특발성 중추성 요붕증이 동반된 터너 증후군 1례
A Case of Turner Syndrome Associated with Idiopathic Central Diabetes Insipidus
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본 증례의 환아는 염색체 검사에서 45,X/46,XX의 핵형을 가진 터너 증후군으로 진단되었고, 수분제한 검사 및 항이뇨 호르몬 투여후 요 삼투압이 증가하여 중추성 요붕증에 합당하였다. 또한, 뇌하수체 자기공명 영상에서 뇌하수체 줄기의 비후를 보였으나, 2년 관찰 과정 중에 뇌하수체 줄기의 비후는 저절로 소실되었다. 터너 증후군에서 심혈관계 질환, 신기형, 안과적 이상 및 내분비 질환 등이 동반되는 것으로 잘 알려져 있다. 반면, 터너 증후군에서 중추성 요붕증이 보고된 적은 드물며, 뇌하수체 자기공명 영상을 처음으로 시행하였기에 보고하는 바이다.
Abstract
We report a case of Turner syndrome associated with idiopathic central diabetes insipidus in a 12-year-old girl, who presented with polyuria and polydipsia after a year. The patient was very short and and centrally obese, and was initially diagnosed with Turner syndrome, hyperlipidema, and diabetes mellitus. A water deprivation test revealed central diabetes insipidus, and sellar magnetic resonance imaging (MRI) showed a thickening of the pituitary stalk, with normal high signal intensity in the posterior pituitary gland. Replacement therapy with desmopressin was initiated, and follow-up sellar MRI findings after two years showed spontaneous regression of the thickened pituitary stalk. There are only few reports of concomitant Turner syndrome with central diabetes insipidus worldwide. Further observation is needed in order to disclose the cause of central diabetes insipidus in patients having Turner syndrome.(J Korean Soc Pediatr Endocrinol 2011;16:56-60)
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