Turner syndrome and Cushing disease – the coexistence with overlapping complications: case report and literature review

Abstract

We present an unusual case of Turner syndrome (TS) and Cushing disease (CD) in a young woman, admitted to our department seven years after a successful surgical removal of ACTH-secreting pituitary tumor. To our knowledge, this is the first ever report of these two disorders coexisting. Our patient was diagnosed with TS at the age of 16 due to primary amenorrhea and short stature. Hormone replacement therapy with estrogen was initiated, but she did not receive growth hormone therapy. At the age of 28, she developed clinical and biochemical abnormalities consistent with hypercortisolism, but the definitive diagnosis of CD was established nine years later when she was admitted to our department. Appropriate treatment was applied, however, the patient developed serious complications: a myocardial infarction, diabetes and osteoporosis. Surgical treatment appeared to improve some, but not all of the symptoms, indicating a significant contribution of concomitant TS to the severity of adverse cardiovascular and bone turnover outcomes in a subject with a genetic susceptibility to these complications. Thus, multidisciplinary evaluation in such patients is strongly indicated, particularly if more predisposing conditions are present.

摘要

我们报告一个特纳综合征(TS)和库欣病(CD) 的特殊病例, 患者是一名年轻女性, 在垂体ACTH瘤成功手术切除7年后收入我科。据我们所知, 这是首次报道这两种疾病同时存在。病人在16岁时因原发性闭经和身材矮小被诊断为TS。开始使用雌激素进行激素替代治疗, 但未接受生长激素治疗。患者于28岁时出现了与皮质醇增多症相一致的临床和生化异常, 但9年后收入我们科室时才被确诊为CD。虽然对病人给予了恰当治疗, 但病人出现了严重的并发症:心肌梗塞、糖尿病和骨质疏松症。手术治疗似乎改善了一些症状, 但不是所有的症状。说明在携带这些并发症易感基因的患者中, 伴随的TS会加重不良心血管和骨转换结果的严重性。因此, 我们强调对此类患者进行多学科评估, 尤其是有更多发病的诱因时。

The Chinese abstracts are translated by Prof. Dr. Xiangyan Ruan and her team: Beijing Obstetrics and Gynecology Hospital, Capital Medical University, Beijing 100026, China.

Keywords:

• Turner syndrome
• Cushing disease
• cardiovascular complications
• trabecular bone score
• body composition

Disclosure statement

The authors report no conflict of interest.