Clinical Pearls & Morning Reports
Published August 30, 2023
In patients with the Turner syndrome, nearly every organ system can be involved; the main causes of complications and death are cardiovascular abnormalities, especially aortic disease. Read the NEJM Case Records of the Massachusetts General Hospital here.
Q: Is the Turner syndrome associated with liver-related complications?
A: The Turner syndrome is associated with a wide spectrum of liver injuries, especially in older patients. These include steatosis, steatofibrosis, and steatohepatitis, all of which are commonly related to being overweight. In some patients, congenitally abnormal vessels cause marked architectural changes in the liver that are associated with a risk of severe liver-related complications. Such changes include obliterative portal venopathy, abnormal liver microvasculature, local hepatic hypoxia, compensatory hyperplasia (including nodular regenerative hyperplasia, which can cause portal hypertension), multiple focal nodular hyperplasia, or cirrhosis.
Q: Do patients with the Turner syndrome have an increased risk of celiac disease?
A: The risk of autoimmune diseases among patients with the Turner syndrome is approximately twice as high as the risk in the general female population. Specifically, the incidence of celiac disease among patients with the Turner syndrome is increased by a factor of 11.
A: Features consistent with the Turner syndrome include short stature, recurrent otitis media, pigmented nevi, and congenital heart and kidney malformations, including aortic sclerosis and horseshoe kidney. Common endocrine issues in patients with the Turner syndrome include ovarian insufficiency, diabetes, hypothyroidism, osteoporosis, and overweight status. When the diagnosis of the Turner syndrome is delayed into adulthood, the reason may be physicians’ lack of familiarity with the mild or unusual clinical features of the broad phenotype. Physicians are generally aware of the more distinctive features that may occur in fetuses, infants, or children including fetal hydrops, postnatal lymphedema, nuchal webbing, characteristic facial features (prominent ears, retrognathia, a small mouth, ptosis, and epicanthal folds), coarctation of the aorta and other congenital defects involving the left side of the heart, hearing loss, delayed puberty, and academic and social challenges.
A: Population-based research has not shown an overall increase in the risk of cancer among patients with the Turner syndrome but suggests a slight increase in the risk of selected tumors. Case series from Turner syndrome clinics have reported tumors involving the central and peripheral nervous system. In addition to paraganglioma and schwannoma, meningioma, astrocytoma, ganglioneuroblastoma, carcinoid tumors, and tumors of the nerve sheath and glomus have been noted in patients with the Turner syndrome.