What is Turner's syndrome caused by?

mayoclinic.org - Turner syndrome - Symptoms and causes - Mayo Clinic

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Overview

Turner syndrome, a condition that affects only females, results when one of the X chromosomes (sex chromosomes) is missing or partially missing. Turner syndrome can cause a variety of medical and developmental problems, including short height, failure of the ovaries to develop and heart defects. Turner syndrome may be diagnosed before birth (prenatally), during infancy or in early childhood. Occasionally, in females with mild signs and symptoms of Turner syndrome, the diagnosis is delayed until the teen or young adult years. Girls and women with Turner syndrome need ongoing medical care from a variety of specialists. Regular checkups and appropriate care can help most girls and women lead healthy, independent lives.

Symptoms

Signs and symptoms of Turner syndrome may vary among girls and women with the disorder. 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 can be subtle, developing slowly over time, or significant, such as heart defects.

Before birth

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. Prenatal ultrasound of a baby with Turner syndrome may show: Large fluid collection on the back of the neck or other abnormal fluid collections (edema)

Heart abnormalities

Abnormal kidneys

At birth or during infancy

Signs of Turner syndrome at birth or during infancy may include:

Wide or weblike neck

Low-set ears

Broad chest with widely spaced nipples

High, narrow roof of the mouth (palate)

Arms that turn outward at the elbows

Fingernails and toenails that are narrow and turned upward

Swelling of the hands and feet, especially at birth

Slightly smaller than average height at birth

Slowed growth

Cardiac defects

Low hairline at the back of the head

Receding or small lower jaw

Short fingers and toes

In childhood, teens and 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. Failure of the ovaries to develop may occur at birth or gradually during childhood, the teen years or young adulthood. Signs and symptoms of these include:

Slowed growth

No growth spurts at expected times in childhood

Failure to begin sexual changes expected during puberty

Sexual development that "stalls" during teenage years

Early end to menstrual cycles not due to pregnancy

For most females with Turner syndrome, inability to conceive a child without fertility treatment

When to see a doctor

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Sometimes it's difficult to distinguish the signs and symptoms of Turner syndrome from other disorders. It's important to get a prompt, accurate diagnosis and appropriate care. See your doctor if there are concerns about the possibility of Turner syndrome. Your doctor may refer you to a physician who specializes in genetics (geneticist) or in hormone disorders (endocrinologist) for further evaluation. There is a problem with information submitted for this request. Review/update the information highlighted below and resubmit the form. From Mayo Clinic to your inbox Sign up for free, and stay up to date on research advancements, health tips and current health topics, like COVID-19, plus expertise on managing health. Email ErrorEmail field is required ErrorInclude a valid email address Learn more about Mayo Clinic’s use of data. To provide you with the most relevant and helpful information, and understand which information is beneficial, we may combine your email and website usage information with other information we have about you. If you are a Mayo Clinic patient, this could include protected health information. If we combine this information with your protected health information, we will treat all of that information as protected health information and will only use or disclose that information as set forth in our notice of privacy practices. You may opt-out of email communications at any time by clicking on the unsubscribe link in the e-mail. Subscribe! Thank you for subscribing! You'll soon start receiving the latest Mayo Clinic health information you requested in your inbox. Sorry something went wrong with your subscription Please, try again in a couple of minutes Retry

Causes

Most people are born with two sex chromosomes. Males inherit the X chromosome from their mothers and the Y chromosome from their fathers. Females inherit one X chromosome from each parent. In females who have Turner syndrome, one copy of the X chromosome is missing, partially missing or changed.

The genetic changes of Turner syndrome may be one of the following:

Monosomy. The complete absence of an X chromosome generally occurs because of an error in the father's sperm or in the mother's egg. This results in every cell in the body having only one X chromosome. The complete absence of an X chromosome generally occurs because of an error in the father's sperm or in the mother's egg. This results in every cell in the body having only one X chromosome. Mosaicism. In some cases, an error occurs in cell division during early stages of fetal development. This results in some cells in the body having two complete copies of the X chromosome. Other cells have only one copy of the X chromosome. In some cases, an error occurs in cell division during early stages of fetal development. This results in some cells in the body having two complete copies of the X chromosome. Other cells have only one copy of the X chromosome. X chromosome changes. Changed or missing parts of one of the X chromosomes can occur. Cells have one complete and one altered copy. This error can occur in the sperm or egg with all cells having one complete and one altered copy. Or the error can occur in cell division in early fetal development so that only some cells contain the changed or missing parts of one of the X chromosomes (mosaicism).

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Changed or missing parts of one of the X chromosomes can occur. Cells have one complete and one altered copy. This error can occur in the sperm or egg with all cells having one complete and one altered copy. Or the error can occur in cell division in early fetal development so that only some cells contain the changed or missing parts of one of the X chromosomes (mosaicism). Y chromosome material. In a small percentage of Turner syndrome cases, some cells have one copy of the X chromosome and other cells have one copy of the X chromosome and some Y chromosome material. These individuals develop biologically as female, but the presence of Y chromosome material increases the risk of developing a type of cancer called gonadoblastoma.

Effects of the missing or changed chromosome

The missing or changed X chromosome of Turner syndrome causes problems during fetal development and other developmental problems after birth — for example, short stature, ovarian insufficiency and heart defects. Physical characteristics and health complications that arise from these chromosomal issues vary greatly.

Risk factors

The loss or alteration of the X chromosome occurs randomly. Sometimes, it's because of a problem with the sperm or the egg, and other times, the loss or alteration of the X chromosome happens early in fetal development. Family history doesn't seem to be a risk factor, so it's unlikely that parents of one child with Turner syndrome will have another child with the disorder.

Complications

Turner syndrome can affect the proper development of several body systems, but this varies greatly among individuals with the syndrome. Complications that can occur include:

mayoclinic.org - Turner syndrome - Symptoms and causes - Mayo Clinic

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