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Aortic growth rates in a Swedish cohort of women with Turner syndrome.

Int J Cardiol Congenit Heart Dis

March 2024

Department of Internal Medicine and Clinical Nutrition, Institution of Medicine, Sahlgrenska Academy, University of Gothenburg, Gothenburg, Sweden.

Background: Aortic dilation, cardiac malformations and hypertension are known risk factors for aortic dissection in Turner syndrome (TS). In the current guidelines, rapid growth of the aorta has been added as a risk marker. This study aimed to estimate the growth of the ascending aorta over time, to identify risk factors of aortic growth, and to describe aortic complications in TS.

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Kyphoscoliosis is a spinal disorder where the spine's natural curvature is abnormally altered in multiple planes. It may be associated with the presence of a hemivertebrae, as discussed in this case. Negligence of this deformity may cause symptoms of back pain, worsening spinal deformity leading to reduced lung expansion, or neurological deficit impacting the quality of life for the worse.

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Context: 47,XXY/Klinefelter syndrome (XXY) is associated with impaired testicular function and differences in physical growth, metabolism, and neurodevelopment. Clinical features of XXY may be attributable to inadequate testosterone during the mini-puberty period of infancy.

Objective: We tested the hypothesis that exogenous testosterone treatment positively effects short-term physical, hormonal, and neurodevelopmental outcomes in infants with XXY.

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Turner syndrome is a rare chromosomal abnormality in women that is caused by a partial or complete loss of one X chromosome and is often associated with a spectrum of congenital cardiac abnormalities, including cardiac shunts.  A 27-year-old woman with Turner syndrome was also found to have right ventricular dilation, partial anomalous pulmonary venous return, and possible atrial septal defect. She was scheduled for elective surgical repair.

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