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Objective:  There are many genes reported to have been associated with combined pituitary hormone deficiencies, but mutations in  HESX1 strongly correlate with septo-optic dysplasia. Our aim was to determine the cause of panhypopituitarism in our patient.

A novel homozygous HESX1 mutation causes panhypopituitarism without midline defects and optic nerve anomalies