MRI findings and genotype analysis in patients with childhood onset growth hormone deficiency--correlation with severity of hypopituitarism.
OBJECTIVE
To evaluate the relationship between pituitary size, PIT1 and PROP1 genotype, and the severity of childhood onset growth hormone deficiency (coGHD).


METHODS
Forty-four patients with coGHD (34 M; 9.7 +/- 4.1 years): severe isolated (SI) GHD (n = 14); partial isolated (PI) GHD (n=13); multiple pituitary hormone deficiencies (MPHD) (n=17).


RESULTS
Pituitary abnormalities were found in 7/14 patients with SIGHD (50%), 16/17 patients with MPHD (94.1%), and no patient with PIGHD. Mean pituitary height (PHT SDS) was significantly lower in MPHD than in SIGHD and PIGHD. Pituitary height SDS and pituitary volume (PV) SDS correlated with IGF-I SDS and stimulated GH peaks in the SIGHD and MPHD groups. No PIT1 mutation was identified. The PROP1 AG deletion (301-302) was present in five related patients with MPHD and more severe phenotype than the other patients with MPHD.


CONCLUSIONS
Pituitary abnormalities corresponded to the severity of coGHD. Genetic alterations were identified in five related patients with MPHD.
Zimmermann
Anca
A
1st Clinic of Internal Medicine, Department of Endocrinology and Diabetology, Johannes Gutenberg University of Mainz, Germany. zimmeran@uni-mainz.de
Schenk
Jens-Peter
JP
Grigorescu Sido
Paula
P
Pfaffle
Roland
R
Lazea
Cecilia
C
Zimmermann
Tim
T
Heinrich
Udo
U
Weber
Matthias M
MM
Bettendorf
Markus
M
D000293:Adolescent; D000365:Age Determination by Skeleton; D017668:Age of Onset; D001827:Body Height / Q000235:genetics; D002648:Child; D002675:Child, Preschool; D018450:Disease Progression; D004393:Dwarfism, Pituitary / Q000150:complications / Q000000981:diagnostic imaging* / Q000453:epidemiology / Q000235:genetics*; D005260:Female; D005838:Genotype; D018398:Homeodomain Proteins / Q000235:genetics; D006801:Humans; D007018:Hypopituitarism / Q000000981:diagnostic imaging / Q000209:etiology / Q000473:pathology*; D008279:Magnetic Resonance Imaging; D008297:Male; D010902:Pituitary Gland / Q000033:anatomy & histology / Q000000981:diagnostic imaging; D012189:Retrospective Studies; D050817:Transcription Factor Pit-1 / Q000235:genetics
D018398:Homeodomain Proteins; C494187:POU1F1 protein, human; C102134:Prophet of Pit-1 protein; D050817:Transcription Factor Pit-1