オオツキ　ミチオ   Ootsuki Michio   大月　道夫    所属   医学部 医学科（東京女子医科大学病院）    職種   教授・基幹分野長
論文種別	症例報告
言語種別	英語
査読の有無	査読あり
表題	Aniridia with a heterozygous PAX6 mutation in which the pituitary function was partially impaired
掲載誌名	正式名：Internal Medicine 略　 称：Intern Med ISSNコード：09182918
掲載区分	国内
巻・号・頁	53(1),pp.39-42
著者・共著者	Shimo, N. Yasuda, T. Kitamura, T. Matsushita, K. Osawa, S. Yamamoto, Y. Kozawa, J. Otsuki, M. Funahashi, T. Imagawa, A. Kaneto, H. Nishida, K. Shimomura, I.
発行年月	2014
概要	We herein report the case of a woman with aniridia and with a heterozygous PAX6 mutation. Pax6 is a transcription factor involved in the development of several organs, including the eye, pancreas and pituitary. The patient had been diagnosed with aniridia in childhood and was found to have impaired glucose tolerance with a heterozygous PAX6 mutation 12 years prior to the current admission. Hormone stimulating tests revealed a slightly impaired pituitary function, including subtle hypogonadotropic hypogonadism and borderline growth hormone (GH) deficiency. The present case is the first report of a slightly impaired pituitary function in an aniridia patient with a heterozygous PAX6 mutation.
DOI	10.2169/internalmedicine.53.1184
文献番号	24390526