Turner Syndrome Foundation
Intro
Much of the Turner Syndrome Foundation’s (TSF) focus is on helping individuals with Turner Syndrome (TS) manage their health challenges. However, with the pandemic highlighting the power of spreading awareness and sharing research to overcome global health challenges, we decided to change our approach.
Written by a collaborative team of medical researchers and professionals, this article discusses TS diagnosis and treatment in other countries–specifically, India and Russia–how they compare to the U.S., and what the international community can learn from different approaches to TS.
"Medical science has proven time and again that when the resources are provided, great progress in the treatment, cure, and prevention of disease can occur."
TS Diagnosis and Treatment in India: An Overview
TS affects 1 in 2,000 female births. In India, a large number of TS patients unfortunately go undiagnosed, and some diagnosed patients often do not follow up. Hence, there is a shortage of clinical data. The revisiting patients are not treated according to Western standards, as there is a lack of financial and social support. Most of India’s studies about TS are observational studies, with data taken from the medical records of patients who visit endocrinology clinics.
India's Common TS Symptoms and Diagnoses Procedures
The most common TS symptoms in India are delayed puberty and short stature. Other symptoms include primary amenorrhea, estrogen insufficiency, and heart malformations. Patients with TS are also at increased risk for:
● psoriasis,
● juvenile idiopathic arthritis,
● type 1 diabetes,
● adrenocortical deficiency,
● osteoporosis, and
● Inflammatory Bowel Disease (IBD).
In India, mortality in patients with TS under 15 years of age is four times the average mortality rate, mainly due to heart disease.
TS is most commonly diagnosed by karyotyping of peripheral blood samples. The mean age for diagnosis in India is 11.7, plus or minus 5.2 years. It is often delayed due to neglect or a lack of clinical expertise.
Treatment Options for TS in India
A review of literature over the past decade includes observational studies (Inderpal Singh, et al, 2018; Maiti, et al, 2014; and Pendekanti, et al, 2020) of female patients diagnosed with TS, including those who were treated with growth hormone therapy (GHT).
Studies in India report that girls who had GHT had good height gain with very few side effects. In the last decade, most of these studies were performed in the endocrinology departments of India’s leading hospitals and had similar conclusions. TS patients with tall parents, a taller height at the start of GHT, and–most importantly–who start GHT earlier, and thus have extended treatment, generally have better height outcomes.
Another therapy discussed in these studies is estrogen replacement therapy (ERT), which helps to develop the uterus and secondary sex characteristics. ERT also helps improve bone mineralization and can help boost height. However, the high cost of this therapy and GHT and the requirement for recurrent visits have significantly affected their accessibility for Indian patients with TS.
Overall, there is a lack of treatment options and psychosocial support for TS patients in India. There is a need to create awareness about the condition so that patients do not remain undiagnosed and are given supportive care throughout their lives. Healthcare professionals must be trained to provide support focused on general coping strategies, adaptive skills, stress management, self-esteem improvement, and practicing an active lifestyle.
Future Prospects for India's TS Community
There is a need for creating awareness about TS in India among the general population. Unfortunately, a few years back, it was considered taboo to treat–let alone talk about–genetic conditions like TS in India. If diagnosed, most patients either did not visit doctors or kept it under wraps. This is because TS is a genetic, developmental condition that only affects female births. For a long time, there was no support group for the patients in India. However, this has been changing, as there have been some developments recently for creating much-needed awareness about the topic.
The MAGIC Foundation – India is an offshoot of America’s MAGIC Foundation and has a patient and family support group for children with growth disorders. They recently organized a conference in Bengaluru for patients with TS and their caregivers and doctors.
Turner Syndrome India (https://www.turnersyndromeindia.org/) is another organization created to help spread TS awareness. It also provides free resources to patients and their families through events all across India. These events help patients connect with other patients and clinicians and share their experiences.
Events and organizations like these are steps in the right direction. Over time, they will help educate people and change their perspective on genetic disorders like TS. Healthcare professionals must educate people about TS and recommend karyotype analysis early for all female patients with unexplained short stature, delayed puberty, webbed neck, lymphedema, or coarctation of the aorta. They must also assure families that TS patients can lead happy and healthy lives in all aspects if properly monitored and managed.
