title: Aniridia with a heterozygous PAX6 mutation in which the pituitary function was partially impaired.
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.
authors.affiliation: Department of Metabolic Medicine, Osaka University Graduate School of Medicine, Japan.
authors.forename: Naoki
authors.initials: N
authors.lastname: Shimo
authors.forename: Tetsuyuki
authors.initials: T
authors.lastname: Yasuda
authors.forename: Tetsuhiro
authors.initials: T
authors.lastname: Kitamura
authors.forename: Kenji
authors.initials: K
authors.lastname: Matsushita
authors.forename: Saeko
authors.initials: S
authors.lastname: Osawa
authors.forename: Yuichi
authors.initials: Y
authors.lastname: Yamamoto
authors.forename: Junji
authors.initials: J
authors.lastname: Kozawa
authors.forename: Michio
authors.initials: M
authors.lastname: Otsuki
authors.forename: Tohru
authors.initials: T
authors.lastname: Funahashi
authors.forename: Akihisa
authors.initials: A
authors.lastname: Imagawa
authors.forename: Hideaki
authors.initials: H
authors.lastname: Kaneto
authors.forename: Kohji
authors.initials: K
authors.lastname: Nishida
authors.forename: Iichiro
authors.initials: I
authors.lastname: Shimomura
mesh_terms: D000328:Adult; D015783:Aniridia / Q000175:diagnosis / Q000235:genetics*; D005136:Eye Proteins / Q000235:genetics*; D005260:Female; D006579:Heterozygote; D018398:Homeodomain Proteins / Q000235:genetics*; D006801:Humans; D007018:Hypopituitarism / Q000175:diagnosis / Q000235:genetics*; D009154:Mutation / Q000235:genetics*; D000071841:PAX6 Transcription Factor; D051761:Paired Box Transcription Factors / Q000235:genetics*; D010865:Pilot Projects; D010902:Pituitary Gland / Q000502:physiology; D012097:Repressor Proteins / Q000235:genetics*
chemical_list: D005136:Eye Proteins; D018398:Homeodomain Proteins; D000071841:PAX6 Transcription Factor; C000605730:PAX6 protein, human; D051761:Paired Box Transcription Factors; D012097:Repressor Proteins