hrp0089p3-p061 | Bone, Growth Plate & Mineral Metabolism P3 | ESPE2018

Incidence Rate of Vitamin D Deficiency in 12-year Old Children in Japan

Koyama Satomi , Naganuma Junko , Kubota Takuo , Ozono Keiichi , Arisaka Osamu , Yoshihara Shigemi

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...

hrp0089p3-p166 | Fat, Metabolism and Obesity P3 | ESPE2018

Assessment of Obesity in Children with Achondroplasia and Hypochondroplasia

Nakano Yukako , Kitaoka Taichi , Takeyari Shinji , Ohata Yasuhisa , Kubota Takuo , Ozono Keiichi

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...

hrp0089p2-p273 | Growth & Syndromes P2 | ESPE2018

Seventeen-year Observation in a Japanese Female Case of Tatton-Brown-Rahman Syndrome: An Overgrowth Syndrome with Intellectual Disability

Miyoshi Yoko , Yamamoto Keiko , Nakano Yukako , Yamamoto Kenichi , Kubota Takuo , Ozono Keiichi

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...

hrp0092p1-168 | Bone, Growth Plate and Mineral Metabolism (1) | ESPE2019

Genotype-Phenotype Characteristics in Four Families of Type II Collagenopathy in Our Hospital

Yamamoto Kenichi , Kubota Takuo , Takeyari Shinji , Nakano Yukako , Nakayama Hirofumi , Fujiwara Makoto , Ohata Yasuhisa , Kitaoka Taichi , Miyoshi Yoko , Ozono Keiichi

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...

hrp0089fc11.3 | Bone, Growth Plate & Mineral Metabolism 2 | ESPE2018

Evidence for Effects of FGF2 Aptamer in an Achondroplasia Mice Model and an In Vitro Chondrocyte Differentiation System Using Patient-Derived iPS Cells

Ozono Keiichi , Yasuda Kie , Kimura Takeshi , Nakano Yukako , Kitabatake Yasuji , Kubota Takuo , Nonaka Yosuke , Fujiwara Masatoshi , Nakamura Yoshikazu

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...

hrp0086p1-p138 | Bone & Mineral Metabolism P1 | ESPE2016

Biochemical Parameters Associated with Serum Intact FGF23 Levels in Patients with X-Linked Hypophosphatemic Rickets

Kubota Takuo , Yamamoto Keiko , Miyata Kei , Takeyari Shinji , Yamamoto Kenichi , Nakayama Hirofumi , Fujiwara Makoto , Kitaoka Taichi , Takakuwa Satoshi , Ozono Keiichi

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 ...

hrp0084p2-578 | Thyroid | ESPE2015

Cryptorchidism is Commonly Observed in Allan Herndon Dudley Syndrome

Namba Noriyuki , Takakuwa Satoshi , Nakayama Hirofumi , Yamamoto Keiko , Fujiwara Makoto , Ohata Yasuhisa , Kitaoka Taichi , Kubota Takuo , Ozono Keiichi

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 ...