Growing up, Anusiny Janarthanan never gave too much thought to her short stature as she assumed it was familial.
After all, both her parents are short. Her older sister, though a little taller than their mother, stands at 155cm.
“It wasn’t until I was around 14 and stood at 125cm that my mother, who is a nurse, realised something could be wrong with me as I wasn’t growing or developing very much.
“After speaking to some doctors at her workplace, she took me for a blood test at a public hospital and I was diagnosed as having Turner syndrome,” says the bubbly 20-year-old sound engineering student from Kuala Lumpur.
Turner syndrome is a type of dwarfism that affects only females.
Most people are born with two sex chromosomes.
Boys inherit the X chromosome from their mothers and the Y chromosome from their fathers.
Girls inherit one X chromosome from each parent.
In girls who have Turner syndrome, one of the X chromosomes is missing, partially missing or altered.
Left untreated, the condition can cause a variety of medical and developmental problems, including short height, failure of the ovaries to develop and heart defects.
Considered a late diagnosis, Anusiny was immediately started on treatment comprising growth hormone injections and oestrogen therapy to trigger puberty.
This enabled her to grow another 17cm to 142cm.
At 17, her doctor stopped the injections as she had attained her maximum potential height, although she will have to continue with oestrogen therapy until she reaches menopausal age.
“People still assume that I’m below 12 years old because that’s how I look,” she says, laughing.
“On the bright side, every time I go to the cinema, they think I’m a child and I get a discount!
“I’m blessed that my friends accept me as I am, though they sometimes unintentionally poke fun at my height.
“I do get jealous when I see girls who are taller than me, but I tell myself it’s OK.
“When people ask me why I’m so short, I just tell them it’s genetic; I don’t tell them I have a medical condition.”
What she really wants to do is get her driving licence, but that would entail modifying the car’s interior.
In the meantime, Anusiny is content with her father driving her around.
Late discovery
Your height is largely determined by your genes and nutritional intake during your growing years.
If someone is short despite having tall parents and good nutrition, then that’s a cause for concern.
Turner syndrome is a condition that is easy to miss as girls who have it often grow normally before their growth rate starts to slow around the age of five and their short stature becomes noticeable.
The characteristics of this syndrome includes short stature (98%); delayed menses/puberty (95%); wide carrying angle of the arms (47%); eye problems e.g. myopia and strabismus (45%); short neck (40%); heart defects and/or hypertension (40%); ear problems e.g. recurring otitis media (30%); abnormal kidneys (25%); multiple naevi/moles (25%); webbed neck (25%); abnormal nails e.g. pitting or upturned nails (13%); and scoliosis (11%).
Turner syndrome affects one in every 2,500 female babies.
In Malaysia, over 240,000 female babies were born in 2018; hence it is likely that close to 100 girls with this syndrome were born in that year alone.
The affected girl’s short stature often goes undetected until she fails to go through puberty.
“Parents, especially if they are also short, tend to overlook this.
“Unfortunately, the majority of them consult us late, i.e. when their daughters are already in their early or late teens.
“A small proportion come in early because the clinical symptoms are very obvious, while another small proportion are diagnosed while in-vitro when the pregnancy is considered high risk due to recurrent miscarriages, so the obstetrician/gynaecologist carries out some tests to look out for certain syndromes.
“It can also be diagnosed in infancy as the child may have congenital heart problems,” says consultant paediatric endocrinologist Assoc Prof Dr Azriyanti Anuar Zaini from University Malaya Medical Centre.
Approximately 30% of individuals with Turner syndrome are reported to have bicuspid aortic valves, meaning that the major blood vessel from the heart (the aorta) has only two, rather than three, components in its valve regulating blood flow.
This cardiovascular condition can have grave outcomes, especially if it is not diagnosed.
Other consequences of this syndrome include risk of ovarian failure, obesity, type 2 diabetes and hypothyroidism.
Attaining normal height
The average height of an adult Malaysian woman is around 154-155cm, while females with Turner syndrome are usually 20cm shorter.
Assoc Prof Azriyanti says, “This would be equivalent to 135cm, which is the height of a nine- or 10-year-old child.
“If your child is still at this height in her teens, something is not right.
“She could also have a mild heart defect, but look normal.
“While children are growing, they will usually see a paediatrician who will plot their growth chart.
“But in Malaysia, the follow-up is only until the child is two, when the (compulsory) vaccinations are completed.
“After that, parents tend to bring them to different doctors so the growth is not measured.”
