ESPE Abstracts

Achondroplasia (Ach) is a skeletal disorder caused by gain-of-function mutations of FGFR3. Ach patients suffer from various complications such as short stature, foramen magnum stenosis and sleep apnea. Disease-specific treatment is not available at present, although some drugs including a C-type natriuretic peptide analogue have been developed. The mutated FGFR3, G380R, has an elevated activity of the receptor-associated tyrosine kinase, but G380R is further activated...

Background: Appropriate management for hyperglycemia is essential in preterm infants, because hyperglycemia increase the risk for intracranial hemorrhage, sepsis, retinopathy of prematurity, impairing long outcome to mortality and morbidity. In general, transient neonatal hyperglycemia is frequently observed during glucose infusion therapy, and it may not require interventions other than reducing glucose infusion. On the other hand, extremely preterm infants (EPIs GA <28 w...

Background: As a curative therapy, haematopoietic stem cells transplantation (HSCT) has been also used for patients with non-neoplastic diseases such as aplastic anemia, primary immunodeficiency, and some congenital metabolic diseases. For these diseases, the intensity of the conditioning has been reduced comparing to that of malignancy diseases. Therefore, late effects of HSCT for non-neoplastic diseases has been expected to be milder than that for neoplastic diseases, howeve...

Introduction: The Sonic hedgehog (SHH) signaling pathway plays a crucial role in development of the forebrain and pituitary. Mutations in SHH signaling related genes are well known to be the cause of Holoprosencephaly (HPE), which results from developmental field defect or impaired midline cleavage of the embryonic forebrain, and is frequently associated with hypopituitarism. This study aimed to define the prevalence of congenital hypopituitarism (CH) in terms...

Introduction: Wolfram syndrome (WS) is a rare progressive neurodegenerative disease that shows autosomal recessive inheritance characterized by diabetes insipidus, diabetes mellitus (DM), optic nerve atrophy and deafness. WFS1 gene encoding a protein, wolframin, which is essential to the function of the endoplasmic reticulum, is identified as main causative gene of the disease. We report here a sibling case suspected WS with insulin-dependent DM and optic atrophy in early chil...

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: 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...

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...

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: Adrenal hypoplasia congenita (AHC) is a rare disorder with an estimated frequency of 1 case per 12,500 live births. AHC causes 46,XY disorders in sex development (DSD) due to adrenal androgen deficiency.Objective: Case report ona male AHC patient with no external genitalia abnormalities.Case report: The baby was born at 37 weeks'gestation with a height of 46.5 cm (-...