Journal of Korean Endocrine Society, 24(1):33-37, 2009
Journal of Korean Endocrine Society; 대한내분비학회지
저자들은 저신장증 및 성발달 지연을 보였던 환자에서 중격-시신경 형성장애를 진단하고, 원인 감별을 위한 유전자검사에서 HESX1 돌연변이는 관찰되지 않은 상태로, 호르몬치료를 시행하며 경과 관찰 중인 증례를 경험하였기에 문헌고찰과 함께 보고하는 바이다.
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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