INTRODUCTION:

About one in every 2,500 live female births is affected by the rare genetic condition known as Turner syndrome (TS), which is characterized by the partial or total loss of one X chromosome in females. Since Dr. Henry Turner initially described Turner syndrome in 1938, there has been a great deal of research and developments in medicine, that have enhanced our knowledge, ability to diagnose, and ability to treat the disorder.¹

A variety of physical and developmental characteristics are present in Turner syndrome, including short stature, infertility caused by gonadal dysgenesis, cardiac abnormalities, renal anomalies, and distinctive facial traits. While each affected person's clinical presentation of Turner syndrome is unique, it has two characteristic traits that frequently lead to clinical assessment and diagnosis low stature and gonadal dysgenesis.²

The chromosomal foundation of Turner syndrome determined by researchers thanks to advancements in cytogenetic techniques, particularly the discovery of karyotyping in the 1950s and 1960s. This revealed the genetic etiology of the condition, which is the lack of part or all of one X chromosome. This discovery made it possible to provide genetic counselling and more accurate diagnoses for people with Turner syndrome and their families.³

The treatment of Turner syndrome was completely changed in the 1970s with the advent of hormone replacement therapy, especially estrogen replacement, which addressed problems such as delayed puberty, secondary sexual characteristics, and bone health. The mainstay of care for people with Turner syndrome is still hormone replacement therapy, which improves long-term results and quality of life.⁴

Turner syndrome knowledge has advanced significantly in the last few decades as a result of studies aimed at determining the molecular causes of the condition and investigating possible targeted treatments. With the advancement of genetic testing techniques, more thorough diagnoses and individualized treatment plans catered to each patient's needs were possible.⁵ Despite these developments, managed Turner syndrome difficulties, especially when it comes to handling the disorder's intricate medical, psychological, and reproductive elements, To maximise results and offer complete support for people with Turner syndrome throughout their lifetime, multidisciplinary care involving endocrinologists, geneticists, cardiologists, and mental health specialists are crucial.⁶

This introduction lays the groundwork for a thorough examination of Turner syndrome, emphasizing its importance in the field of medical genetics and the continued need for investigations, teaching, and comprehensive care for those who are impacted.

Historical context:

In 1938, Dr. Henry Turner released his groundbreaking study detailing seven female patients who shared physical characteristics. He named this condition "Turner Syndrome" in remembrance of his colleague, Dr. Laurence Moon, who has case histories similar to his.⁷

In the 1950s and 1960s, scientists made progress in determining the genetic foundation of Turner syndrome, realizing that it is a chromosomal condition characterized by partial or complete loss of one X chromosome. The development of karyotyping, which made it possible to see chromosomes under a microscope, was one of the cytogenetic procedures that led to this discovery.⁸ 1970s–1980s: Turner Syndrome treatment made major strides following the introduction of hormone replacement therapy notably estrogen replacement, in the 1970s. To induce secondary sexual characteristics and promote bone health in patients with Turner syndrome, estrogen therapy have become the accepted standard of care.⁹

In the 1990s, additional investigation into the genetic foundation of Turner syndrome resulted in a more profound comprehension of its fundamental mechanisms, encompassing the discovery of particular X chromosome genes implicated in the condition. This has made it easier to create genetic testing techniques that provide a more thorough and reliable diagnosis of Turner syndrome.¹⁰ Healthcare Innovations: The multimodal management of Turner syndrome has greatly improved over time, and there are new facilities and specialists clinics devoted to offering complete care to those who have the disorder. This entails psychological assistance, reproductive counselling, and routine screening for related health problems such as heart abnormalities, renal anomalies, and growth concerns.¹¹

Many studies and medical advances have been conducted on Turner syndrome throughout the years, improving the condition's diagnosis, treatment, and prognosis for those who are affected. Nonetheless, difficulties still exist, especially when it comes to treating the condition's intricate medical, psychological, and reproductive components, which emphasizes the significance of ongoing study and interdisciplinary cooperation in the area.

