Long-term follow-up of childhood-onset hypopituitarism in patients with the PROP-1 gene mutation.
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.
Pavel
Marianne E
ME
Division of Endocrinology, Department of Internal Medicine I, University Erlangen-Nürnberg, Germany. marianne.pavel@med1.imed.uni-erlangen.de
Hensen
Johannes
J
Pfäffle
Roland
R
Hahn
Eckhart G
EG
Dörr
Helmuth G
HG
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
D018398:Homeodomain Proteins; D006728:Hormones; C102134:Prophet of Pit-1 protein; D013739:Testosterone; D013006:Growth Hormone; D013974:Thyroxine