Cardiometabolic health in Turner syndrome

Abstract

Individuals with Turner syndrome (TS) have a higher morbidity and mortality compared to the general population. Diabetes and cardiovascular disease are the major contributors to this burden. Precursors to diabetes and cardiovascular disease make up what is known as metabolic syndrome, including abdominal obesity, hypertension, dyslipidemia, and elevated fasting glucose. These features of poor cardiometabolic health are also prevalent among women with TS. Youth with TS also exhibit many of these features, indicating that the pathogenesis of these cardiometabolic conditions may begin early in life. The etiology of the increased risk of cardiometabolic conditions in TS is likely multifactorial, involving genetics, epigenetics, hypogonadism, medical comorbidities, medications, and lifestyle. Counseling for the increased risk of cardiometabolic diseases as well as efforts to prevent or lower this risk should be routinely provided in the care of all patients with TS. Clinical practice guidelines are now available to guide screening and treatment of cardiometabolic conditions in girls and women with TS.

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

“…The evaluation and management of cardiometabolic health are key components in the care of girls and women with Turner syndrome, given the extent to which components of metabolic syndrome (central obesity, hypertension, diabetes, and dyslipidemia) contribute to the increased morbidity and mortality observed in this population (Davis & Geffner, ; Gravholt, Andersen, et al, , section 6.1). More than 50% of women with Turner syndrome have an abnormality in glucose homeostasis including insulin resistance, impaired glucose tolerance, and T2D (Sun et al, ).…”

“…In addition to discussions in this review about hypertension (Section 7.3) and diabetes (Sections 6.3 and 10.5), overweight/obesity and dyslipidemia are to be considered in the Turner syndrome population as they contribute to the cardiometabolic syndrome (Davis & Geffner, ).…”

A Case Report of a Patient with Turner Syndrome, Multiple Comorbidities, and Pustular Psoriasis: Correlation or Coincidence?

“…Turner syndrome is associated with an increased prevalence of autoimmune conditions and increased risk of cardiometabolic diseases [7,8]. Psoriasis is an immune-mediated disease supported by findings of deregulated response of T-cells, dendritic cells, and proinflammatory cytokines, which improves with immune modulation [9].…”

“…Psoriasis is an immune-mediated disease supported by findings of deregulated response of T-cells, dendritic cells, and proinflammatory cytokines, which improves with immune modulation [9]. TS patients are at an increased risk for developing metabolic syndrome including HTN, DM2, HLD, obesity, and cardiovascular disease [8]. Moreover, TS patients are at an increased risk of developing psoriasis [2,10,11].…”

The contribution of Xp22.31 gene dosage to Turner and Klinefelter syndromes and sex-biased phenotypes

“…Individuals with TS can display structural cardiac abnormalities including aortic and valvular anomalies (resulting in aortic dilation and dissection in some cases) (Allybocus et al, 2018); an elevated frequency of supraventricular arrhythmia and atrial fibrillation has also been in individuals with TS (Cho et al, 2020;Sozen et al, 2008). Cardiac disease and diabetes risk in TS may be exacerbated by hypertension, abdominal obesity, dyslipidemia, and elevated fasting glucose (Davis and Geffner, 2019). Other features reported in TS cases include congenital lymphodema, renal defects, sensorineural hearing loss, craniofacial dysmorphic signs, urinary system abnormalities, dermatological and autoimmune conditions, webbed neck, misshapen ears, and a broad chest with widely-spaced nipples (Kilinc et al, 2020;Morgan, 2007).…”