Turner’s Syndrome- Symptoms, Causes, & Treatment

Paediatrics | Posted on 07/18/2023 by Dr. J. P. Dadhich

Introduction

Living a life with Turner’s syndrome can lead to presenting different challenges for the patient, both emotionally and physically. For instance, it can cause issues like self-esteem, societal difficulties, etc. while probable infertility because of underdeveloped ovaries can cause a deep impact on a female’s life. To add to that, it doesn’t end here, there are medical intricacies also linked to Turner’s syndrome that need special care and constant monitoring for optimal well-being and health. 

It is important to acknowledge the immense strength and will of people with Turner’s syndrome even after experiencing the challenges. You can book your appointment with best Paediatrics in Jaipur at Rukmani Birla Hospital in Jaipur, one of the best multispecialty hospitals ensuring their complete support to people with Turner’s syndrome.

In this blog, we are going to explore the symptoms, causes, diagnosis, and options for treatment related to Turner’s syndrome. Kindly remember that the information given in the blog doesn’t construe with the consultation of a doctor in any way.

What is Turner’s syndrome?

Turner’s Syndrome, a genetic disorder is also known as congenital ovarian hypoplasia syndrome. This is among the most common abnormalities of sex chromosomes affecting females and girls. It is an issue with one of the two x-chromosomes to be specific. DNA is obtained from the parents containing particular elements which make every living being different. 

Turner's Syndrome is a congenital condition which means an individual is already born with it. Humans are born with two chromosomes. So, if a child is female, there are two X chromosomes, whereas males are born with one X and one Y chromosome. Turner syndrome happens if one of the x chromosomes is missed, completely or partially.

People with this condition can live a normal life but require constant monitoring and medical supervision for treating complications.

What are Turner’s syndrome symptoms?

One of the main Turner’s syndrome symptoms is short stature. Other than this, there are many symptoms that are experienced by individuals with this condition. Here are some of them: 

• Growth is slower than in other humans during childhood and adulthood. 
• Puberty is delayed 
• Lack of growth spurts 

There are symptoms linked to sexual growth in people with Turner’s syndrome which include:

• No breast development 
• Absence of menstruation or not at all 
• Small ovaries which might function for some years only 
• No sex hormones development 
• No puberty without hormonal therapy

Women with Turner’s syndrome usually have physical attributes besides short stature. These traits are the reflection of symptoms only for the condition:

• Small lower jaw
• Wide neck or webbed neck
• The knuckle is missing in a toe or finger 
• Low hairline 
• Skin moles 
• Scoliosis 
• Eye issues like drooping eyelids or lazy eye 
• Cubitus valgus
• Dental issues 
• Hands and feet swelling

What are Turner’s syndrome causes?

Turner’s Syndrome happens when one of the two X chromosomes is missing or incomplete in a female body. Researchers are still trying to figure out the actual Turner syndrome causes and how it occurs. 

It is not an inherited condition and occurs during the growth of a baby in the womb. There is no link between the mother’s age or any other factor for why it occurs.

What are the complications of Turner’s syndrome?

Individuals with Turner’s syndrome are expected to be at a high risk of experiencing certain medical conditions. However, these conditions are manageable with consistent monitoring and checkups. Here are the complications that might occur because of Turner’s syndrome: 

• Kidney anomalies 
• High blood pressure 
• Hypothyroidism 
• Celiac disease 
• Heart anomalies 
• Lymphoedema

How is Turner’s syndrome diagnosed?

To diagnose Turner's syndrome, prenatal genetic testing is performed before birth. The condition is detected through a lab procedure which is known as karyotyping. It can help in identifying if the chromosomes in the mother have any genetic anomalies. 

The doctor might also involve tests for understanding the physical Turner’s syndrome symptoms. Here are these tests: 

• Blood tests for identifying the levels of the hormone 
• Echocardiogram for examining the heart defects 
• Pelvic evaluation
• Ultrasound of kidney and pelvic 
• MRI scan-chest

What are the options for Turner’s syndrome treatment?

Turner’s Syndrome treatment usually involves focusing on hormonal treatment. Here are some options which are often used to treat TS: 

• Human growth hormone- This treatment option involves human growth injections which help in increasing height. These shots can enhance the final height of people with Turner’s syndrome by several inches if treatment is started early. 
• Estrogen therapy- People with Turner’s syndrome require estrogen which is a female hormone. This hormone replacement type assists girls with breast development and start periods. It also helps them with uterus growth to its normal size. Brain growth, heart function, liver function, and skeletal growth are also improved with this therapy. 
• Cyclic progestins- These are hormones that are usually added at 11 or 12 years if there is a deficiency according to the blood tests. Progestins help in inducing cyclic menstrual periods. This treatment begins with a low dosage often and then is increased for simulating normal puberty gradually.

Conclusion

Turner’s Syndrome is among the rare conditions caused by one of the x-chromosomes missing or incomplete. It mainly affects females and can involve significant symptoms. But, with early medical intervention and management, it can help people to lead normal and healthy lives. Regular checkups and monitoring help in keeping the symptoms in check. You can consult a paediatrics at Rukmani Birla Hospital in Jaipur for the management and treatment of this condition if you are diagnosed. You will discover the most experienced and highly talented clinical experts here. 

FAQ -

 

How many chromosomes does an individual with Turner syndrome have?

Usually, an individual has 46 chromosomes but an individual with Turner's syndrome has 45 chromosomes. 

Is Turner syndrome more common in one ethnicity?

No racial or ethnic factor is linked to Turner’s syndrome. 

Can a woman with Turner syndrome get pregnant?

It can be difficult for a woman with Turner's syndrome to get pregnant but there are assisted reproductive technologies that might help in conception. This condition can lead to causing infertility in the majority of patients.