Turner Syndrome Case Study

1. What is the definition of your disease? How does someone know if they have this disease? What are the typical signs or symptoms of your disease or disorder? Include a maximum of 6. What is the typical test used to diagnose someone with this disease? Briefly explain this test. What is the positive test for this disease?

Turner Syndrome is a rather unusual chromosomal disorder affecting females which was uncovered by Dr. Henry Turner in 1938 (Saikia, Sarma, & Yadav, 2017). The only way to be positively diagnosed with Turner Syndrome is by performing karyotyping to analyze a client’s chromosomes in a blood sample (Saikia, Sarma, & Yadav, 2017). The key diagnosis of this syndrome is having the whole or a portion of the second XX female chromosome altered and/or missing in the patient’s genetic code (Gonzalez, & Witchel, 2012). Not every individual with Turner Syndrome will have the same symptoms, and some will have varying levels of severity of symptoms (Gonzalez, & Witchel, 2012). A few commonly seen symptoms of TS are: stunted growth, infertility, …show more content…
The endocrine system in a human consists of 9 glands throughout the body. These glands are the pineal, hypothalamus, pituitary, thyroid, parathyroid, thymus, pancreas, adrenals, and ovaries (female) / testes (male). Working interconnectedly these glands providing storage, pathways and releasing of various hormones throughout the body (Zoeller et al., 2014). In a patient with Turners Syndrome the production of several hormones such as growth hormone, estrogen, progesterone is very limited and/or not at all in some cases (Gonzalez, & Witchel, 2012). Depletions of these hormones result in the symptoms of short stature, infertility, limited expected sexual development during puberty (Gonzalez, & Witchel,