Mosaic Turner syndrome is a condition in which a girl or woman does not have two X chromosomes like she should or one of the X chromosomes is defective. Though this condition is not curable, its main symptoms can be treated, with the course of treatment differing depending on the symptom. For example, many patients with this condition are abnormally short, which can often be treated with injections of growth hormones. Women with mosaic Turner syndrome are usually infertile and may have both irregular menstrual periods and minimal breast growth, both issues treated with estrogen replacement therapy. Medication or surgery may be offered to resolve other symptoms, including high blood pressure, heart murmurs and recurrent middle ear infections.
One of the most obvious signs of mosaic Turner syndrome is abnormally short stature, which is usually noticed after age 3, because this is when patients tend to stop growing as quickly as they should. The typical treatment for this, the injection of growth hormones, is usually started during early childhood, or as soon as the condition is diagnosed. Though the treatment may not allow affected women to become particularly tall or even average height, it may let them grow enough to make this symptom of mosaic Turner syndrome less obvious than it typically is without treatment.
Another symptom that is shared among nearly all women affected by this condition is a lack of sexual changes during puberty. This is typically because the ovaries tend not to work in women with this syndrome, and that affects the whole body. For instance, the breasts do not usually grow at puberty as they should, and menstrual periods may be absent or irregular. Estrogen replacement therapy may be offered to start breast development and induce periods to begin after puberty, which often has the added benefit of reducing the risk of osteoporosis that can be caused by a lack of estrogen. Women who have mosaic Turner syndrome also tend to be infertile because of a lack of working ovaries, but they may be able to get pregnant using donor embryos, because the uterus often works fine.
There are other symptoms that affect women with this syndrome, with high blood pressure being one of the most common, sometimes as the result of a narrow aorta. Once hypertension is diagnosed, it can usually be easily treated with medication. If the high blood pressure is indeed caused by a narrow aorta, in which case the patient also may notice heart murmurs, then the issue often can be treated with surgery performed by a cardiologist. An additional symptom of mosaic Turner syndrome is frequent middle ear infections, which doctors usually treat with ear drops, medication or surgery.
