Septo-optic dysplasia associated with abnormal pubertal development.
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
Amatyakul
Patcharada
P
Department of Obstetrics and Gynecology, Faculty of Medicine, Naresuan University, Phitsanulok 65000, Thailand. patcharadaa@nu.ac.th
Panthasri
Tawiwan
T
Vutyavanich
Teraporn
T
D000015:Abnormalities, Multiple; D000293:Adolescent; D000328:Adult; D000568:Amenorrhea; D001766:Blindness; D001921:Brain / Q000002:abnormalities*; D005260:Female; D006801:Humans; D007027:Hypothalamic Diseases / Q000503:physiopathology*; D008279:Magnetic Resonance Imaging; D009421:Nervous System Malformations; D009900:Optic Nerve / Q000002:abnormalities*; D010900:Pituitary Diseases / Q000503:physiopathology*; D010902:Pituitary Gland / Q000002:abnormalities*; D011627:Puberty; D025962:Septo-Optic Dysplasia / Q000209:etiology*