyroid is crucial for thyroid hormone synthesis. A homozygous loss-of-function mutation in the SLC26A4gene coding an iodide transporter located at the apical side in the thyroid follicular cells causes Pendred syndrome accompanied with goitrous congenital hypothyroidism (CH) and sensorineural deafness. However, about half of patients with Pendred syndrome demonstrate normal thyroid function. This indicates anothe...