title: Long-term follow-up of childhood-onset hypopituitarism in patients with the PROP-1 gene mutation.
abstract: OBJECTIVE
  The PROP-1 gene mutation is a rare disorder leading to combined pituitary hormone deficiencies over time. The aim was to analyze the clinical picture of 40 years of an almost untreated PROP-1 gene mutation.
  
  
  METHODS
  We describe the clinical and hormonal data of 2 brothers from childhood to adulthood as well as imaging procedures (MRI of the pituitary gland, bone mineral density by QCT and DPX). The PROP-1 gene mutation (301-302delAG) was confirmed by DNA sequencing.
  
  
  RESULTS
  Although long-standing untreated hypopituitarism was present, there was normal physical and professional activity. Bone mineral density was low only in 1 patient. Adrenocortical deficiency occurred late at 45 and 39 years.
  
  
  CONCLUSIONS
  The biological evolution of the PROP-1 gene mutation illustrates the importance of continuous care for these patients. Hormonal deficiencies do not necessarily lead to the same phenotype as is obvious in differences of bone age and bone mineral density.
authors.affiliation: Division of Endocrinology, Department of Internal Medicine I, University Erlangen-Nürnberg, Germany. marianne.pavel@med1.imed.uni-erlangen.de
authors.forename: Marianne E
authors.initials: ME
authors.lastname: Pavel
authors.forename: Johannes
authors.initials: J
authors.lastname: Hensen
authors.forename: Roland
authors.initials: R
authors.lastname: Pfäffle
authors.forename: Eckhart G
authors.initials: EG
authors.lastname: Hahn
authors.forename: Helmuth G
authors.initials: HG
authors.lastname: Dörr
mesh_terms: D000293:Adolescent; D017668:Age of Onset; D001827:Body Height / Q000187:drug effects; D015519:Bone Density / Q000187:drug effects; D002648:Child; D018450:Disease Progression; D005500:Follow-Up Studies; D013006:Growth Hormone / Q000627:therapeutic use; D018398:Homeodomain Proteins / Q000235:genetics*; D006728:Hormones / Q000097:blood; D006801:Humans; D007018:Hypopituitarism / Q000188:drug therapy / Q000453:epidemiology* / Q000235:genetics* / Q000378:metabolism; D008297:Male; D009154:Mutation; D013739:Testosterone / Q000627:therapeutic use; D013974:Thyroxine / Q000627:therapeutic use
chemical_list: D018398:Homeodomain Proteins; D006728:Hormones; C102134:Prophet of Pit-1 protein; D013739:Testosterone; D013006:Growth Hormone; D013974:Thyroxine