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Turner Syndrome: Diagnosis and Treatment Research Paper

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Updated: Jun 9th, 2021

Introduction

Turner syndrome is an infrequent genetic disorder that affects females, and that is characterized by a short stature, heart defects, and ovarian developmental problems. It was first described in1938 by Henry Turner as a rare chromosomal abnormality. Research has shown that the condition develops from the absolute or partial absence of one of the X chromosomes that constitutes the female genetic makeup. The disorder is usually diagnosed before the birth of a child, during infancy, or during childhood before the age of 5. In rare cases, symptoms are not seen until puberty or young adulthood. Several treatment strategies are used to manage the condition as it can cause symptoms throughout life. Statistics have shown that approximately 70,000 women in the United States suffer from the disorder.

Pathophysiology

As mentioned earlier, Turner syndrome is caused by the absolute or partial absence of certain genes from one of the X chromosomes. A normal human being has 46 chromosomes, which include two sex chromosomes that differentiate males and females. Females possess the XX chromosomes while males possess the XY chromosomes. That Research has shown that girls and women with the disorder possess an X chromosome that lacks one set of genes.

In patients with 45, X karyotype, approximately 65% lack the X chromosome that is transferred from the father (Ramirez, Edith, & Torre, 2018). A similar situation is observed in individuals with mosaic karyotypes and a 46, XX karyotype. In certain patients, Turner syndrome results from the deletion of the SHOX gene (Ramirez, et al., 2018). This condition causes a skeletal phenotype called Lerri-Weill dyschondrosteosis (LWD) that results in a short stature.

Signs and Symptoms

The signs of the disorder vary among girls and women, as it manifests in varied ways. In the majority of girls, signs include a short height, stunted growth, and developmental problems (Shankar & Backeljauw, 2018). In other girls, the disease is difficult to diagnose because its signs are not readily apparent. In women, the symptoms of the disorder include heart defects and poor development of the ovary. Before birth, signs include heart abnormalities, abnormal kidneys, and edema (Ramirez et al., 2018).

The most common symptoms during infancy include cardiac defects, slowed growth, low-set eras, webbed neck, short fingers and toes, nails that are turned upward, arms that turn outward, and a receding lower jaw. In childhood and adulthood, symptoms include stalled sexual development during puberty, difficulties conceiving, stunted growth, infertility, learning disabilities, and loss of menstrual cycles (Folsom & Fuqua, 2016).

Complications

Complications associated with Turner syndrome include hearing and vision loss, heart problems, high blood pressure, scoliosis, and kidney malfunction. Others include autoimmune problems, learning disabilities, pregnancy complications, infertility, immune disorders (diabetes and hypothyroidism) and mental health issues (Ramirez et al., 2018). Women suffering from the disorder who become pregnant experience several challenges including gestational diabetes and high blood pressure (Folsom & Fuqua, 2016).

Treatments

Turner syndrome is treated in varied ways because its complications differ from person to person. Therefore, treatment plans are created based on a patient’s manifestations. It is important to conduct frequent evaluation and monitoring for medical complications associated with the disorder in order to provide early diagnosis and treatment (Folsom & Fuqua, 2016). Treatment methods include growth hormones, estrogen therapy, and pharmacological management.

Human Growth Hormone

Physicians usually recommended growth hormone therapy for most girls because research has shown that it is an effective treatment method. It involves daily injections of recombinant human growth hormone in order to increase height, enhance the growth of bones, and correct other developmental challenges (Ramirez et al., 2018). This treatment is most effective if it is started early. In cases where patients have very short stature, physicians include oxandrolone in the treatment plan (Culen, Ertl, Schubert, Bartha-Doering, & Haeusler, 2017). Oxandrolone mitigates the problem by enhancing bone mineral density and facilitating the production of protein in the body.

Estrogen Therapy

One of the challenges faced by young girls with Turner syndrome is delayed puberty. Estrogen therapy is recommended in order to help patients begin puberty. In most cases, the therapy is commenced at the age of 11 years (Culen et al., 2017). Estrogen is a hormone that is produced by the female body that promotes bone mineralization, and the development of breasts and the uterus (Ramirez et al., 2018). Many physicians use estrogen therapy together with growth hormones because it addresses the issue of stunted growth. It is usually done throughout life and halted during the onset of menopause.

Pharmacological Management

Medications can also be used in the treatment of Turner syndrome. Thyroid replacement therapies, anabolic steroids, antihypertensive agents, vitamins and minerals, and estrogen replacement therapies are commonly used (Shankar & Backeljauw, 2018). Anabolic steroids are used as adjuvant for growth hormone therapy while antihypertensive agents are used to manage hypertension and prevent related complications (Culen et al., 2017).

Nursing Care

Nursing care of patients include nursing assessment, nursing diagnosis, nursing care planning and goals, nursing interventions, and evaluation. Assessment involves a thorough evaluation of a patient’s history and the carrying out of a physical examination (Culen et al., 2017). Evaluation is conducted different for children, adolescents, and adults. Physical examination involves observation for signs such as short stature and ovarian failure (Ramirez et al., 2018).

The data collected during assessment is then used for medical analysis. The most common nursing diagnoses include ineffective eating dynamics, distorted body image, low-self esteem, and the probability of imbalanced nutrition (Folsom & Fuqua, 2016). Major nursing interventions are the improvement of self-esteem and physical health. Patients are taught how to restore self-esteem, participate in physical activity, prepare healthy foods, and participate in treatment regimes for better outcomes (Culen et al., 2017). Evaluations are conducted to find out whether the aforementioned nursing care planning and goals were attained.

People with Turner syndrome require specialized nursing care because of the complications that result from the disorder. For example, high activity levels cause sleeping disorders while an arched palate causes feeding problems (Shankar & Backeljauw, 2018). Babies with arched palates require specific interventions such as special teats and feeding bottles. It is important for mothers of these babies to seek advice from consultants on the best ways to feed their infants. The nursing care offered to children and adolescents should involve a multidisciplinary team that conducts renal, cardiovascular, thyroid function, hearing, vision, dental, lymphedema, and glucose intolerance assessments (Shankar & Backeljauw, 2018).

Conclusion

Turner syndrome is a genetic disorder that is caused by the deletion of a set of genes from the X chromosome, which leads to abnormal sexual development in girls and women. Patients with the condition are usually short and they possess webbed necks, low-set ears, and a small chin. The disorder causes several complications that include heart problems, high blood pressure, scoliosis, and kidney problems. Growth hormone therapy, estrogen therapy, and pharmacological management are most common remedies used in the treatment of Turner syndrome. Nursing care involves assessment, diagnosis, care planning and goals, interventions and evaluation. Different age groups are treated differently because symptoms and complications usually vary.

References

Culen, C., Ertl, D-A., Schubert, K., Bartha-Doering, L., & Haeusler, G. (2017). Care of girls and women with Turner syndrome: Beyond growth and hormones. Endocrine Connections, 6(4), 39-51.

Folsom, L. J., & Fuqua, J. S. (2016). Reproductive issues in women with Turner syndrome. Endocrinology Metabolism Clinics of North America, 44(4), 723-737.

Ramirez, J. M. C., Edith, C. V., Torre, J. M. (2018). Turner syndrome case presentation. Journal of cardiology & Current Research, 11(6), 221-223.

Shankar, R. P., & Backeljauw, P. F. (2018). Current best practice in the management of Turner syndrome. Therapeutic Advances in Endocrinology and Metabolism, 9(1), 33-40.

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