TS Diagnosis and Treatment in Russia: An Overview
In Russia, TS is a well-known condition among pediatricians and pediatric endocrinologists. Endocrinologists generally coordinate healthcare for patients with TS. Russia is a big country, and there are regions where patients do not have the same level of healthcare they would in central regions of the country and big cities. Many times, patients must travel to regional centers for consultations and to receive diagnosis and treatment. This can lead to delays, especially when patients do not present with typical clinical symptoms.
Russia's TS Diagnosis Process
Medical geneticists usually perform diagnostic tests. Karyotype analysis is widely used to diagnose TS. In Russia, many patients with TS do not receive a diagnosis until puberty. Often, growth delay is considered as a variant of normal development, without appropriate investigation into the reason behind it. Because of this, many TS patients do not receive proper care. Simple guidelines regarding whom to screen for TS and when could improve the quality of care for such patients.
Therapies in Russia for Turner Syndrome
GHT is available for TS patients in Russia, but unfortunately, it is not covered by universal health insurance in all regions of the country. However, treatment is available without any fee for patients with documented disabilities. Parents can choose the GHT medication or its generic equivalent from European, U.S., and Russian manufacturers. Some pediatric endocrinologists do not recommend the therapy widely because of the side effects of the medication. There is no “gold standard” among the providers for when to start the therapy and who should receive it.
TS is also commonly treated with ERT in Russia. The therapy starts in puberty for girls ages 12 and up. Doctors generally recommend Progesterone be added no sooner than two years after starting ERT. Additionally, some providers recommend calcium supplements to prevent osteoporosis.
Adult patients with TS can get an annual check-up at endocrinology research clinics in major cities in Russia. Usually, they can stay in the clinic overnight to receive all required care. All tests and hospitalizations are covered by universal health insurance. In such clinics, doctors and staff are very familiar with TS patients. Also, patients with TS who have a documented disability are eligible for some benefits such as treatment, special education, and economic assistance.
Future Prospects for Russia's TS Community
The general Russian population is not very familiar with TS. Families and patients with TS often prefer not to talk about their diagnosis. Such an approach does not help increase awareness about TS. Parents and patients do not have access to an official organization to help with advocacy and education. Instead, they use Internet forums and social media platforms to discuss issues related to TS. Unfortunately, in Russia, non-profit organizations are not common yet. It is believed that the government should take care of the people, but such an approach has many limitations. A TS organization could discuss the needs of patients and families directly with government representatives. Hopefully, this situation will change in the future.
TS Diagnosis and Treatment in the U.S.: An Overview
TS occurs in approximately 1 out of every 2,000 live female births, affecting all ethnicities and nationalities. There is no known environmental factor associated with the occurrence of TS.
TS Diagnosis in the U.S.
Diagnosis of TS in the U.S. begins with clinical suspicion and is confirmed by a chromosomal analysis (karyotype). U.S. physicians are becoming increasingly aware of the signs of TS and when to entertain the diagnosis. This is largely thanks to increasing amounts of information coming from research studies, discussions among colleagues, and nonprofits. According to a recent article published in 2019, the average age of TS diagnosis in the U.S. is nine years old.
TS Treatment in the U.S.
Treatment of TS in the U.S. is multidisciplinary, due to the many organ systems that TS can affect. A primary physician, typically a pediatric endocrinologist, organizes and manages care from all needed subspecialists following diagnosis. Once a patient is diagnosed with TS, a pediatric endocrinologist manages GHT and hormonal replacement therapy (HRT) for them. They also help screen for other medical issues associated with TS and make the appropriate referrals.
Advantages to TS Treatments in the U.S.
One huge advantage for U.S. patients with TS has been the access to needed subspecialists. Although the survival of individuals with TS is reduced compared to others who match their age, especially because of heart disease, medical care in the U.S. largely exceeds that of other countries.
Another advantage that TS patients in the U.S. benefit from is the access that medical professionals have to research knowledge from other countries. The most recent example of this is the 2017 publication of “Clinical practice guidelines for the care of girls and women with Turner syndrome: proceedings from the 2016 Cincinnati International Turner Syndrome Meeting.” This publication was extremely impactful. Not only was it a joint collaboration in TS patient care between the U.S. and Europe, but it also provided an important and long overdue update to TS care overall.
Medical insurance coverage for TS patients has improved with Medicaid and other commercial insurances but still has a long way to go for optimal care. For example, hearing aids are not yet approved by most insurance companies.
Disadvantages to TS Treatments in the U.S.
