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

Naoki Shimo; Tetsuyuki Yasuda; Tetsuhiro Kitamura; Kenji Matsushita; Saeko Osawa; Yuichi Yamamoto; Junji Kozawa; Michio Otsuki; Tohru Funahashi; Akihisa Imagawa; Hideaki Kaneto; Kohji Nishida; Iichiro Shimomura

doi:10.2169/internalmedicine.53.1184

CASE REPORTS

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

Naoki Shimo, Tetsuyuki Yasuda, Tetsuhiro Kitamura, Kenji Matsushita, Saeko Osawa, Yuichi Yamamoto, Junji Kozawa, Michio Otsuki, Tohru Funahashi, Akihisa Imagawa, Hideaki Kaneto, Kohji Nishida, Iichiro Shimomura

Author information

Naoki Shimo
Department of Metabolic Medicine, Osaka University Graduate School of Medicine, Japan
Tetsuyuki Yasuda
Department of Metabolic Medicine, Osaka University Graduate School of Medicine, Japan
Tetsuhiro Kitamura
Department of Metabolic Medicine, Osaka University Graduate School of Medicine, Japan
Kenji Matsushita
Department of Ophthalmology, Osaka University Graduate School of Medicine, Japan
Saeko Osawa
Department of Metabolic Medicine, Osaka University Graduate School of Medicine, Japan
Yuichi Yamamoto
Department of Metabolic Medicine, Osaka University Graduate School of Medicine, Japan
Junji Kozawa
Department of Metabolic Medicine, Osaka University Graduate School of Medicine, Japan
Michio Otsuki
Department of Metabolic Medicine, Osaka University Graduate School of Medicine, Japan
Tohru Funahashi
Department of Metabolic Medicine, Osaka University Graduate School of Medicine, Japan
Akihisa Imagawa
Department of Metabolic Medicine, Osaka University Graduate School of Medicine, Japan
Hideaki Kaneto
Department of Metabolic Medicine, Osaka University Graduate School of Medicine, Japan
Kohji Nishida
Department of Ophthalmology, Osaka University Graduate School of Medicine, Japan
Iichiro Shimomura
Department of Metabolic Medicine, Osaka University Graduate School of Medicine, Japan

Keywords: pituitary, PAX6, mutation

JOURNAL OPEN ACCESS

2014 Volume 53 Issue 1 Pages 39-42

DOI https://doi.org/10.2169/internalmedicine.53.1184

Details

Abstract

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.

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