Benefits for Turner Syndrome:

Turner syndrome clients are eligible to apply for two different types of benefits. For example, supplementary security income and disability benefits from Social Security. The client can use the Social Security website to submit an online application.

Social Security Disability Insurance:

· It offers financial support to people with qualifying disabilities who are unable to work.

· To be eligible for SSDI benefits, a person must had held Social Security-covered employment and have a medical condition that satisfies the agency's definition of disability.

· Monthly payments are made to beneficiaries to assist with living expenses. The amount of these benefits is determined by the person's prior wages and employment history before their disability.

· After a waiting period, SSDI beneficiaries may also be eligible for Medicare coverage in addition to cash aid.

· To keep getting benefits, recipients must fulfil specific eligibility requirements and might have to submit to recurrent evaluations of their health.

· To support people with disabilities who, because of their impairments, are unable to engage in considerable gainful activity, assisting them in maintaining their financial stability and gaining access to the medical treatment they require.¹²

Supplemental Security Income:

· It offers financial support to the elderly, blind, or disabled people with little resources and income.

· A person must fulfil specific requirements to be eligible, such as having a low income and few resources, being elderly (65 years of age or older), blind, or disabled, as defined by the Social Security Administration.

· It must be anticipated that the impairment will either cause death or endure for at least a year.

· Monthly payments are made to beneficiaries to assist with meeting necessities like clothing, food, and housing.

· Federal and state laws determine the SSI payment level, which in some circumstances may be enhanced by state funding.

· Medicaid coverage, which gives access to medical services like doctor visits, hospital stays, and prescription drugs, may also be available to SSI recipients.¹³

CLINICAL FINDINGS:

Turner syndrome and heart:

Several cardiac disorders are linked to Turner syndrome (TS), including the following:

Aortic bicuspid valve (BAV):

Those who have BAV have only two leaflets in their aortic valve, as opposed to the normal three. Aortic stenosis, or narrowing of the aortic valve, and aortic regurgitation, or blood leaking back into the heart, two problems that can result from BAV.

Aortic coarctation is a constriction of the aorta that typically occurs close to the ductus arteriosus's insertion. It can result in decreased blood pressure in the legs and belly and higher blood pressure in the head and arms.²

Aortic Dissection: Aortic dissection, a potentially fatal disorder characterized by a tear in the inner layer of the aorta, is more common in those with BAV and aortic coarctation.¹⁵

Aortic Dilatation:

People who have aortic dilatation are at a higher risk of developing aortic dissection and other cardiovascular issues. two more heart defects in the Structure: such as abnormalities of the coronary arteries and mitral valve problems, or ventricular septal defects, which are holes in the wall connecting the lower chambers of the heart.⁹

Diagnosis and Management:

Identification and Handling:

Tests used in prenatal screening include amniocentesis and ultrasonography⁹.

Physical Examination:

Based on hormone levels, growth patterns, and distinctive physical characteristics. ⁵.

Hormone Replacement Therapy:

Estrogen is commonly started throughout puberty to encourage bone health and cause secondary sexual characteristics.⁹

Growth Hormone Therapy:

To increase a person's ultimate adult height.⁴

Counseling:

Given that the majority of people with Turner syndrome are infertile, discussions about adoption and/or fertility counseling may be conducted.⁶

Monitoring of the heart:

To identify and treat congenital heart abnormalities.²

Psychosocial Support:

To help with the emotional and social difficulties brought on by Turner Syndrome, such as troubles with infertility and body image.¹⁶

In summary, Turner syndrome is a chromosomal disorder that primarily affects women and can have a major impact on a person's ability to develop physically, cognitively and emotionally. Notwithstanding its difficulties, people with Turner syndrome can significantly enhance their quality of life with early identification, all-encompassing medical care, and support services. Improved knowledge, care, and handling of this illness remains to be hoped for thanks to research and technological developments in medicine. People with Turner syndrome can live happy, fulfilled lives, reach their full potential, and make valuable contributions to society with greater understanding and support.

