The Forensic Implications of Turner's Syndrome

Abstract

Turner's syndrome, the most common sex chromosome disorder of females, is caused by complete or partial loss of one X chromosome and is associated with a wide range of internal and external manifestations and increased mortality rates (three to nine times the background population). While individuals with Turner's syndrome may survive for many decades, premature and unexpected deaths can occur that bring decedents to the attention of forensic examiners. Causes of death in Turner's syndrome are often linked to underlying cardiovascular conditions such as aortic dissection, congenital cardiovascular disease, ischemic heart, and cerebrovascular disease, but deaths due to noncardiac causes also occur with increased frequency. The latter include epilepsy, diabetes mellitus, chronic renal disease, pneumonia, chronic liver disease, and malignancy. Thus, the autopsy evaluation of these cases requires careful examination of all major organ systems, with the consideration of confirmatory cytogenetic testing.

Mechanisms of Lethal Cerebrovascular Accidents in Turner Syndrome

“…The reported case demonstrates features such as webbing of the neck, short stature, and gonadal dysgenesis, which are typical of the Turner phenotype. Other features that may be found include poor breast development with widely spaced nipples and internal abnormalities such as bicuspid aortic valve, coarctation of the aorta, aortic and left ventricular hypoplasia, total anomalous pulmonary venous drainage, renal malformations, and streak ovaries . Causes of premature mortality in Turner syndrome have been summarized previously and most often involve aortic dissection related to hypertension, bicuspid aortic valve and coarctation .…”

“…Intracranial conditions associated with premature demise include epilepsy and cerebrovascular accidents (stroke) have not been discussed in any detail in recent reviews . The following report illustrates the features of a case of spontaneous intracerebral hemorrhage in an individual with Turner syndrome and provides a focus for an analysis of the range of possible mechanisms of stroke that may be encountered in the forensic assessment of this syndrome.…”

“Donating our bodies to science”: A discussion about autopsy and organ donation in Turner syndrome

“…Autopsies can provide valuable opportunities to investigate tissues that may not be accessible in life, but are commonly affected in TS, including cord blood, CSF, liver, lung, bone marrow, skin, heart, brain, inner ear, aorta, intestine, uterus, and kidneys. In TS, cardiovascular disease is a focal point of autopsy, because CV conditions are the most frequent cause of death in adult women with TS (Power, Langlois, & Byard, 2014). The anatomic and functional characteristics of bicuspid aortic valves, which are found in one-third of cases, have implications for the prognosis of cardiac and vascular disease.…”

Prolonged QT interval and cardiac arrest after a single dose of amiodarone in a woman with Turner's syndrome

“…The autopsy revealed a malignant ovarian teratoma, but without metastases, the cause of death was described as uncertain. However, the woman had been treated with the potentially QT-prolonging drug [7], quetiapine, in therapeutic doses at the time of death [7]. This drug in combination with QT prolongation associated with Turner's syndrome may have induced ventricular tachyarrhythmia and subsequent death.…”