Along with the lack of insurance coverage for optimal care, there are also some other needed improvements in the healthcare of TS patients. For example, more research is needed on issues affecting adults with TS, such as:
● At what age should HRT be discontinued?
● Are there any new options that could help TS women keep their fertility?
● How can medical professionals appropriately follow and evaluate the aorta for significant dilation?
Helping the Global TS Community Thrive and Excel : For Medical Professionals
TS is one of the most common chromosomal conditions affecting female births. The disorder is caused by a partial or complete loss (monosomy) of the second sex chromosome. There are a wide range of symptoms that affect TS patients, but the most common include short stature and ovarian health challenges, which can result in reproductive health challenges throughout puberty and adulthood. Obviously, there are many signs and symptoms that can challenge patients. Medical professionals need to focus more on treating their TS patients, so the global TS community can thrive and excel. They need to coordinate their efforts with a team of specialists, including:
● pediatricians,
● pediatric specialists,
● surgeons,
● cardiologists,
● endocrinologists,
● audiologists and speech pathologists,
● otolaryngologists (ENTs),
● ophthalmologists,
● psychologists, and
● other healthcare professionals to help systematically and comprehensively plan an effective treatment for a child with TS.
TS treatment depends on each patient’s specific challenges and development. Healthcare team members and physicians must make decisions concerning what medications and/or other treatments they should use, carefully consulting the patient and/or their family based upon their individual needs.
While there is still no cure for TS, with appropriate medical care, these patients can lead full, happy, and productive lives. There are some medications, including GHT and ERT, that can improve physical development. Height can be increased by taking human growth hormone injections, typically starting at about four years of age (or sometimes sooner if growth is significantly affected). GHT is continued until the epiphyses (the rounded end of long bones, at their joints with adjacent bones) close. GHT injections can increase the final height of TS patients by several inches, if treatment begins early enough.
Also, TS patients usually need ERT, which can help them begin menstruation and develop their secondary sex characteristics and reproductive system. ERT can also improve brain development, heart function, liver function, and musculoskeletal health. Cyclic progestin can be added at age 11 or 12 if blood tests note a deficiency. This therapy might be able to induce regular menstrual periods.
It is extremely crucial to screen for learning problems around one or two years old. Learning executive function skills (the mental processes that enable us to plan, focus attention, remember instructions, and juggle multiple tasks successfully) can provide a huge advantage for patients with TS. Tutoring and occupational therapy can help them function at their best in school and at home.
Working with a mental health therapist can help with social issues and low self-esteem, anxiety, and depression. A type of talk therapy called cognitive-behavioral therapy can improve a person’s quality of life.
Helping the Global TS Community Thrive and Excel : For Parents
As a parent, you may need to ask your medical provider some questions, like what treatment options your child may need, what the risks and benefits of GHT and other hormone treatments are, and what types of learning or developmental challenges your child might experience.
If a patient is diagnosed with TS, the following areas should be monitored throughout their life:
● hearing and ear health,
● blood pressure,
● thyroid health,
● glucose levels, and
● bone mineral density.
Remember that the key to taking care of a child with TS is always early diagnosis. Pay attention to your child’s growth and milestones. If you find they don’t seem to be growing as they should or you see them struggling with physical challenges, talk to your pediatrician. Having TS or living with someone affected by it is really normal and can be controlled by regular health checks and preventative care and treatment.
Some hospitals have dedicated TS clinics with a number of specialists, including pediatric endocrinologists; psychologists; gynecologists; geneticists; nephrologists; ear, nose, and throat (ENT) specialists; cardiologists; and obstetricians. Medical professionals at these centers work together to take care of TS patients because they are and always have been one of their greatest concerns.
Takeaways and Action Steps
- There is great progress being made globally towards hearing and addressing the TS community’s needs. Despite this, there are many areas on which we must work together to help the TS community in all countries and environments thrive. Some include increasing the amount of financial protections that help people with TS get proper treatment, raising more TS awareness globally, and encouraging more research focused on adults with TS and their specific challenges.
- As a medical professional, you can help the international TS community by becoming a member of our professional membership. The benefits are being able to use your expertise to write and speak about health and TS, having a network with other medical professionals passionate about spreading TS awareness, and having access to exclusive resources that will help you spread the word about TS in your office.
- As an educator, you can help the international TS community by using our webpage to learn how to better accommodate students with TS in your classroom. You can also help by becoming a member of our contact list to alert caretakers of children with TS that you are a resource who can help their child excel academically.
