Clinical and cytogenetic characteristics of patients diagnosed with Turner syndrome in a clinical genetics service: cross-sectional retrospective study

Nunes, Maurício Rouvel; Pereira, Tiago Godói; Correia, Henry Victor Dutra; Canabarro, Simone Travi; Vanz, Ana Paula; Zen, Paulo Ricardo Gazzola; Rosa, Rafael Fabiano Machado

doi:10.1590/1516-3180.2020.0470.r2.110321

Cited by 2 publications

(1 citation statement)

References 32 publications

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“…Most patients with TS develop menstrual abnormalities, and many are diagnosed with TS during workups for infertility. Other common clinical findings include skeletal anomalies, such as scoliosis or kyphosis and cubitus valgus (15)(16)(17)(18).…”

Section: Summary Of Key Findingsmentioning

confidence: 99%

Outcomes of cardiothoracic surgery in women with Turner syndrome

Ribé,

Shihadeh,

Afifi

et al. 2023

Ann Cardiothorac Surg

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Background To describe short- and mid-term surgical outcomes of patients with Turner syndrome (TS) after cardiovascular interventions. Methods All individuals >12 years of age at the time of surgical repair for cardiovascular disease (valve or coarctation repairs, aortic disease, aortic dissection) from 2002 to 2022 were eligible. The primary endpoint was complications or death within 30 days of intervention. Secondary outcomes included late complications and reinterventions within six months. Combined data from the University of Texas Health Science Center at Houston and the Turner Syndrome Society of the United States were included in the analysis. Results We identified 22 patients who met the inclusion criterion. The median age was 46 years (range, 21–75 years), with 86% having estrogen replacement therapy. The most common medical condition was hypertension (77%), followed by hypothyroidism (59%). The most frequent indication for surgery was aortic root or ascending aortic aneurysms (68%), followed by symptomatic aortic stenosis in patients with bicuspid aortic valve (64%), coarctation of aorta (45%), and acute aortic dissection (18%). Respiratory complications were the most common (68%). Pleural effusions were the most frequent found sign on imaging studies (68%). Thoracentesis, or chest tube placement, was required in 33% (5/15). Respiratory failure requiring specific support with high flow oxygen and/or thoracentesis occurred in 36% (8/22). Conclusions Patients with TS may be at an increased risk for postoperative complications after aortic surgery. Bicuspid aortic valve (59%) and coarctation of the aorta (45%) were the most common congenital malformations among our study group. Our study showed that respiratory complications were the most common, with pleural effusions being the most common post-surgery complication.

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Section: Summary Of Key Findingsmentioning

confidence: 99%

Outcomes of cardiothoracic surgery in women with Turner syndrome

Ribé,

Shihadeh,

Afifi

et al. 2023

Ann Cardiothorac Surg

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Clinical practice guidelines for the care of girls and women with Turner syndrome

Gravholt,

Andersen,

Christin-Maitre

et al. 2024

European Journal of Endocrinology

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Turner syndrome affects 50 per 100,000 females, affects multiple organs through all stages of life, necessitating multidisciplinary care. This guideline extends previous ones and includes important new advances, within diagnostics and genetics, estrogen treatment, fertility, co-morbidities, and neurocognition and neuropsychology. Exploratory meetings were held in 2021 in Europe and US culminating with a consensus meeting in Aarhus, Denmark in June 2023. Prior to this, eight groups addressed important areas in TS care: 1) diagnosis and genetics, 2) growth, 3) puberty and estrogen treatment, 4) cardiovascular health, 5) transition, 6) fertility assessment, monitoring, and counselling, 7) health surveillance for comorbidities throughout the lifespan, and 8) neurocognition and its implications for mental health and well-being. Each group produced proposals for the present guidelines, which were meticulously discussed by the entire group. Four pertinent questions were submitted for formal GRADE (Grading of Recommendations, Assessment, Development and Evaluation) evaluation with systematic review of the literature. The guidelines project was initiated by the European Society for Endocrinology and the Pediatric Endocrine Society, in collaboration with members from the European Society for Pediatric Endocrinology, the European Society of Human Reproduction and Embryology, the European Reference Network on Rare Endocrine Conditions, the Society for Endocrinology, and the European Society of Cardiology, Japanese Society for Pediatric Endocrinology, Australia and New Zealand Society for Pediatric Endocrinology and Diabetes, Latin American Society for Pediatric Endocrinology, Arab Society for Pediatric Endocrinology and Diabetes, and the Asia Pacific Pediatric Endocrine Society. Advocacy groups appointed representatives for pre-meeting discussions and the consensus meeting.

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Clinical and cytogenetic characteristics of patients diagnosed with Turner syndrome in a clinical genetics service: cross-sectional retrospective study

Cited by 2 publications

References 32 publications

Outcomes of cardiothoracic surgery in women with Turner syndrome

Outcomes of cardiothoracic surgery in women with Turner syndrome

Clinical practice guidelines for the care of girls and women with Turner syndrome

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