By Yervand Kondrahjiyan | Staff Writer
We usually think of human sex chromosomes as either XX or XY, for females and males respectively. However, what many do not know is that this combination of chromosomes is not always correct, and issues in these chromosomes can lead to many syndromes.
Turner syndrome (TS) is one of the most common female chromosomal genetic disorders, associated with complete or partial loss of a single X chromosome (DNA), leaving the patient with one X chromosome. The physical appearance of the patient includes short height, delayed puberty, infertility, heart malformations, weakened bones, and autoimmune disorders.
In addition, this disorder is linked with increased prevalence of diabetes. This factor, coupled with higher incidence of cardiovascular disease in patients with TS, may contribute to increased mortality in this population.
The risk of autoimmune diseases (AD) in patients with TS is higher than that in the women and men of the general population. Thyroiditis (malfunctioning of the thyroid gland), diabetes, and coeliac disease were significantly more common in women with TS than that in the general population.
TS is also likely to lead to various complications including lifestyle-related diseases, including obesity and diabetes. The cause of the increased risk of such conditions in TS is likely multifactorial, involving genetics, certain symptoms of the disease such as hypothyroidism, medical comorbidities, medications, and lifestyle.
Turner syndrome may be a condition that necessitates a multidisciplinary approach to patient management. However, a variety of issues concerning diagnosis, hormone replacement therapy, co-morbidities, fertility and continuation of care, remain to be resolved.