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Clinical Importance of Identification of PROP1 Gene Mutations in Children with Inherited Growth Hormone Deficiency

Publication at First Faculty of Medicine |


PROP1 gene is the transcription factor regulating the differentiation of anterior pituitary cells during embryologic development. Mutations found in this gene are the most frequent cause of inherited pituitary hormone deficiency in the Middle and Eastern Europe.

The aim of this study was to identify the individuals with PROP1 gene mutations in the group of children with idiopathic combined pituitary hormone deficiency and with isolated growth hormone deficiency. This study has not confirmed the clinical importance of routine identification of PROP1 gene mutations in the phenotypic heterogeneous group of patients with idiopathic isolated or combined growth hormone deficiency.