Parents of a girl with Turner Syndrome usually first suspect something is wrong when their daughter’s peers start to outgrow her. — Filepic
When 10-year-old Emilia was still wearing the same uniform size she had worn at age seven, her parents began to worry.
At first, they brushed it off; perhaps she was just growing at her own pace.
But when her cousins, all younger than her, started to outgrow her in height, and she still hadn’t shown any signs of puberty near the age of 12, her mother knew it was time to see the doctor.
At the clinic, the paediatrician noted her height from her growth chart and referred her to a paediatric endocrinologist.
A simple genetic test later, the diagnosis was clear: Emilia had Turner Syndrome.
With this early detection, she could begin on growth hormone therapy, which helps her grow taller, as well as hormone replacement therapy to help her enter puberty.
With regular monitoring of her heart and kidney health, her doctors are able to address potential issues before they become major concerns.
With the right medical care, Emilia is on track to grow and develop more typically than she would have without interventions.
Affecting only females
Turner Syndrome is a genetic condition that only affects females.
Females typically have two X chromosomes (XX), but girls with Turner syndrome only have one X chromosome (XO) or are missing part of one of their X chromosomes.
Turner Syndrome affects multiple systems in the body, including the heart, kidneys and thyroid, as well as those involved in growth, puberty and hearing.
It occurs in about one in 2,000 to 2,500 live births, and early diagnosis and intervention can make a world of difference.
Although every case of Turner Syndrome is unique, the condition often presents with certain common features.
Most cases are not inherited, meaning that it is not passed down from parents, but rather, happens randomly during the formation of reproductive cells.
It is not caused by anything a girl’s parents did or did not do.
The first clues
One of the most consistent signs of Turner Syndrome is short stature.
Most girls with the condition begin to fall behind on the growth chart by age two to four years old.
They may grow slower than their peers and remain noticeably shorter without intervention.
Unlike some other causes of short stature, girls with Turner Syndrome do not catch up naturally.
Untreated girls with Turner Syndrome are on average 20cm shorter than their peers.
That’s why early tracking of height and referral to a paediatric endocrinologist is so important.
Early treatment with growth hormone can help to improve final height.
Growth hormone treatment will no longer work if the growth plates at the ends of the bones have fused.
Another telltale sign of Turner Syndrome is the lack of pubertal development.
Many girls do not develop breasts or begin menstruation without hormone replacement therapy.
This is because their ovaries fail to function properly.
Any girl who has no sign of breast development by the age of 13 years or menses by 15 years, must always be evaluated promptly.
Unlike in adults, it is essential that hormone replacement therapy for puberty in growing children be started slowly.
The starting oestrogen dose must be low to allow for gradual development of the breasts and uterus,
Rapid closure of the growth plates due to the effects of oestrogen also need to be avoided.
While every child is different, many girls with Turner Syndrome may also show signs such as:
- Specific facial or physical traits, like a low hairline, webbed neck, broad chest and widely-spaced nipples
- Heart conditions, especially those affecting the aorta
- Kidney abnormalities
- Hearing and eye issues
- Thyroid issues
- Bone issues
- Mild learning difficulties, often with maths or spatial awareness (but their IQ is usually normal).
Because not all signs are visible, growth delay during early childhood remains one of the most important red flags.
Why early detection matters
The sooner a diagnosis is made, the more options are available.
Early treatment helps girls:
- Reach a more typical adult height with growth hormone therapy
- Begin puberty in a timely manner with hormone replacement therapy
- Monitor and manage associated conditions early on.
Paediatric endocrinologists play a key role in this journey as they are the medical specialists in children’s growth, puberty and hormones.
Through clinical examinations, growth tracking, hormone tests and genetic screening, they can identify Turner Syndrome and guide families with the next steps.
Turner Syndrome may come with emotional challenges, especially when affected girls feel different from their peers.
That’s why psychosocial support, school accommodations (if needed) and open conversations at home matter just as much as medical care.
Turner Syndrome is a lifelong condition, but with early diagnosis and the right care, girls can live full, healthy and confident lives.
If you are concerned about your daughter’s growth or lack of puberty, trust your instincts and seek the help of a paediatric endocrinologist.
Dr Jeanne Wong Sze Lyn is a consultant paediatrician and paediatric endocrinologist. For more information, email starhealth@thestar.com.my. The information provided is for educational purposes only and should not be considered as medical advice. The Star does not give any warranty on accuracy, completeness, functionality, usefulness or other assurances as to the content appearing in this column. The Star disclaims all responsibility for any losses, damage to property or personal injury suffered directly or indirectly from reliance on such information.
