Turner Syndrome

Turner syndrome, also known as Turners syndrome or Ullrich-Turner syndrome is a disorder affecting girls which prevents them from maturing. It’s caused by a problem with a girl’s chromosomes, though having a family history of this disease does not put one at increased risk. There is no known action of the mother or father that could cause or prevent this disorder either. It occurs randomly and is not associated with any known risk factor. Turner syndrome may be diagnosed before birth, at birth, during childhood or once the girl reaches adulthood.

There are two types of Turner syndrome:

  • One in which an X chromosome is completely missing in a girl child

  • The other in which the X chromosome may be there, but there are abnormalities on it

Turner syndrome is a rare disorder affecting about 1 in every 2,500 girls on average. Girls affected by this disorder are short and have not matured sexually, though the symptoms may vary from one person to the other. Management of Turner syndrome requires a collaborated effort from a variety of healthcare professionals, as well as the patient’s family. With regular monitoring and the right care, girls can lead healthy, active lives.

Since Turner syndrome can be diagnosed at different stages of a girl’s life, the signs and symptoms will depend on your daughter’s age. The most noticeable symptom of a slow or decreasing rate of height growth is usually observed between four to six years of age. 

Before birth, the following symptoms may be observed in your daughter’s pre-birth ultrasound:

  • Fluid collection at the back of the neck

  • Abnormal kidneys

  • Abnormal heart beat

The following signs and symptoms may be noticed at birth or during infancy:

  • Thick neck

  • Lower than normal weight

  • Small lower jaw

  • Broad chest with widely spaced nipples

  • Low set ears

  • High roof of the mouth

  • Low hairline at the back of her neck

  • Increased brown moles on the skin

  • Short fingers and toes

  • Arms turning outwards at the elbow

  • Swelling of hands and feet, especially at birth

  • Smaller than average birth height

  • Delayed growth

  • Finger nails that turn upwards

  • Eyelids that droop

​In older girls, the following are general signs and symptoms:

  • Short stature, with height shorter than the expected height of a female family member

  • Learning disability, particularly with spatial concepts and maths

  • No noticeable growth spurts during childhood

  • Affected sexual development and no changes associated with puberty without treatment, as Turner syndrome affects the ovaries

  • Other health problems may appear, such as kidney problems, heart problems, overweight, hearing difficulties, diabetes, and thyroid problems

  • Early end to menstrual cycles, not due to pregnancy

  • Poorly developed breasts

  • Sparse pubic hair

  • Vaginal dryness

Most women affected by Turner syndrome are not able to have children without fertility treatments. ​

Prompt diagnosis and treatment of Turner syndrome at a young age when the girl is still growing can help her grow further. Therefore, if you suspect that your daughter is exhibiting the above signs and symptoms, you must see a paediatrician working with the Children’s Hospital Service Line of The Aga Khan University Hospital immediately for further diagnosis to be made so that proper care and treatment can be started. 
Your time with your doctor may be limited, so make sure to prepare for your visit beforehand. Here are some tips to help get you started.

Early diagnosis of Turner syndrome is important to help your daughter grow as normally as any other girl her age. The doctor will take a medical history and conduct a physical examination to identify any specific symptoms of this disease. 

Before birth, foetal ultrasounds may not give an exact indication of Turner syndrome as many babies with this disorder may look the same as those without it. In fact, it is possible that no clear signs may be noticeable till your daughter reaches the age of puberty. 

When Turner syndrome is suspected, a special blood test, called karyotype, is requested for diagnosing Turner syndrome. This is a very accurate test which involves counting the number of chromosomes in white blood cells and observing any abnormalities. Before birth, a sample of the amniotic fluid will be taken for this test. 

Other tests may also be requested for further analysing how the body has been affected, such as ECG, ultrasound of the reproductive organs and kidneys, as well as MRI of the chest.  

A number of specialists will be involved in the diagnosis and treatment of Turner syndrome, such as hormone disorder specialists, cardiologists, orthopaedist, psychologist dental specialist and clinical geneticist. The Children’s Hospital Service Line at The Aga Khan University Hospital is a multidisciplinary paediatric healthcare unit with various paediatric specialists your child may need to see for Turner syndrome. Our dedicated staff will guide you thoroughly from diagnosis to treatment and management of your daughter’s symptoms.​

Growth hormone and female hormone (oestrogen) therapy is the usual treatment plan for managing symptoms of a girl with Turner syndrome. Treatment will be specialized to your daughter as per the symptoms exhibited, for instance medications for high blood pressure, heart problems, diabetes and thyroid problems will be given if needed. Though present, chances of having a child are very low for women with Turner syndrome and they may consider in vitro fertilization or adoption. 

Regular check-ups and follow up with specialists will help improve the quality of your daughter’s life, as will maintain a healthy weight and exercising. 

At The Aga Khan University Hospital, Karachi, our healthcare staff understands the physical and emotional challenges girls face when they have Turner syndrome. Our paediatric specialists at the Children’s Hospital Service Line of The Aga Khan University Hospital will work with your family as a team, and will always be there to help at every step of the way.​

The Aga Khan University Hospital offers various support services to help with managing or recovering from the disease or condition. These include but are not limited to nutrition, physiotherapy, rehabilitation, specialized clinics and some patient support groups. Your doctor or nurse will advise you accordingly.

The Aga Khan University Hospital offers financial assistance to those who are in need and fulfil the eligibility criteria. For further information, you can contact the Patient Welfare Department. You can find the contact number of the Patient Welfare Department in the ‘Important Numbers’ section on the website homepage.

The financial counselling staff is available during office hours, at the main PBSD (Patient Business Services Department), to answer your financial queries on treatments’ costs and authorize admissions on partial deposit as per hospital policies allow. The financial counsellor in the emergency room is open 24/7. You can find the contact number of the Patient Business Services in the ‘Important Numbers’ section on the website homepage.​

Your doctor and or nurse will give you specific instructions about the prescribed medication. Please ensure that you take or use the prescribed medicine as advised. It can be dangerous to your health if you self-prescribe. Please inform the doctor or nurse beforehand if you have experienced any adverse reactions to any medications in the past. If you experience any symptoms of drug poisoning, overdose or severe reaction please contact the Pharmacy Service at The Aga Khan University Hospital immediately. You can find the contact number of the Pharmacy Services in the ‘Important Numbers’ section on the website homepage.

​The information provided on our website is for educational purposes and not intended to be a substitute for medical advice, diagnosis or treatment. You should always seek the advice of your doctor or other healthcare professional provider.