Turner Syndrome Karyotype and Other Details

Turner syndrome can produce a wide range of signs and symptoms. Here are some of the common features of Turner syndrome:

Before birth

• Cystic hygroma – An abnormal swelling that usually appears on a baby’s neck or head. There may be one or many cysts that tends to grow larger over time.
• Congenital heart disease
  • • Bicuspid aortic valve
    • Coarctation of aorta
    • Ventricular or atrial septal defects
    • Anomalous pulmonary vasculature connections
    • Brachiocephalic artery dilatation
• Kidney abnormalities

  • • Duplex Collecting Systems – Condition in which a kidney has two ureters. Causes a back-flow of urine that can result in frequent UTIs and potential damage the kidneys.

    • Horseshoe Kidney – Most common renal abnormality found in patients with TS. Occurs during development of the fetus when the kidneys fuse together and create a horseshoe shape. Although the condition can potentially have no symptoms, the most common problems faced by a child with renal fusion include UTIs, kidney stones, and Hydronephrosis (kidney swelling).

    • Crossed ectopia – condition in which one of the kidneys crosses to the opposite end of the abdomen, and both kidneys lie on the same flank, where they can potentially be fused together. Although this condition usually has a lack of symptoms, it can result in UTIs or urinary obstructions. Patients with crossed ectopia can also experience flank pain, hematuria, or dysuria.