Endocrinol Metab > Volume 24(1); 2009 > Article
Journal of Korean Endocrine Society 2009;24(1):33-37.
DOI: https://doi.org/10.3803/jkes.2009.24.1.33    Published online March 1, 2009.
A Case of Septo-optic Dysplasia Associated with Anterior Pituitary Hormone Abnormalities.
Jin Woo Lee, Eui Kyung Hwang, Tae Ho Kim, Hyung Young Yoon, Jae Ho Jung, Yong Won Choi, Suk Woo Yong, Jae Hong Ahn, Sun Yong Kim, Ho Sung Kim, Yoon Sok Chung
1Department of Endocrinology and Metabolism, Ajou University School of Medicine, Korea.
2Department of Neurology, Ajou University School of Medicine, Korea.
3Department of Ophthalmology, Ajou University School of Medicine, Korea.
4Department of Radiology, Ajou University School of Medicine, Korea.
Abstract
Septo-optic dysplasia (SOD) is a rare congenital malformation syndrome that is manifested by a triad of optic nerve hypoplasia, midline brain abnormalities and hypopituitarism. It is known to be associated with homeobox gene HESX1 mutation in some familial cases.
Key Words: Septo-optic dysplasia, hypopituitarism, HESX1 mutation


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