UNASSIGNED: Empty sella is an anatomo-radiological finding characterized by arachnoid herniation into the sellar fossa with reduction of pituitary volume and/or pituitary stalk compression). We report a clinical case of 35-year-old identical male twins, admitted to the clinic of endocrinology and metabolic diseases with history of infertility, hormonal constellation of hyposomatotropism and hypogonadotropic hypogonadism. The patients presented with hyposmia. Magnetic resonance imaging (MRI) of the hypothalamic-pituitary region revealed the presence of partial empty sella. CHD7 gene variant was observed on genetic testing. CHD7 gene mutation was considered as a possible reason for the presence of central hypogonadism and yet unproven genetic cause of \"empty sella\" syndrome.
■空蝶鞍是一种解剖学放射学发现,其特征是蛛网膜疝进入鞍窝,垂体体积减少和/或垂体柄受压)。我们报道了一个35岁同卵双胞胎的临床病例,有不孕症病史的内分泌代谢病门诊,性腺减少症和低促性腺激素性腺功能减退的激素星座。患者出现食欲不振。下丘脑-垂体区域的磁共振成像(MRI)显示存在部分空蝶鞍。在基因检测中观察到CHD7基因变异。CHD7基因突变被认为是中枢性腺功能减退症存在的可能原因,但尚未证实的“空蝶鞍”综合征的遗传原因。