저자들은 소아기에 발생한 일차성 공터키안과 복합뇌하수체결핍증을 동반한 특발성 중추성 요붕증을 문헌고찰과 함께 보고하는 바이다. 앞으로 본 예와 같은 증례에서 뇌전산화단층촬영에서 종양이나 침윤성질환이 감별된다면, 뇌하수체 발달과 관련된 유전자에 대한 검사는 원인 감별에 많은 유용한 정보를 주리라 사료된다.
Central diabetes insipidus is a heterogeneous condition that is characterized by polyuria and polydipsia, and this is due to a deficiency of arginine vasopressin. Central diabetes insipidus is rare in children and young adults, and up to 50 percent of cases are idiopathic. Genetic abnormalities in the homeobox genes have recently been shown, on sellar magnetic resonance imaging, to be associated with combined pituitary hormone deficiency with pituitary defect. We report here on a 44-year-old female who suffered from polydipsia, polyuria and primary amenorrhea since childhood. She was diagnosed with idiopathic central diabetes insipidus together with primary empty sella and combined pituitary hormone deficiency. On the genetic analysis, she was proven to have a point mutation of the PROP-1 gene, which is known as a cause of combined pituitary hormone deficiency. (J Kor Endocrine Soc 22:272~276, 2007)