The changing face of Turner syndrome

CH Gravholt, M Viuff, J Just, K Sandahl… - Endocrine …, 2023 - academic.oup.com
Turner syndrome (TS) is a condition in females missing the second sex chromosome (45, X)
or parts thereof. It is considered a rare genetic condition and is associated with a wide range …

Separate and combined effects of semaglutide and empagliflozin on kidney oxygenation and perfusion in people with type 2 diabetes: a randomised trial

S Gullaksen, L Vernstrøm, SS Sørensen, S Ringgaard… - Diabetologia, 2023 - Springer
Aims/hypothesis Glucagon-like peptide-1 receptor agonists (GLP-1ras) and sodium–glucose
cotransporter 2 inhibitors (SGLT2is) have shown kidney-protective effects. Improved kidney …

Hypertension in Turner syndrome: a review of proposed mechanisms, management and new directions

L Jones, J Blair, DB Hawcutt, GYH Lip… - Journal of …, 2023 - journals.lww.com
Acquired cardiovascular diseases account for much of the increased risk of premature death
in patients with Turner syndrome (TS). Hypertension is a major modifiable cardiovascular …

X chromosome dosage and the genetic impact across human tissues

M Viuff, A Skakkebæk, EB Johannsen, S Chang… - Genome Medicine, 2023 - Springer
Abstract Background Sex chromosome aneuploidies (SCAs) give rise to a broad range of
phenotypic traits and diseases. Previous studies based on peripheral blood samples have …

Turner syndrome: French national diagnosis and care protocol (NDCP; national diagnosis and care protocol)

E Fiot, B Alauze, B Donadille… - Orphanet Journal of …, 2022 - Springer
Abstract Turner syndrome (TS; ORPHA 881) is a rare condition in which all or part of one X
chromosome is absent from some or all cells. It affects approximately one in every 1/2500 …

Recognition and management of adults with Turner syndrome: from the transition of adolescence through the senior years

AE Lin, SK Prakash, NH Andersen… - American Journal of …, 2019 - Wiley Online Library
Turner syndrome is recognized now as a syndrome familiar not only to pediatricians and
pediatric specialists, medical geneticists, adult endocrinologists, and cardiologists, but also …

Women with Turner syndrome are both estrogen and androgen deficient: the impact of hormone replacement therapy

MH Viuff, J Just, S Brun, TV Dam… - The Journal of …, 2022 - academic.oup.com
Abstract Context Women with Turner syndrome (TS) suffer from hypergonadotropic
hypogonadism, causing a deficit in gonadal hormone secretion. As a consequence, these …

Superiority of a Representative MRI Flow Waveform over Doppler Ultrasound for Aortic Wave Reflection Assessment in Children and Adolescents With/Without a …

JP Mynard, R Kowalski, HA Harrington… - Annals of Biomedical …, 2023 - Springer
Wave separation analysis (WSA) reveals the impact of forward-and backward-running
waves on the arterial pressure pulse, but the calculations require a flow waveform. This …

Cardiovascular considerations in management of patients with Turner syndrome

M Stefil, A Kotalczyk, JC Blair, GYH Lip - Trends in Cardiovascular Medicine, 2023 - Elsevier
Turner syndrome (TS) is a chromosomal disorder that affects 25–50 per 100,000 live born
females. Patients with TS face a heavy burden of cardiovascular disease (congenital and …

Natural history of hypertension in Turner syndrome during a 12-year pragmatic interventional study

K Sandahl, J Wen, M Erlandsen, NH Andersen… - …, 2020 - Am Heart Assoc
Turner syndrome is caused by complete or partial X monosomy in some or all cells.
Cardiovascular complications are dominant, including increased blood pressure (BP) …