Familial combined pituitary hormone deficiency caused by PROP-1 gene mutation. Growth patterns and MRI studies in untreated subjects.
BACKGROUND
Mutations of the prophet of PIT-1 (PROP-1), a paired-like homeodomain transcription factor which is responsible for early embryonic pituitary development, have recently been reported as a cause of combined pituitary hormone deficiency.


METHODS
We describe the phenotype, long-term auxological data and MRI findings in two families with 4 affected members, all of whom have a mutation of the PROP-1 gene. GH, TSH, PRL, LH and FSH were completely deficient in all patients.


RESULTS
ACTH deficiency was not diagnosed until the 3rd or 4th decades of life. Pituitary MRI showed an empty sella in 2 subjects, but unspecific tissue accumulation resembling a pituitary mass lesion in another patient. The affected boy from family II who was continuously treated with all the necessary hormones reached the familial target height. However, the 3 subjects in family I were only treated sporadically (GH treatment lasting from 1 to 3 years).


CONCLUSIONS
Despite this insufficient therapy, final height was in the lower normal range. Longitudinal growth continued up to the age of 40 years in these subjects.
Crone
J
J
Pediatric Department, University of Vienna, Austria.
Pfäffle
R
R
Stobbe
H
H
Prayer
D
D
Gomez
I
I
Frisch
H
H
D000293:Adolescent; D000328:Adult; D001483:Base Sequence; D002648:Child; D017931:DNA Primers; D005260:Female; D018398:Homeodomain Proteins / Q000235:genetics*; D006801:Humans; D008297:Male; D008875:Middle Aged; D009154:Mutation; D010902:Pituitary Gland / Q000473:pathology; D010907:Pituitary Hormones / Q000172:deficiency*; D014157:Transcription Factors / Q000235:genetics
D017931:DNA Primers; D018398:Homeodomain Proteins; D010907:Pituitary Hormones; C102134:Prophet of Pit-1 protein; D014157:Transcription Factors