Abstract
The most common genetically determined cause of multiple pituitary hormone deficiency is PROP-1 gene mutation. PROP-1 is a transcription factor involved in the development of pituitary gland and affects hormonal synthesis of anterior pituitary. The aim of our study was to evaluate radiological aspects of the pituitary region in patients with PROP-1 gene mutation. Pituitary imaging studies were performed in 12 patients with a confirmed PROP-1 gene mutation. Pituitary hyperplasia was found in 5 (42%) and pituitary hypoplasia in 4 (33%) patients. Changes in pituitary size were not associated with the type of PROP-1 gene mutation.
Publication types
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Comparative Study
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Evaluation Study
MeSH terms
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Adolescent
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Brain / diagnostic imaging
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Child
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Child, Preschool
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Female
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Homeodomain Proteins / genetics*
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Human Growth Hormone / deficiency
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Humans
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Hyperplasia
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Hypopituitarism / diagnosis
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Hypopituitarism / diagnostic imaging
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Hypopituitarism / genetics*
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Hypopituitarism / pathology*
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Hypopituitarism / physiopathology
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Infant, Newborn
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Magnetic Resonance Imaging
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Male
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Mutation*
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Pituitary Gland / diagnostic imaging
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Pituitary Gland / pathology*
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Pituitary Hormones / deficiency
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Tomography, Spiral Computed
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Transcription Factors
Substances
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Homeodomain Proteins
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Pituitary Hormones
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Prophet of Pit-1 protein
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Transcription Factors
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Human Growth Hormone