title: Pituitary function and glucose tolerance in a family with a PAX6 mutation.
abstract: BACKGROUND
  PAX6 is a transcription factor involved in the regulation of eye and islet cell development in humans and has also been shown to be an early marker of the pituitary gland in mice. While some subjects with PAX6 mutations were found to have impaired glucose tolerance or diabetes in two previous studies, there has been no report of systematic pituitary function assessment in these patients.
  
  
  OBJECTIVE
  The objective of this report was to assess pituitary function and glucose tolerance in five related patients with a heterozygous PAX6 mutation and an unusual ocular and neurological phenotype.
  
  
  METHODS
  Pituitary function (static and dynamic exploration of the five ante-pituitary axes) and glucose tolerance (oral glucose tolerance test) were explored in all patients.
  
  
  RESULTS
  Glucose tolerance was normal in all patients. We found no obvious pituitary deficiency in four of the five patients. However, borderline cortisol levels were observed in three out of these patients, with subnormal values, at baseline and/or after stimulation test. Basal and stimulated cortisol levels were both more clearly diminished in one subject.
  
  
  CONCLUSIONS
  We report here the first complete pituitary function assessment, together with glucose tolerance evaluations, in five related patients with a PAX6 mutation. We cannot rule out subtle corticotrope deficiency induced by PAX6 mutation. The conflicting results with the literature about glucose tolerance could be explained by genotype/phenotype correlations.
authors.affiliation: Department of Endocrinology-Metabolism and Diabetology-Nutrition, Jean Minjoz Hospital, EA 3920, University of Franche-Comté, boulevard Fleming, 25030 Besançon cedex, France.
authors.forename: Lucie
authors.initials: L
authors.lastname: Hergott-Faure
authors.forename: Sophie
authors.initials: S
authors.lastname: Borot
authors.forename: Colette
authors.initials: C
authors.lastname: Kleinclauss
authors.forename: Marc
authors.initials: M
authors.lastname: Abitbol
authors.forename: Alfred
authors.initials: A
authors.lastname: Penfornis
mesh_terms: D000293:Adolescent; D000328:Adult; D002648:Child; D005136:Eye Proteins / Q000235:genetics*; D005190:Family; D005260:Female; D018149:Glucose Intolerance / Q000235:genetics*; D005951:Glucose Tolerance Test; D018398:Homeodomain Proteins / Q000235:genetics*; D006801:Humans; D008297:Male; D008875:Middle Aged; D009154:Mutation / Q000502:physiology; D000071841:PAX6 Transcription Factor; D051761:Paired Box Transcription Factors / Q000235:genetics*; D010375:Pedigree; 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; C000605732:Pax6 protein, mouse; D012097:Repressor Proteins