A novel homozygous HESX1 mutation causes panhypopituitarism without midline defects and optic nerve anomalies
Articles > Article · 2011
Authors: Mehmet Burak DURMAZ, Muhsin Özgür ÇOĞULU, Ceyhun DIZDARER, Heike STOBBE, Roland PFAEFFLE, Feriştah Ferda ÖZKINAY
JOURNAL OF PEDIATRIC ENDOCRINOLOGY & METABOLISM, Journal Indexed in SCI Expanded, International, 2011, vol 24, pp 779-782
Summary
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.