Turner syndrome and Cushing disease – the coexistence with overlapping complications: case report and literature review. (2nd December 2019)

• Record Type: Journal Article
• Authors: Gniewek, Katarzyna; Brona, Anna; Jędrzejuk, Diana; Kolačkov, Katarzyna; Bolanowski, Marek
• Is Part Of: Gynecological endocrinology. Volume 35:Number 12(2019)
• Page Start: 1015
• Page End: 1020
• Publication Date: 2019-12-02
• Subjects: Turner syndrome -- Cushing disease -- cardiovascular complications -- trabecular bone score -- body composition; Endocrine gynecology -- Periodicals; Generative organs, Female -- Diseases -- Periodicals; 618.1
• DOI: 10.1080/09513590.2019.1631281
• Languages: English
• ISSNs: 0951-3590

Abstract

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.