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Septo-Optic Dysplasia Associated with Abnormal Pubertal Development

Patcharada Amatyakul MD*, Tawiwan Panthasri MD**, Teraporn Vutyavanich MD**

Affiliation : * Department of Obstetrics and Gynecology, Faculty of Medicine, Naresuan University, Phitsanulok ** Reproductive Medicine Unit, Department of Obstetrics and Gynecology, Faculty of Medicine, Chiang Mai University, Chiang Mai

Septo-optic dysplasia (SOD) is a congenital anomaly, that is characterized by a triad of optic nerve hypoplasia, structural brain defects, and hypothalamic-pituitary dysfunction. This condition is very rare and it has never been reported in a Thai population. In the present report, the authors described two SOD cases that presented with primary amenorrhea and abnormal pubertal development. Clinical features. Possible etiology of this condition was reviewed.

Keywords : Septo-optic dysplasia (SOD), Primary amenorrhea, Blindness, Magnetic resonance imaging


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