MR imaging of the pituitary gland in children and young adults with congenital combined pituitary hormone deficiency associated with PROP1 mutations.
OBJECTIVE
The aim of this study was to clarify the relationship between morphologic changes of the pituitary gland and the genotype of Prophet of Pit-1 (PROP1), a newly discovered gene responsible for congenital combined pituitary hormone deficiency, in a series of eight humans with this disorder.


CONCLUSIONS
Congenital hypoplasia of the anterior pituitary gland is the most common MR imaging finding in patients with combined pituitary hormone deficiency. Our findings suggest a crucial role for PROP1 in pituitary organogenesis as well as anterior pituitary cell differentiation.
Fofanova
O
O
Department of Pediatrics, Endocrinology Research Center, Moscow, Russia.
Takamura
N
N
Kinoshita
E
E
Vorontsov
A
A
Vladimirova
V
V
Dedov
I
I
Peterkova
V
V
Yamashita
S
S
D000293:Adolescent; D000328:Adult; D005260:Female; D018398:Homeodomain Proteins / Q000235:genetics*; D006801:Humans; D008279:Magnetic Resonance Imaging; D008297:Male; D009154:Mutation; D010902:Pituitary Gland / Q000473:pathology*; D010907:Pituitary Hormones / Q000172:deficiency*; D014157:Transcription Factors / Q000235:genetics*
D018398:Homeodomain Proteins; D010907:Pituitary Hormones; C102134:Prophet of Pit-1 protein; D014157:Transcription Factors