Clinical Pediatric Endocrinology
Online ISSN : 1347-7358
Print ISSN : 0918-5739
ISSN-L : 0918-5739
Volume 22, Issue 3
July
Displaying 1-2 of 2 articles from this issue
Original Article
  • Hotaka Kamasaki, Takako Takeuchi, Takeshi Mikami, Katsuhide Komeichi, ...
    2013 Volume 22 Issue 3 Pages 39-44
    Published: 2013
    Released on J-STAGE: August 01, 2013
    JOURNAL FREE ACCESS
    A 14-year-old boy was admitted to our hospital after being diagnosed at a local clinic with bilateral carotid artery stenoses (Moyamoya disease) and mild thyrotoxicosis. A blood examination showed suppressed TSH and elevated triiodothyronine and thyroxine levels; however, he was negative for anti-thyrotropin receptor antibody (TRAB) and thyroid stimulating antibody (TSAB). Concern about a possible thyroid crisis led us to administer thiamazole (MMI) and potassium iodide (KI), following which encephalo-duro-arterio-synangiosis (EDAS) of the left side was performed successfully. After about 1 mo, he became positive for TRAB and TSAB. He was thought to have Graves’ disease and Moyamoya disease coincidentally. Several factors are considered to be involved in the coincidental onset of these two diseases.
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Case Report
  • Takeshi Sato, Koji Muroya, Junko Hanakawa, Yumi Asakura, Eihiko Takaha ...
    2013 Volume 22 Issue 3 Pages 45-51
    Published: 2013
    Released on J-STAGE: August 01, 2013
    JOURNAL FREE ACCESS
    Renal coloboma syndrome is an autosomal dominant condition characterized by renal lesions and optic nerve abnormalities. We report an 11-yr-old Japanese girl with familial renal coloboma syndrome, who also had Graves’ disease. Four affected family members had a previously reported heterozygous mutation (c.76dupG, p.Val26Glyfs*28) in the PAX2 gene. We hypothesized that PAX2 mutations may increase the risk of autoimmune diseases through alterations of human β-defensin 1 expression.
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