Understanding Turner Syndrome

This week we focus on Turner syndrome in our Sunday focus on rare disorders and disabilities. This is a condition that affects only females and tends to be overlooked until children reach puberty. Turner syndrome can cause a range of medical and developmental problems.

Turner syndrome is caused when one of the X chromosomes, which are sex chromosomes, is missing wholly or in part. It can cause many medical and developmental problems. Some of these are short height, failure of the ovaries to develop and heart defects.

Causes, according to MAGIC Foundation, a Tamil Nadu-based organisation looking to create awareness about rare disabilities and disorders, are multifactorial. People with this condition may also have abnormal body proportions “characterised by markedly shortened lower extremities.”

“Growth is an aspect that is neglected in India”, says Deepa Kannan, Co-founder, MAGIC Foundation. “Lack of correct growth can have multiple reasons. Growth awareness has to be addressed in India. It is not taken as seriously as cancer or heart disease. People are clueless about growth conditions and family members often end up dismissing concerns that parents may raise out height or growth issues. We are working to change that”.

Signs of Turner Syndrome

Signs At Birth/Infancy

• 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
• Slowed growth
• Cardiac defects

Signs In Child/Teen/Adult

• Slowed growth
• 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 women with Turner syndrome, inability to conceive a child without fertility treatment

Diagnosis is difficult to get as testing is not mandated. It is available only big hospitals.Most women end up getting ignored until they don’t get their periods. Parents check only then and get investigations done. – Deepa Kannan, Co-founder, MAGIC Foundation

Complications

• Heart problems – Babies are born with heart defects or even slight abnormalities in heart structure that increase their risk of serious complications.
• High blood pressure – Increased risk of high blood pressure. This increases the risk of developing diseases of the heart and blood vessels.
• Hearing loss – Hearing loss is common with Turner syndrome due to gradual loss of nerve function. There is also increased risk of frequent middle ear infections causing this.
• Vision problems – Weak muscle control of eye movements, nearsightedness, etc.
• Kidney problems – Malformation of kidneys can increase risk of high blood pressure and urinary tract infections.
• Other risks are skeletal problems, learning disabilities, mental health issues, infertility, and pregnancy complications.

Many of these can be addressed if parents are alert and approach a specialist on time, says Dr Shaila Bhattacharya, Founder, Shiva Jyoti Clinic. Dr Bhattacharya treats patients with this condition.

“The condition is not recognised and that is the problem. It can be picked up in the the early years, as early as 4-5. If a girl child is shorter than average, parents should check and ask for chromosomal anomaly testing. They should then see a paediatric endocrinologist. While there is no sure, Turner syndrome can be treated”.