Michio Otsuki    Department   School of Medicine(Tokyo Women's Medical University Hospital), School of Medicine    Position   Professor and Division head
Article types	Case report
Language	English
Peer review	Peer reviewed
Title	Aniridia with a heterozygous PAX6 mutation in which the pituitary function was partially impaired
Journal	Formal name：Internal Medicine Abbreviation：Intern Med ISSN code：09182918
Domestic / Foregin	Domestic
Volume, Issue, Page	53(1),pp.39-42
Author and coauthor	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.
Publication date	2014
Summary	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
Document No.	24390526