She adds that although parents like to compare their children, and thus, have a good instinct that a particular child might not be growing normally, it is usually a bit too late.
“The earlier the treatment is administered, the better the outcome,” she says, adding that the confirmatory test is a simple blood test to check the child’s chromosomes.
Treatment comprises growth hormone therapy to increase height as much possible during early childhood until the early teen years.
Explains Assoc Prof Azriyanti: “These nightly growth hormone injections are administered by the parents and are similar to insulin pens.
“Growth hormones do not affect other body parts and is titrated (continuously measured and adjusted) slowly.
“We have to make sure there is a balance so that they don’t grow too fast and end up with crooked bones.
“They are monitored every three months and treatment concludes roughly two years after menarche (the first menstrual cycle) or when puberty is completed, maybe around 16.
“If they come in at 16, then we can still try until they are 18 before stopping the injections.
“We hope that by 16 or 18, they will be able to reach at least 155cm.
“Of course, we also look at the mom and dad’s height to gauge how tall they might grow.”
She adds that these children are usually managed by a multidisciplinary team of specialists to cover their different medical problems.
Oestrogen for life
In addition, most girls with Turner syndrome require oestrogen and related hormone therapy in order to begin puberty, around the age of 11 or 12.
Oestrogen helps to promote breast development, improve the size (volume) of the uterus and helps with bone mineralisation.
Assoc Prof Azriyanti explains, “Children with Turner syndrome cannot produce oestrogen normally as their ovaries are abnormal.
“Because of that, most of them are infertile.
“If they come in at the age of nine or 10, we top up treatment with oestrogen therapy to change their bodies to that of a young woman and to prevent osteoporosis.
“After the age of 20, they will be transferred to the obstetrician/gynaecologist to manage their oestrogen treatment.
“They might need some contraceptive pills as the oestrogen levels are higher in pill form.
“If the induction of puberty is done properly, we titrate the oestrogen slowly over four years,
hoping the uterus will form as normal as possible so they will bleed regularly.”
She adds: “We hope reproductive science in a decade will enable them to conceive.
“For the ones who can get pregnant, there is a high risk of miscarriages.
“They will menopause early and the risk of breast cancer is there.”
The specialist acknowledges that treatment is expensive.
If the child is treated at a Health Ministry hospital, her parents can apply for the limited funds offered by the government, provided they meet certain criteria.
The treatment cost depends on the weight of the child, and is around RM2,500 a month for a teenager at government hospitals.
For an infant, it’s around RM500 as the dosage required is less.
Unfortunately, Turner syndrome is not covered by insurance as it is deemed congenital.
What troubles Assoc Prof Azriyanti more are the psychosocial issues associated with the syndrome, which include low self-esteem, predisposition to age-specific problems, isolation and depression.
She notes: “Turner syndrome girls have to put up with bullying; they have less chances of getting good jobs and partners.
“It’s also harder for them to reach the pedals when they drive.
“We don’t want them to feel inadequate!”
Parents, be observant
For parents, she offers some tips.
She notes that if the nutrition is right, children will grow normally.
“Parents are often reluctant to talk to children about physical or sexual maturation,” she says.
“Moms must be able to recognise secondary sexual characteristics in their daughters, i.e. the breasts should start developing around the ages of nine, 10 or 11.
“If there are no breasts at 13, then something is wrong and you need to bring your child to a doctor.”
Assoc Prof Azriyanti adds: “For those being treated, parents are usually diligent about following-up and the doses are optimised at every visit.
“The ones that don’t come would have refused treatment from the very beginning, either because the cost is too expensive or they believe growth hormones can cause cancer.
“These are the types that will say no to everything and don’t allow us to help their child!”
Using growth hormone injections to treat Turner syndrome yields excellent results, compared to treating children for growth hormone deficiencies, but the doses are doubled in Turner syndrome.
“Maybe 1-2% of patients don’t quite grow as anticipated,” she says.
“The oldest patient I have is 18 and is 130cm.
“She went to see the obstetrician/gynaecologist because she never got her periods, and was then referred to me.
“At that age, it’s a bit difficult to treat as we cannot give growth hormone injections anymore, only oestrogen replacement therapy.”
She also advises Turner syndrome patients to stay active physically.
“Many of them tend to be obese, so it’s good for the child to do appropriate exercises, especially weight-bearing ones that can help with bone health and growth.
“My tallest patient after treatment is 150cm, and that is almost at the national average height,” she says.
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