Harsch Igor Alexander, Heß Thomas, Konturek Peter Christopher
Department of Internal Medicine II, Division of Endocrinology and Metabolism, Saalfeld/Saale, Germany.
Department of Internal Medicine II, Division of Gastroenterology, Saalfeld/Saale, Germany.
Wiad Lek. 2019;72(1):124-128.
Turner syndrome can be manifest with a considerable genetic and phenotypic variability. This merely accounts for about 50% of patients who do not have the "classic" 45 X genotype. We report the case of a 42-year-old female patient with a 46, X, del (X) q 21 genotype (deletion on the second X chromosome on the long arm). As the patient displayed a non-typical phenotype and was infertile, a diagnosis was established at the age of 24 with no follow-up treatment. As part of our therapy of the individual due to newly manifested diabetes mellitus, our diagnostic workup revealed a severe metabolic syndrome encompassing fatty liver disease, obstructive sleep apnea syndrome and hyperuricemia. Our observations should sensitize physicians treating female patients for one or more aspects of the metabolic syndrome and its presence in Turner syndrome. These patients have an unfavorable cardiovascular profile, in part due to the metabolic syndrome, but also due to factors intrinsic to Turner syndrome.
特纳综合征可表现出显著的遗传和表型变异性。这仅占约50%没有“经典”45,X基因型的患者。我们报告一例42岁女性患者，其基因型为46,X,del(X)q21（X染色体长臂上的第二个X染色体缺失）。由于该患者表现出非典型表型且不孕，24岁时确诊后未进行后续治疗。作为我们因新出现的糖尿病对该个体进行治疗的一部分，我们的诊断检查发现了一种严重的代谢综合征，包括脂肪肝疾病、阻塞性睡眠呼吸暂停综合征和高尿酸血症。我们的观察结果应使治疗女性患者的医生对代谢综合征及其在特纳综合征中的存在的一个或多个方面保持敏感。这些患者具有不良的心血管状况，部分原因是代谢综合征，但也由于特纳综合征本身的因素。
