Aniridia with a Heterozygous PAX6 Mutation in which the Pituitary Function was Partially Impaired

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概要

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• 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.

• 社団法人 日本内科学会の論文

著者

• Kozawa Junji

  Department Of Internal Medicine And Molecular Science Graduate School Of Medicine Osaka University

• Shimomura Iichiro

  Department Of Internal Medicine And Molecular Science Graduate School Of Medicine Osaka University

• Matsushita Kenji

  Department Of Electrical Engineering Faculty Of Engineering Osaka City University

• Nishida Kohji

  Department Of Communications And Systems. The University Of Electro-communications

• Imagawa Akihisa

  Department Of Internal Medicine And Molecular Science Graduate School Of Medicine Osaka University

• Otsuki Michio

  Department Of Medicine Osaka University Graduate School Of Medicine

• Kaneto Hideaki

  Department Of Biochemistry Osaka University Medical School

• Yamamoto Yuichi

  Department Of Bioengineering And Robotics Tohoku University

• Funahashi Tohru

  Department Of Cardiovascular Surgery National Cerebral And Cardiovascular Center

• Kitamura Tetsuhiro

  Department Of Medicine Nissay Hospital

• Yasuda Tetsuyuki

  Department Of Internal Medicine And Therapeutics Osaka University Graduate School Of Medicine

• Funahashi Tohru

  Department of Metabolic Medicine, Osaka University Graduate School of Medicine, Japan

• Shimo Naoki

  Department of Metabolic Medicine, Osaka University Graduate School of Medicine, Japan

• Osawa Saeko

  Department of Metabolic Medicine, Osaka University Graduate School of Medicine, Japan

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