PDF(Pubmed)
Abstract：
UNASSIGNED: Empty sella syndrome is a complex syndrome with a diverse clinical presentation. The combination with functional hypogonadotropic hypogonadism is a real challenge for the clinician. Mutations in the CHD7 gene could be a possible, yet unproven, cause of \"empty sella\" syndrome. Patients with hypogonadotropic hypogonadism should be examined for possible CHD7 mutations, even if they do not have any CHARGE syndrome characteristics.
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.
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.
摘要：
■空蝶鞍综合征是一种复杂的综合征，临床表现多样。与功能性低促性腺激素性性腺功能减退的组合对临床医生来说是一个真正的挑战。CHD7基因的突变可能是可能的，但未经证实,“空蝶鞍”综合症的原因。低促性腺激素性性腺功能减退患者应检查可能的CHD7突变，即使他们没有任何收费综合征的特征。
■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。
■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。
