Acromegaly coexisting with turner syndrome

Endocrine and Metabolic Science

Yasemin Emur Gunay¹  Savas Volkan Kisioglu²  Murat Hakkı Yarar³  Mustafa Kocak⁴ 

[1] Corresponding author at: Department of Endocrinology, Kanuni Training and Research Hospital, Kaşüstü Mah. Topal Osman Cad. No: 7, Yomra/Trabzon/Turkey.;Department of Endocrinology, Health Sciences University Kanuni Training and Research Hospital, Trabzon, Turkey;Department of Endocrinology, Karadeniz Technical University, Trabzon, Turkey;Department of Genetic Medicine, Karadeniz Technical University, Trabzon, Turkey;

关键词: Acromegaly;    Turner Syndrome;    45,X/46,X,i(X)(q10);    GPR101;   

DOI  :  

来源: DOAJ

【 摘 要 】

Introduction: Acromegaly is a clinical syndrome associated with overexpression of the growth hormone (GH). Turner syndrome (TS) is a rare chromosomal disorder resulting from partial or complete loss of X chromosome and is a common chromosome anomaly in humans. Methods: For the patient due to the presence of short stature and primary ovarian insufficiency, karyotype analysis was performed. Results: 43-year-old acromegalic woman was that detected with a pituitary tumor during the assessment of her GH level and the exploration of the typical phenotype. The patient underwent transsphenoidal pituitary and the pathological result was reported as GH-secreting pituitary adenoma. A karyotype analysis was requested for the patient due to the presence of short stature and primary ovarian insufficiency and her karyotype was determined to be 45,X0/46,x,i(Xq)(q10). Conclusion: Based on these signs and symptoms, coexistence of acromegaly and TS was diagnosed in our patient, which is an extremely rare occurrence that has been reported only in two patients. The evaluation of the clinical profile and karyotype pattern of our patient in line with the findings of recent studies indicated that the intact X chromosome could be inactivated in the cells of our patient that contained the 46,X,i(Xq) karyotype and that an extra copy of the GPR101 gene that is located in the Xq isochromosome could be expressed. This phenomenon may explain the emergence of this disease in middle ages, as seen in our patient who had a mosaic karyotype.

【 授权许可】

Unknown