The complete absence of an X chromosome generally occurs because of an error in the father's sperm or in the mother's egg. The genetic changes of Turner syndrome may be one of the following: In females who have Turner syndrome, one copy of the X chromosome is missing, partially missing or changed. Females inherit one X chromosome from each parent. Males inherit the X chromosome from their mothers and the Y chromosome from their fathers. Most people are born with two sex chromosomes. Your doctor may refer you to a physician who specializes in genetics (geneticist) or in hormone disorders (endocrinologist) for further evaluation. See your doctor if there are concerns about the possibility of Turner syndrome. It's important to get a prompt, accurate diagnosis and appropriate care. Sometimes it's difficult to distinguish the signs and symptoms of Turner syndrome from other disorders. For most females with Turner syndrome, inability to conceive a child without fertility treatment.Early end to menstrual cycles not due to pregnancy.Sexual development that 'stalls' during teenage years.Failure to begin sexual changes expected during puberty.Adult height significantly less than might be expected for a female member of the family.No growth spurts at expected times in childhood.

Failure of the ovaries to develop may occur at birth or gradually during childhood, the teen years or young adulthood. The most common signs in almost all girls, teenagers and young women with Turner syndrome are short stature and ovarian insufficiency due to ovarian failure. Slightly smaller than average height at birth.Swelling of the hands and feet, especially at birth.Fingernails and toenails that are narrow and turned upward.High, narrow roof of the mouth (palate).Signs of Turner syndrome at birth or during infancy may include: Large fluid collection on the back of the neck or other abnormal fluid collections (edema).Prenatal ultrasound of a baby with Turner syndrome may show: Turner syndrome may be suspected prenatally based on prenatal cell-free DNA screening ― a method to screen for certain chromosomal abnormalities in a developing baby using a blood sample from the mother ― or prenatal ultrasound. Signs and symptoms can be subtle, developing slowly over time, or significant, such as heart defects. For some girls, the presence of Turner syndrome may not be readily apparent, but in other girls, several physical features are apparent early. Signs and symptoms of Turner syndrome may vary among girls and women with the disorder.

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