- As a researcher, you can help the TS community by collaborating with TSF, as many have done in the past, on your next research or school project. In doing so, you can help spread TS awareness within the research community as well as aid members of the TS community with dealing with their challenges.
- As a caretaker of someone with TS, you can assist the international TS community by sharing their diagnosis with others, if you are comfortable doing so, and learning as much as possible about TS and how you can help your child–and others with TS–thrive.
- If you are someone who wishes to make an impact in ways besides those described above, you can support TSF by making a donation, buying products from our online shop, attending/holding fundraisers, or financially supporting our partnerships with other businesses/organizations.
- Some non-financial ways to support the TS community include advocating for the TS community’s needs, signing TSF’s petition to increase the amount of government aid for the TS community, spreading TS awareness, and volunteering for TSF.
Written by Ruchika Srivastava, Valeriia Muradova, and Dr. Rama Sakkour, TSF volunteer blog writers and editors, and Dr. Mary Gwyn Roper, TSF Medical Advisory Board member. The article was also edited by Dr. Roper and Susan Herman, TSF volunteer lead blog editor.
Sources
Clinical
Non-Clinical
TSF Resources
P. Pendekanti, R. Palanki, P. G. N. V. Durga and P. Srinivasulu, (2020) Spectrum of Turner’s syndrome: Our experience, Journal of Dr. NTR University of Health Sciences,Vol. 9 Issue 4 Pages 236-236
K. Inderpal Singh, Recombinant Growth hormone response in Indian girls with Turner syndrome, (2018), International Journal of Clinical Endocrinology and Metabolism Pages 001-003
A. Maiti and S. Chatterjee, Turner Syndrome: Fifteen Years’ Experience in India, (2014), Journal of Obstetrics and Gynecology of India Vol. 64 Issue 1 Pages 121-123
Volevodz N.N. Federal clinical practice guidelines on the diagnostics and treatment of Shereshevsky-Turner syndrome. Problems of Endocrinology. 2014;60(4):65-76. (In Russ.) https://doi.org/10.14341/probl201460452-63
Benikova EA, Slavnov VN, Livinets LS. Somatotropnaia funktsiia gipofiza u bol’nykh s zaderzhkoĭ rosta [Somatotropic function of the pituitary gland in persons with growth disorders]. Probl Endokrinol (Mosk). 1976 Nov-Dec;22(6):47-50. Russian. PMID: 828257.
Zarubina NA, Golubeva IV, Bobrovskaia TA, Dobracheva AD, Konnova EV. Funktsional’noe sostoianie sistemy gipofiz-gonady pri agenezii i disgenezii gonad [Functional state of the pituitary gland-ovarian system in gonadal agenesis and dysgenesis]. Probl Endokrinol (Mosk). 1978 Jul-Aug;24(4):41-6. Russian. PMID: 683968.
Gravholt CH, Andersen NH, Conway GS, Dekkers OM, Geffner ME, Klein KO, Lin AE, Mauras N, Quigley CA, Rubin K, Sandberg DE, Sas TCJ, Silberbach M, Söderström-Anttila V, Stochholm K, van Alfen-van derVelden JA, Woelfle J, Backeljauw PF; International Turner Syndrome Consensus Group. Clinical practice guidelines for the care of girls and women with Turner syndrome: proceedings from the 2016 Cincinnati International Turner Syndrome Meeting. Eur J Endocrinol. 2017 Sep;177(3):G1-G70. doi: 10.1530/EJE-17-0430. PMID: 28705803.
Fuchs MM, Attenhofer Jost C, Babovic-Vuksanovic D, Connolly HM, Egbe A. Long-Term Outcomes in Patients With Turner Syndrome: A 68-Year Follow-Up. J Am Heart Assoc. 2019 Jun 4;8(11):e011501. doi: 10.1161/JAHA.118.011501. PMID: 31131660; PMCID: PMC6585378.
Michael J. Fox – Medical science has proven time and again… (brainyquote.com)
About the Founder-Turner Syndrome India
Schoolteacher with rare Turner’s syndrome makes a turnaround!-Times of India
Conference on Turner Syndrome for patients and doctors to be held in Bengaluru-The News Minute
Turner Syndrome -National Organization for Rare Disorders
Turner Syndrome: Causes, Symptoms, Diagnosis & Treatment-Cleveland Clinic
© Turner Syndrome Foundation, 2021
