Combined pituitary hormone deficiency

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The POU1F1 gene at 3p11.2 codes for the 291 amino acid pituitary-specific positive transcription factor 1 which has two isoforms from alternative splicing. Non functional mutations will cause combined pituitary hormone deficiency (CPHD1). The deficiencies of growth hormone, prolactin and thyroid-stimulating hormone cause in infancy severe growth deficiency from birth as well as distinctive facial features with prominent forehead, marked midfacial hypoplasia with depressed nasal bridge, deep-set eyes, and a short nose with anteverted nostrils. Some cases present with severe mental retardation.