ESPE Abstracts

Introduction: Obesity is one of common complications in achondroplasia (ACH) and hypochondroplasia (HCH). Obesity can be a risk factor for excessive load on joints or lower spines in aged, worsen sleep apnea and develop a metabolic syndrome. Thus, it is critical to maintain their proper weight from early childhood. ACH specific growth charts and BMI has been used to evaluate their overweight and obesity. Due to disproportional short stature, the assessment by BMI could lead an...

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: Allan-Herndon-Dudley syndrome (AHDS) is an x-linked mental retardation syndrome characterized by severe psychomotor retardation and pathognomonic thyroid parameters. Defects in monocarboxylate transporter 8 (MCT8), which facilitates thyroid hormone (TH) uptake and efflux across plasma membranes, have been linked to this disease. The incidence of undescended testes was reported to be 8% by Schwartz et al. On the other hand, we had the impression that cryptorchidism ...

Growth hormone deficiency (GHD) in children results in reduced adult height. Children with GHD typically require daily subcutaneous (s.c.) injections of growth hormone (GH). Daily injections are burdensome for both patients and their caregivers and reduced adherence negatively impacts clinical outcomes. Somapacitan (Novo Nordisk) is a long-acting reversible albumin-binding human GH derivative in development for once-weekly s.c. administration in children with GHD, aiming to ov...

Germline copy number variations (CNVs) can lead to rare diseases. Despite the widespread use of whole exome sequencing (WES), array comparative genomic hybridization (aCGH) and multiplex ligation-dependent probe amplification (MLPA) remain the first-line methods for detecting CNVs in clinical genetics due to technical biases in WES. Recently, a new pipeline (GATK-gCNV) has been developed to account for these biases, allowing for the detection of high-resolution CNVs from WES d...

Object: IGF2 is a paternally expressed gene involved in the development of Silver-Russell syndrome (SRS). Here, we report six Japanese patients with IGF2 mutations and compare clinical findings between patients with IGF2 mutations including literature cases and those with H19/IGF2:IG-DMR epimutations.Patients: We recruited six Japanese patients with IGF2 mutations. Th...