Turner syndrome - Symptoms and causes (2023)

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.

(Video) Turner Syndrome - Karyotype, Features, and Management

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
  • Adult height significantly less than might be expected for a female member of the family
  • 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

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.

Request an Appointment at Mayo Clinic

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.

(Video) When a Child or Teen has Turner Syndrome - Dr. Mark Daniels

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.

(Video) Klinefelter (XXY) & Turner Syndrome (Gonadal Dysgenesis) – Pediatric Genetics | Lecturio

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.
  • 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.
  • 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).
  • 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.

(Video) Understanding Parsonage-Turner Syndrome

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:

  • Heart problems. Many infants with Turner syndrome are born with heart defects or even slight abnormalities in heart structure that increase their risk of serious complications. Heart defects often include problems with the aorta, the large blood vessel that branches off the heart and delivers oxygen-rich blood to the body.
  • High blood pressure. Turner syndrome can increase the risk of high blood pressure — a condition that increases the risk of developing diseases of the heart and blood vessels.
  • Hearing loss. Hearing loss is common with Turner syndrome. In some cases, this is due to the gradual loss of nerve function. An increased risk of frequent middle ear infections can also result in hearing loss.
  • Vision problems. An increased risk of weak muscle control of eye movements (strabismus), nearsightedness and other vision problems can occur with Turner syndrome.
  • Kidney problems. Turner syndrome may be associated with malformations of the kidneys. Although these abnormalities generally don't cause medical problems, they may increase the risk of urinary tract infections.
  • Autoimmune disorders. Turner syndrome can increase the risk of an underactive thyroid (hypothyroidism) due to the autoimmune disorder Hashimoto's thyroiditis. There is also an increased risk of diabetes. Sometimes Turner syndrome is associated with gluten intolerance (celiac disease) or inflammatory bowel disease.
  • Skeletal problems. Problems with the growth and development of bones increase the risk of abnormal curvature of the spine (scoliosis) and forward rounding of the upper back (kyphosis). Turner syndrome can also increase the risk of developing weak, brittle bones (osteoporosis).
  • Learning disabilities. Girls and women with Turner syndrome usually have normal intelligence. However, there is increased risk of learning disabilities, particularly with learning that involves spatial concepts, math, memory and attention.
  • Mental health issues. Girls and women with Turner syndrome may have challenges functioning in social situations, may experience anxiety and depression, and may have an increased risk of attention-deficit/hyperactivity disorder (ADHD).
  • Infertility. Most females with Turner syndrome are infertile. However, a very small number may become pregnant spontaneously, and some can become pregnant with fertility treatment.
  • Pregnancy complications. Because women with Turner syndrome are at increased risk of complications during pregnancy, such as high blood pressure and aortic dissection, they should be evaluated by a heart specialist (cardiologist) and a high-risk pregnancy doctor (maternal-fetal medicine specialist) before pregnancy.

By Mayo Clinic Staff

Feb. 11, 2022

(Video) What is Turner Syndrome? (HealthSketch)

FAQs

What is the main cause of Turner syndrome? ›

Turner syndrome occurs when part or all of an X chromosome is missing from most or all of the cells in a girl's body. A girl normally receives one X chromosome from each parent. The error that leads to the missing chromosome appears to happen during the formation of the egg or sperm.

What are three symptoms of Turner syndrome? ›

Features of Turner syndrome may include a short neck with a webbed appearance, low hairline at the back of the neck, low-set ears, hands and feet that are swollen or puffy at birth, and soft nails that turn upward. Stature. Girls with Turner syndrome grow more slowly than other children.

What is a symptom of a female with Turner syndrome? ›

Turner syndrome is a chromosomal condition that affects development in females. The most common feature of Turner syndrome is short stature, which becomes evident by about age 5. An early loss of ovarian function (ovarian hypofunction or premature ovarian failure) is also very common.

Which parent causes Turner syndrome? ›

Turner syndrome is not caused by anything the parents did or did not do. The disorder is a random error in cell division that happens when a parent's reproductive cells are being formed. Girls born with the X condition in only some of their cells have mosaic Turner syndrome.

What are 2 symptoms of Turner's? ›

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.
11 Feb 2022

How long do people with Turner syndrome live? ›

The prognosis, or outlook, for women with Turner syndrome (TS) is usually good. Life expectancy for Turner syndrome might be slightly shorter, but by testing for and treating the conditions that come with TS, women with TS can expect to live essentially normal lives.

Who is at risk for Turner syndrome? ›

Turner syndrome is a female-only genetic disorder that affects about 1 in every 2,000 baby girls. A girl with Turner syndrome only has 1 normal X sex chromosome, rather than the usual 2. This chromosome variation happens randomly when the baby is conceived in the womb. It is not linked to the mother's age.

How is Turner syndrome diagnosed? ›

A diagnosis of Turner syndrome is often confirmed by chromosomal analysis, which is usually achieved by determining the karyotype. Karyotyping is a laboratory test that evaluates the number and structure of chromosomes. Karyotyping can be done on almost any type of tissue.

What are some risk factors for Turner syndrome? ›

Risk Factors for Turner Syndrome

The loss or alteration of the X chromosome that causes Turner syndrome occurs randomly — sometimes as a result of problems with the father's sperm or the mother's egg and, for others, as a result of something that happens early in fetal development.

Can Turner syndrome be prevented? ›

Turner syndrome cannot be prevented. It is a genetic problem that is caused by a random error that leads to a missing X chromosome in the sperm or egg of a parent. There is nothing the father or mother can do to prevent the error from occurring. However, there are many options for treatment.

Can Turner syndrome be cured? ›

There's no cure for Turner syndrome but many of the associated symptoms can be treated.

What is the best treatment for Turner syndrome? ›

The primary treatments for nearly all girls and women with Turner syndrome include hormone therapies:
  • Growth hormone. ...
  • Estrogen therapy.
11 Feb 2022

Can Turner syndrome be detected before birth? ›

Turner syndrome is usually identified during childhood or at puberty. However, it can sometimes be diagnosed before a baby is born using a test called amniocentesis.

Videos

1. Turner Syndrome 101
(Demystifying Medicine McMaster)
2. Turner Syndrome | monosomic disorder | symptoms and treatment of turner syndrome in Hindi
(All fact learn)
3. Parsonage Turner Syndrome
(Ortho EVAL Pal With Paul Marquis PT)
4. Class 12 Biology Chapter 5 | Turner’s Syndrome (Features) - Principles of Inheritance & Variation
(Magnet Brains)
5. Turner Syndrome, cause, symptoms, diagnosis, treatment (whiteboard animation)
(Heal the World)
6. Turner syndrome: Beyond the classic XO phenotype
(Children's National Hospital)
Top Articles
Latest Posts
Article information

Author: Kerri Lueilwitz

Last Updated: 12/06/2022

Views: 5867

Rating: 4.7 / 5 (67 voted)

Reviews: 82% of readers found this page helpful

Author information

Name: Kerri Lueilwitz

Birthday: 1992-10-31

Address: Suite 878 3699 Chantelle Roads, Colebury, NC 68599

Phone: +6111989609516

Job: Chief Farming Manager

Hobby: Mycology, Stone skipping, Dowsing, Whittling, Taxidermy, Sand art, Roller skating

Introduction: My name is Kerri Lueilwitz, I am a courageous, gentle, quaint, thankful, outstanding, brave, vast person who loves writing and wants to share my knowledge and understanding with you.