Has your child just been diagnosed with Turner Syndrome?  Does a loved one, such as a family member or close friend, have Turner Syndrome?  This article will provide an overview of what Turner Syndrome is, along with the recommended treatment.

Turner syndrome affects about 1 in every 2500 female newborns.  Most go undiagnosed until adolescence when menarche is to begin.  Individuals who have Turner syndrome most commonly present with a physically short figure along with delay in menarche (i.e., the first time a woman menstruates) (Christopoulos, Deligeoroglou, Laggari, Christogiorgos, & Creatsas, 2008).  Physical characteristics vary; they include the under or no development of ovaries, webbed neck, or irregular bone growth, which contributes to a shorter figure.  The deficit of ovaries can affect a person’s fertility, often causing infertility.  Other health problems can occur, including skeletal abnormalities, high blood pressure, troubles with hearing, high body weight, kidney difficulty, and cardiovascular complications.  (Christopoulos, et al., 2008).

Cognitively, these individuals can experience difficulties with attention, memory, visio-spatial processing, and direction.  Identification of volume and shapes has also been documented.  These individuals may also struggle with overall executive functioning, and may have difficulty grasping the concept of mathematics (Christopoulos, et al., 2008).

A combination of any or all of these symptoms can affect an individual psychologically.  A study was conducted to determine if the inability to have biological children affects the development or sustainment of romantic relationships, sibling relationships, and friendships (Clauson, Martin, & Watt, 2012).  It was found that infertility may deter someone from pursuing a romantic relationship with the opposite sex, along with negatively affecting self-esteem (Rolstad, Moller, Bryman, & Botman, 2007; Cragg & Lafreniere, 2010).  Because of this, sexual experiences may occur less frequently and at an older age (Rolstad et al., 2007; Naess, Bahr, & Gravholt, 2010).  This further can cause self-doubt regarding the person’s sexual ability and skills, furthering a person’s avoidance of romantic and sexual relations.  Discussing a person’s possible insecurities and doubts surrounding their infertility is an important conversation to engage in in therapy.  These insecurities may cause someone to isolate in order to avoid potential rejection (Boman, Bryman, Hailing, & Moller, 2011; Gravholt, Andersen, Conway, Dekkers, Geffner, Klein, Lin, Mauras, Quigley, Rubin, & Sandberg, 2017).

Sibling and peer relationships were also examined.  Due to delay in sexual development, jealousy may arise.  This may be due both to siblings’ and friends’ ability to naturally conceive, along with difference in body development.  Negative sense of self and body image may stem from this jealousy and insecurity (Ross, Zinn, & McCauley, 2000; Christopoulos, Deligeoroglou, Laggari, Christogiorgos, & Creatsas, 2008).  Additionally, it was also found that people diagnosed with Turner Syndrome were selective in engaging in close peer relationships due to uncertainty of trust when disclosing their diagnosis.  Individuals may fear judgment from their peers because of underdeveloped bodily features. Because these factors may be present, these girls are also at high risk for experiencing depression and/ or anxiety (Christopoulos, et al., 2008).

Varying treatments, therapies, and additional aids are available to assist these individuals in establishing and maintaining a more normal, successful, and healthy life.  In order for these girls to develop sexually and psychosexually, Hormone Replacement therapy, Gonadal Hormone therapy, and Estrogen therapy can be administered.  This can help with the onset of menarche, help continue the menstruation cycle, aid in normal development, and decrease the likelihood of chronic disease.  Because many girls do not begin menarche during puberty, it is recommended to begin hormone therapy during this time, if possible.  This will not only aid in normal development sexually and psychosexually, but also decrease the risk development of psychological symptoms (Christopoulos, et al., 2008).

Factors to be considerate of when raising a child with Turner’s Syndrome, or when engaging in therapy with such individual, include body image, self-esteem, identity, and worth, along with interpersonal relationships.  Isolation should be assessed for in order to gauge social support and the possible presence of depression.  Sexual education should also be incorporated into therapy, due to delayed sexual development and activity (Saenger, Wikland, Conway, Davenport, Gravholt, Hintz, Hovatta, Hultcrantz, Landin-Wilhelmsen, Lin, Lippe, Pasquino, Ranke, Rosenfeld, & Silberbach, 2001).  Finally, processing infertility, pregnancy and alternative options, and risks of pregnancy should also be discussed (Gravholt, et al., 2017).

Lastly, if an individual is experiencing difficulties cognitively or intellectually, seeking intellectual assessment can help determine the specific extra educational aid needed.

If these individuals are diagnosed properly and at an early enough age, treatment is available for the different disparities these individuals face and can aid in the development of a normal life. It is imperative that conversation about these syndromes is integrated into the different areas of medicine, education, and therapy in order to bring these syndromes to light and make their prevalence and importance known, not only to individuals living with one of these syndromes, but also to parents, professionals, and the general population. 

 

 

References

Boman, U.W., Bryman, I., Hailing, K., & Moller, A. (2001). Women with Turner syndrome psychological well-being, self-rated health and social life. Journal Of Psychosomatic Obstetrics & Gynecology. 22(2), 113.

Christopoulos, P., Deligeoroglou, E., Laggari, V., Christoglorgos, S., & Creatsas, G. (200).  Psychological and behavioural aspects of patients with Turner syndrome from childhood to adulthood: A review of the clinical literature.  Journal Of Psychosomatic Obstetrics & Gynecology. 29(1), 45-51.

Clauson, Sarah & Hollins Martin, Caroline & Watt, Gordon. (2012). Anxiety as a cause of attachment avoidance in women with Turner Syndrome. Sexual & Relationship Therapy. 27.

Cragg, S., & Lafreniere, K. (2010). Effects of Turner syndrome on women’s self-esteem and body image. Journal Of Developmental & Physical Disabilities. 22(5), 433-445.

Gravholt, C. H., Andersen, N. H., Conway, G. S., Dekkers, O. M., Geffner, M. E., Klein, K. O.,

Lin, A.E., Mauras, N., Quigley, C.A., Rubin, K., & Sandberg, D. E. (2017). Clinical practice guidelines for the care of girls and women with Turner syndrome: proceedings from the 2016 Cincinnati International Turner Syndrome Meeting. European journal of endocrinology177(3), G1-G70.

Naess, E.E., Bahr, D., & Gravholt, C.H. (2010). Health status in women with Turner Syndrome: A questionnaire study on health status, education, work participation and aspects of sexual functioning. Journal of Clinical Endocrinology, 72(5), 678.

Rolstad, S.G., Moller, A., Bryman, I., & Boman, U.W. (2007). Sexual functioning and partner relationships in women with Turner syndrome: Some empirical data and theoretical considerations regarding sexual desire. Journal of Sexual and Marital Therapy, 33(3), 231–247.

Ross, J., Zinn, A., & McCauley, E. (2000). Neurodevelopmental and psychosocial aspects of Turner syndrome.  Mental Retardation And Developmental Disabilities Research Reviews. 6(2), 135-141.

Saenger, P., Wikland, K. A., Conway, G. S., Davenport, M., Gravholt, C. H., Hintz, R., ... & Lippe, B. (2001). Recommendations for the diagnosis and management of Turner syndrome. The Journal of Clinical Endocrinology & Metabolism86(7), 3061-3069.

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