ESPE Abstracts

Back ground: The incidence rate of vitamin D deficiency is increasing throughout the world in recent years, but the rate of vitamin D deficiency in Japan is unknown.Aims: We measured the incidence rate of vitamin D deficiency in 12-year old children in Japan.Methods: A total of 492 children (247 boys and 245 girls) from one Japanese community enrolled in this study. At age 12, 25 hydroxyvitamin D (25OHD) were measured in all childr...

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...

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...

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...

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: 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: 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 ...

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...

X-linked hypophosphatemia (XLH) is characterized by excess FGF 23, hypophosphatemia, skeletal deformities, and growth impairment. Due to the lack of large-scale and long-term observational studies, not enough evidence has been accumulated to gain consensus on optimal care. A longitudinal, observational cohort study (SUNFLOWER) was initiated in Japan and South Korea to clarify the course of XLH; delineate its physical, mental, and financial burdens; and collect information on t...