REFERENCES:

1. Henry H. Turner. A Syndrome of Infantilism, Congenital Webbed Neck, and Cubitus Valgus. Endocrinology. 1938; 23(5): 566-574. DOI: 10.1210/endo-23-5-566

2. Sybert, V. P., and McCauley, E. Turner's syndrome. New England Journal of Medicine. 2004; 351(12): 1227-1238. DOI: 10.1056/NEJMra030360

3. Ford, C. E., Jones, K. W., Polani, P. E., De Almeida, J. C., and Briggs, J. H. A sex-chromosome anomaly in a case of gonadal dysgenesis (Turner's syndrome). The Lancet. 1959; 273(7075): 711-713. DOI: 10.1016/S0140-6736(59)91893-8

4. Ross, J. L., Quigley, C. A., and Cao, D. Growth hormone plus childhood low-dose estrogen in Turner's syndrome. New England Journal of Medicine. 2006; 354(11): 1236-1248. DOI: 10.1056/NEJMoa044423

5. Sybert, V. P. Phenotypic effects of mosaicism for a 47, XXX cell line in Turner syndrome. The Journal of Pediatrics. 2018; 200: 260-266. DOI: 10.1016/j.jpeds.2018.05.026

6. Bondy, C. A., and Turner Syndrome Study Group. Care of girls and women with Turner syndrome: A guideline of the Turner Syndrome Study Group. The Journal of Clinical Endocrinology and Metabolism. 2007; 92(1): 10-25. DOI: 10.1210/jc.2006-1374

7. Elsheikh, M., and Conway, G. S. The impact of sex steroid replacement on the insulin resistance syndrome in Turner's syndrome. Clinical Endocrinology. 2002; 56(6): 745-750. DOI: 10.1046/j.1365-2265.2002. 01508 .x

8. Ogata, T., Matsuo, N., and Fukushi, M. A comparison of the diagnostic accuracy of cytogenetic and molecular karyotyping in Turner syndrome. Journal of Medical Genetics. 1997; 34(5): 385–388. DOI: 10.1136/jmg.34.5.385

9. Gravholt, C. H., Juul, S., Naeraa, R. W., Hansen, J., and Christiansen, J. S. Morbidity in Turner syndrome. Journal of Clinical Epidemiology. 1998; 51(2): 147–158. DOI: 10.1016/s0895-4356(97)00223-4

10. Davenport, M. L. (2015). Approach to the patient with Turner syndrome. The Journal of Clinical Endocrinology and Metabolism, 100(2), 399–407. DOI: 10.1210/jc.2014-2005

11. Donaldson, M. D., and Gault, E. J. Optimising management in Turner syndrome: from infancy to adult transfer. Archives of Disease in Childhood. 2018; 103(5): 491–496. DOI: 10.1136/archdischild-2016-312209

12. Social Security Administration. Benefits for people with disabilities [Internet]. Ssa.gov. 2019. Available from: https://www.ssa.gov/disability/

13. Social Security Administration. Supplemental Security Income [Internet]. Ssa.gov. 2019. Available from: https://www.ssa.gov/ssi/

14. Cannon D. Turner Syndrome and SSD Benefits [Internet]. Cannon Disability Law. 2023. Available from: https://cannondisability.com/blog/turner-syndrome-ssd-benefits/

15. Bakalov, V. K., and Bondy, C. A. (2009). Molecular and cytogenetic studies of Turner syndrome reveal multiple mechanisms for X monosomy. Cytogenetic and Genome Research, 123(1–4), 241–248. DOI: 10.1159/000184715.

16. Gravholt, C. H. Clinical practice in Turner syndrome. Nature Reviews Endocrinology. 2017; 13(10): 601–612. DOI: 10.1038/nrendo.2017.71

Received on 02.03.2024 Modified on 18.03.2024

A and V Pub J. of Nursing and Medical Res. 2024; 3(2):59-62.

DOI: 10.52711/jnmr.2024.13