Turner syndrome (TS) is a hereditary disorder affecting young girls and women, caused by a missing or partially missing X chromosome.
Each cell in the human body has two sex chromosomes. Women have two X chromosomes and men have one X chromosome and one Y chromosome.
In girls with Turner syndrome, one of the X chromosomes is missing, partially missing, or modified. This defect results in problems during fetal development and other developmental problems after birth.
The genetic alterations of Turner syndrome may be one of the following:
- Monosomy: Absence of the X chromosome that occurs due to a defect in the father’s sperm or in the mother's egg.
- Mosaicism: An error may occur in cell division during the early phases of a fetus’ development. This causes a few cells in the body to have two complete X chromosomes, and the other cells to have just one copy.
- X chromosome abnormalities: If abnormal or missing pieces of one of the X chromosomes occurs, all cells have one complete and one altered copy of the X chromosome.
- Y chromosome material: In some cases, a few cells have one copy of the X chromosome while other cells have a copy of the X chromosome as well as some Y chromosome material.
What are the signs and symptoms of Turner syndrome?
Another key symptom is irregular sexual development. Most females with TS present with the following:
- Absence of normal breast development
- Might not have menstrual periods
- Have small ovaries that may function for only a few years or not at all
- Normally do not go through puberty
- Do not make sex hormones
Females with Turner syndrome regularly have other physical characteristics such as:
- Broad chest
- Cubitus valgus (a deformity where the forearm is angled away from the torso when the arm is fully extended)
- Dental issues
- Eye issues (drooping eyelids, etc.)
- Scoliosis (spine bends sideways)
How is Turner syndrome diagnosed?
After considering the symptoms, a blood test is done to analyze the child’s chromosomes. In some cases, a buccal smear or skin sample may also be ordered. The chromosome analysis determines whether there is a missing X chromosome or abnormality in any one of the X chromosomes.
In some cases, a diagnosis is made during fetal development. Prenatal screening tests are conducted to help assess the child's DNA in the mother's blood (prenatal cell-free DNA screening or noninvasive prenatal screening), which may help identify the risk of Turner syndrome.
What is the treatment for Turner syndrome?
There is no cure for Turner syndrome. However, therapies have been developed that can help improve physical development. Because symptoms and causes vary, treatments are customized to resolve problems particular to each patient.
Typical treatments involve growth hormone treatment and estrogen treatments:
- Growth hormone (GH) therapies can help normalize height. Usually, the earlier GH treatment is begun, the more effective it is.
- Sex hormone replacement therapy may help the affected person attain physical development related to adolescence. Estrogen and progesterone replacement treatment may help advance puberty, lead to the improvement secondary sexual attributes, and cause the affected person to start menstruating.
Other treatments are symptomatic and supportive.
Daniel MS. Turner Syndrome. Medscape. https://emedicine.medscape.com/article/949681-overview
National Institutes of Health. Turner syndrome. https://rarediseases.info.nih.gov/diseases/7831/turner-syndrome
Top What Chromosome Is Turner Syndrome Found On Related Articles
Baby's 1st Yr SlideshowWhat developmental milestones can you expect to see during baby's first year? Find out when babies learn to smile, laugh, crawl, and talk.
Fetal DevelopmentTake a peek inside the womb to see the stages of fetal development. Learn how embryos develop and grow during pregnancy. See week after week ultrasound images of your baby in the womb.
Hormone TherapyEstrogen therapy, estrogen/progestin therapy, and hormone therapy are terms that refer to the administration of estrogen or estrogen/progestin for the purpose of suppressing hot flashes. Side effects of hormone therapy include headaches, nausea, breast pain, blood clots, breast cancer, heart disease, abnormal vaginal bleeding, stroke, and uterine cancer.
How Do You Identify Developmental Delays in Children?According to the CDC, about one in six children in the United States has one or another kind of developmental delay or developmental disability. Possible signs of developmental delay include a baby not being able to hold their head up by 4 months of age, can't sit well by 10 months of age, doesn't move their arms or legs, having an unusual cry, doesn't want to stand up, and other signs.
What Are Polycystic Ovarian Syndrome (PCOS) Symptoms?Polycystic ovarian syndrome (PCOS), also known by the name Stein-Leventhal syndrome, is a hormonal problem that causes women to have a variety of symptoms including irregular or no menstrual periods, acne, obesity, and excess hair growth. Treatment of PCOS depends partially on the woman's stage of life and the symptoms of PCOS.
PubertyThe time when boys and girls begin the process of sexual maturation is called puberty. During this time, both sexes undergo a series of biological changes that include a rapid increase in height, bone growth, weight increase, the growth of pubic hair, breast development, and the onset of menstruation in girls, and testicle, penis, and muscle enlargement in boys.
Puberty in Girls QuizTake the Puberty In Girls Quiz to learn the myths and facts about normal adolescent growth and development for teens and tweens.
Stages of Puberty: In Boys and GirlsPuberty is the time in a child’s life when sexual maturation occurs. There are several stages of puberty. A child goes through many physical and internal changes during the various stages of puberty, beginning around the age of 8 years in girls and 10 years in boys, till the age of 18 years when they attain complete maturation.
What Are the 5 Stages of Child Development?Children undergo various changes in terms of physical, speech, intellectual, and cognitive development until adolescence. The five stages of child development include the newborn, infant, toddler, preschool, and school-age stages.
What Is an X Mutation?X-linked refers to any ailment that has an X chromosomal connection. Mammals normally have two copies of the X chromosome in females and one in males, which is referred to as a sex chromosome. Compared to the Y chromosome, which has only about 70 protein-coding genes, the X chromosome in humans contains about 800 protein-coding genes. The genes located in the X chromosome are referred to as X-linked genes.
What Is the Survival Rate of Turner Syndrome?The survival rate of people with Turner syndrome is typically good. Life expectancy is slightly shorter than average but can be improved by treating underlying chronic illnesses, such as obesity and hypertension. Heart disease is an important cause of death in these individuals. Regular monitoring has shown considerable improvement in the quality and length of life. Turner syndrome is not the reason for mental retardation, and women with Turner syndrome may be gainfully employed.
When Should I Worry About My Child’s Development?Learn the different types of delayed development and find out about the different warning signs of developmental delays.