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KMID : 0356620090240010033
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Journal of Korean Society of Endocrinology
2009 Volume.24 No. 1 p.33 ~ p.37
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A Case of Septo-optic Dysplasia Associated with Anterior Pituitary Hormone Abnormalities
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Lee Jin-Woo
hwang Eui-Kyung
Kim Tae-Ho
Yoon Hyung-Young
Jung Jae-Ho
Choi Yong-Won
Chung Yoon-Sok
Yong Suk-Woo
Ahn Jae-Hong
Kim Sun-Yong
Kim Ho-Sung
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Abstract
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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. We experienced a case of SOD in a 23 year-old male who presented with short stature and delayed puberty. The basal serum levels of testosterone and IGF-1 were low and the prolactin level was high. The combined pituitary stimulation study revealed decreased growth hormone responses. Brain MRI revealed complete
agenesis of the corpus callosum, hypoplasia of the anterior pituitary gland and herniation of the third ventricle
into the pituitary fossa. On the neurologic and ophthalmologic examinations, there was no definite abnormality
except mild optic atrophy on the optical coherence tomography. Genetic analysis using polymerase chain
reaction with direct sequencing revealed no HESX1 mutation
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KEYWORD
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Septo-optic dysplasia, hypopituitarism, HESX1 mutation
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