Background: In pediatric patients multiple pituitary hormone deficiency (MPHD) can be caused by mutations in pituitary-specific transcription factors. Among those, mutations in PROP1 gene account for ~50% of genetically determined cases of CPHD. Regarding morphology, the anterior pituitary can be normal, hypo-/aplastic or enlarged.
Results: We present two unrelated patients referred for evaluation of growth retardation. Both had profound growth retardation at the age of 5.6 and 4.1 years, accompanied by significant retardation of bone age. They had insufficient GH response to provocation tests. Their initial MRI scan revealed enlarged anterior pituitary. GH therapy was instituted, along with L-thyroxine substitution due to secondary hypothyroidism. Basal prolactin levels diminished with time. Both children required sex steroid substitution for secondary hypogonadism and so far had no overt symptoms of adrenal insufficiency. Control MRI detected hypoplastic/normal anterior pituitary.
Conclusion: Clinical presentation, results of endocrine work-up and pituitary morphology of both patients are in line with MPHD caused by PROP1 mutation which was subsequently proven by genetic analysis. This was the first time that gene mutation responsible for MPHD was identified in Croatian population. A marked phenotypic variability with delayed appearance of the different hormone deficiencies can be expected in patients with PROP1 mutations and the possibility of corticotroph deficiency should not be overlooked.
20 - 22 Sep 2014
European Society for Paediatric Endocrinology