Frequently Asked Questions

It is a genetic condition that affects only females. The Syndrome results from a partial or completely missing X chromosome, causing various health and developmental complications.

No. It is not a hereditary condition but a congenital condition (present from birth). TS occurs right at the cell division stages. It is a random occurrence where the X chromosome is structurally altered or is partially missing.

TS can be diagnosed before and after birth. Prenatal scans help detect TS in the foetus. After birth, a karyotype blood test, which analyses chromosomes, helps diagnose the condition.

Generally, Turner Syndrome manifests as:

• Heart and kidney-related abnormalities
• Learning difficulties, particularly in math
• Delayed onset of puberty
• Infertility
• Spatial reasoning
• Short stature

Teens and pre-teens with TS may have stunted growth and may not attain puberty spontaneously because their follicles cannot produce enough ovaries.

However, they can attain puberty and achieve the required growth with hormonal therapy.

Individuals with Turner Syndrome are vulnerable to

• Congenital heart defects such as the coarctation of the aorta
• Kidney malformations

These conditions often necessitate life-long medical monitoring.

Short stature and delayed puberty are common in Turner Syndrome. Hypothyroidism and insulin resistance are the common hormonal issues that occur in individuals with TS. These hormonal disturbances make them prone to diabetes, which is why they may require routine endocrine tests to keep the hormones in check.

Since TS inhibits ovarian development, most women with this condition may face infertility issues. However, some women may still achieve pregnancy through assisted reproductive techniques such as egg donation.

Growth hormone therapy helps increase the final adult height, which is a blessing for girls with TS, who are short-statured because they lack genetic growth factors.

Yes, they are highly prone to osteoporosis because of the low estrogen secretion. This is one of the reasons why Hormone Replacement Therapy (HRT) and adequate calcium intake are essential for women with TS.

Although Turner Syndrome makes the person vulnerable to acquiring cardiovascular disease, they can have a near-normal life expectancy with proper medical care and ongoing support. 

While cognitive abilities are usually within normal limits, some individuals may experience difficulties learning and understanding mathematics and spatial reasoning. Social interaction can also be quite challenging. 

While ovarian insufficiency can hinder the chances of pregnancy in women with TS, assisted reproductive techniques offer options for those wishing to start a family. 

Adopting a healthy lifestyle, which includes a balanced, nutritious diet, regular exercise, routine heart monitoring, and hormone replacement therapy, can significantly improve quality of life and prevent complications.

Parental support is significant in helping children with TS overcome their physical challenges. Early medical intervention, constant emotional support, encouragement, and opting for special education can ensure their child receives the necessary resources to thrive.

Medical advancements have made it possible to detect TS during prenatal screening. After birth, doctors may look for physical telltale signs such as lymphedema or accumulation of lymph fluid in the body. Sometimes, the condition becomes evident in later childhood and adolescence when growth delays become apparent.

Recent research yields better results in hormonal therapies, cardiovascular treatments, and fertility treatments. These advancements show promising outcomes for TS patients.

Lifelong medical follow-up is a must for individuals with TS because it helps manage critical health aspects such as:

• Heart health
• Bone density
• Hormonal levels

Regular health monitoring also facilitates early detection and intervention to improve medical outcomes.

Estrogen therapy plays a vital role because it helps induce puberty, maintaining bone health, and supporting overall well-being. Starting estrogen therapy at the right age can aid in developing secondary sexual characteristics and improve quality of life.

Turner Syndrome is a chromosomal disorder characterised by the absence or structural alteration of one of the X chromosomes. It is not inherited and results from random genetic events during cell division.

Understanding this condition and its challenges fosters early diagnosis and better treatment options, which can lead to a better quality of life for those affected by TS.

A common misconception is that TS solely affects a person’s intelligence, which is inaccurate. The truth is that individuals with TS can have a wide range of cognitive abilities. Another myth is that all individuals with TS are infertile. On the contrary, some women can conceive with medical assistance.

Yes. Organisations like the Turner Syndrome Society offer support, education, and community connections for individuals and families affected by TS.

Families can connect with others affected by Turner Syndrome through online forums, local meetups, and national TS organisations. Sharing experiences can provide comfort and practical advice on medical care and emotional challenges.

The prime objective of the Turner Syndrome Foundation is to create awareness about this condition, improve access to medical care, aid research, and garner support for individuals with TS. We aim to achieve these goals through educational programs, advocacy, and collaborative efforts.

Our society bridges the gap between TS patients and their families with healthcare professionals. We provide resources and community support and create awareness through public campaigns.

The Turner Syndrome Registry plays a vital role in compiling and maintaining medical data from individuals with TS. This data facilitates advanced research for TS treatment, enables better medical outcomes, and aids in developing effective healthcare guidelines.

Patients and their families can greatly benefit from enrolling in the registry and contributing to medical research. In exchange, they gain access to the latest advancements in TS care and benefit from tailored health recommendations based on individual needs.

Individuals with TS can benefit from the following services at the Turner Syndrome Clinic:

• Ongoing growth monitoring
• Hormone therapy
• Fertility counseling
• Psychological counselling and support
• Cardiac health screening

Unlike general clinics, a dedicated TS clinic ensures multidisciplinary care for patients with this condition. The specialised clinic functions under the expertise of cardiologists, endocrinologists, and geneticists who can provide targeted treatments and personalised support.

People are welcome to donate generously to the Foundation. These donations are utilised for:

• Medical research
• Patient education
• Awareness campaigns
• Genetic testing
• Hormone therapy
• Financial support for patients

People can also support the Foundation by volunteering in awareness campaigns and participating in fundraising events, medical care, and community support programs for Turner Syndrome.

Of course. Businesses and organisations can sponsor events, provide grants, or collaborate on awareness campaigns to help support the cause.

For further information, to donate or participate, please click this link.