Wu R, Ling C, Hahn Y S
Department of Pediatrics, Bronx Lebanon Hospital Center, NY, USA.
J Pediatr Endocrinol Metab. 1995 Jan-Mar;8(1):55-9. doi: 10.1515/jpem.1995.8.1.55.
Two male siblings with chorioretinopathy and pituitary dysfunction (CPD) were found to have empty sellas on CT scan. Extensive ophthalmological and endocrinological investigation revealed the absence of gonadotrophins in both brothers and growth hormone deficiency in one. ACTH, TSH, and posterior pituitary function were normal. Karyotyping in one brother revealed a 46XY complement. Ophthalmological evaluation of three other siblings and both parents revealed normal vision and no evidence of retinopathy. The brothers represent two additional examples of CPD syndrome, suggesting a genetic etiology for this syndrome complex. The empty sellas present add another facet to the central nervous system disorders found in CPD syndrome.
两名患有脉络膜视网膜病变和垂体功能障碍（CPD）的男性同胞在CT扫描中被发现有空蝶鞍。广泛的眼科和内分泌学检查显示，两兄弟均缺乏促性腺激素，其中一人存在生长激素缺乏。促肾上腺皮质激素、促甲状腺激素和垂体后叶功能正常。其中一名兄弟的染色体核型分析显示为46XY核型。对另外三名同胞和父母的眼科评估显示视力正常，且无视网膜病变迹象。这两名兄弟是CPD综合征的另外两个病例，提示该综合征复合体存在遗传病因。出现的空蝶鞍为CPD综合征中发现的中枢神经系统疾病增添了另一个方面。
