Turner syndrome is a relatively common disorder of female development caused by complete or partial monosomy of the X chromosome during embryonic development. Monosomy is a condition in which one chromosome lacks its homologous partner or only one chromosome from a pair is present. The disorder is not usually inherited though; it appears to occur as a result of a random error during the formation of either eggs or sperms.

Cause of Turner Syndrome

Turner syndrome is related to the absence of X chromosome, yet researchers have not determined the exact reason for this condition and the genes that are responsible. However, they identified one gene called SHOX, which is important for bone development and growth. Missing one copy of this gene may cause skeletal abnormalities and short stature in women.

Symptoms and Diagnosis

Turner syndrome symptoms may vary among girls and women with the disorder. Besides, the signs and symptoms can be subtle, developing slowly over time, or sometimes evident such as a heart defect. The most consistent features of Turner syndrome are short stature and premature ovarian failure. However, some women may also have extra skin on their neck (webbed neck).

The disorder may be suspected prenatally based on prenatal cell-free DNA screening or prenatal ultrasound. The prenatal ultrasound of a baby with Turner syndrome will show abnormal fluid collections (edema), heart abnormalities, or abnormal kidneys. On the other hand, the afterbirth symptoms of Turner syndrome include a webbed neck, low-set ears, arms that turn outwards at the elbow, slowed growth, cardiac defects, small lower jaw, short build, early menopause, and even infertility.

Effects of Turner Syndrome

Turner syndrome can affect the proper development of several body systems but varies among individual with the syndrome. Further, there are certain complications that may occur, such as:

Heart problems – Many infants born with this disorder have heart defects, which increase the risk of serious complications. However, heart defects often include the problem with the aorta.
High blood pressure – This is common in women with Down syndrome.
Hearing loss – This is mostly due to the gradual loss of nerve function or frequent middle ear infections.
Vision loss – Women with Turner syndrome are often detected with strabismus, nearsightedness, and other vision problems.
Other effects such as skeletal problems, pregnancy complications, mental health issues, etc., are also signs of Turner syndrome. The disorder can be treated with estrogen replacement therapy and regular checkup at a free women’s clinic. An appropriate medical treatment and support by the healthcare staff would help women with Turner syndrome to lead a normal, healthy, and happy life.

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    About the Author

    Dr. Ghassan M. Al-Jazayrly, MD

    A graduate of University of Aleppo Faculty of Medicine, Dr. Al-Jazayrly or, as he is colloquially known: Dr. AJ, is an oncologist and hematologist of a Complete Care Community Health Center (CCCHC) with more than 36 years of experience. In recent years, he’s been involved with a non profit organization known as Every Woman Counts (EWC) which provides free breast and cervical cancer screening and diagnostic services to California’s underserved populations in order to eliminate health disparities for low-income individuals.

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