Tackling Turner’s Syndrome

Your daughter is 12 years old and she is only 4’ 11” tall. She hasn’t started menstruating yet. Her hairline sits low on her forehead. She has a small chin. She could have Turner’s syndrome.

Turner’s syndrome happens when the female only has one X chromosome. The second X chromosome is abnormal or completely missing. As a result, the female has distinctive traits: short stature (the average height of a Turner woman is less than 5 feet), puffy hands, arched palate, small chin, possible heart and kidney malformation. Others have low set ears, high blood pressure, hearing loss and loose webbed skin at their necks due to inflammation at birth.

The major issue with Turner’s syndrome women is a lack of functioning ovaries, so egg production and estrogen production are nonexistent. Breasts don’t develop, the woman is infertile and there isn’t any menstruation. But some Turner’s syndrome women have variations on this matter.

The majority of women with Turner’s syndrome have typical intelligence, though a small percentage suffer from learning disabilities like spatial awareness. Some may have trouble with math or understanding nonverbal cues such as facial recognition.

Turner’s syndrome affects 1 of every 2,500 female live births worldwide. According to the Eunice Kennedy Shriver National Institute of Child Health and Human Development, the condition affects all races and regions of the world equally. It is estimated that less than 2 percent of babies conceived with Turner’s syndrome survive to be born.

According to the Cleveland Clinic, there are different types of Turner’s syndrome which include:

§  Monosomy X: Each cell has only one X chromosome instead of two. The chromosomal abnormality happens randomly during the formation of reproductive cells in the affected person’s biological parent. If one of these atypical reproductive cells contributes to the genetic makeup of a fetus during conception, the baby will have a single X chromosome in each cell at birth.

§  Mosaic Turner syndrome: Approximately 30 percent of Turner’s syndrome cases fall under this category. Some of your child’s cells have a pair of X chromosomes, while others only have one. It happens during cell division early in pregnancy.

§  Inherited Turner syndrome: In rare cases, babies may have inherited Turner’s syndrome, meaning a biological parent was born with it and passed it on. This usually happens because of the missing part of the X chromosome.

Doctors may be able to detect Turner’s syndrome before birth with tests like the noninvasive prenatal testing, ultrasound during pregnancy and amniocentesis and chorionic villus sampling.

After birth, a genetic test with karyotype analysis is the test that confirms a Turner syndrome diagnosis.

Treatment for Turner’s syndrome may include the following:

§  Human growth hormone therapy: These injections increase height by several inches for Turner girls.

§  Estrogen therapy: Estrogen can help with breast development and menstruation. Estrogen replacement can improve brain development, heart function, liver function and bone health.

§  Cyclic progestins: These medications cause regular menstrual periods. Doctors typically start them around the age of 11 or 12.

The best thing you can do for your child is to find experts in Turner’s syndrome to help her. Early diagnosis is key. Pay attention to her rate of growth. Perhaps she isn’t meeting her milestones.

Once treatment begins, regular monitoring is required. Stay on top and manage other medical concerns like heart problems. It is important to realize that Turner’s syndrome is manageable.

Teach your child to voice her own concerns regarding her treatment and diagnosis. In that way, she learns to raise her self-esteem and feel empowered.