Turner Syndrome

Degree & Ahnn Studies 128 Admire Drive Camelport, TX 43210 * Dear Mrs. Koch, * In order to research your infertility, I have taken a karotype of your blood. A karotype is a map of all the chromosomes in your body. This type of testing is used for many diagnoses such as Klinfelter’s Syndrome, Tay Sach, Fragile X disease and many others. The average human body contains 46 chromosomes, organized structures of DNA. Chromosomes show the genetic information in one’s body. There are 22 sets of chromosomes plus an additional two individual chromosomes. Each set pertains to a different factor of the body. The two add-ons are called the X/Y chromosomes. The X and Y are what decide if you’re a girl or boy. Having two X’s mean you are a female, where as having one X and one Y makes you a male. (A pair of two Y chromosomes does not exist.) * After analyzing your karotype, Judy, I have discovered you only have 45 chromosomes. You are missing your second X chromosome, which affects your growth system. This situation is known as Turner Syndrome. This disease is caused by nondisjunction of parental chromosomes during reproduction. Females with this condition often have broad, flat chests, drooping eyelids, dry eyes, and incomplete development of puberty. As a girl, you may have noticed you were developing slower then your peers. People with Turner Syndrome slack in growth of height and pubic hair. Also because menstruation is rarely present with this case, vaginal dryness often occurs which leads to painful intercourse. Other complications you could endure on account of this disease are; arthritis, cataracts, diabetes, hashimoto's thyroidsitis, heart defects, high blood pressure, kidney problems, middle ear infection and/or obesity. * As you already are aware of, growth hormones are great help to the expedition of breasts and pubic hair. Estrogen replacements also are very good at relieving symptoms of Turner Syndrome. I know you plan to expand your family with your husband and I am sorry to say it is not possible to do so by natural development. However, if you are willing to accept donor eggs or fertility shots you could reproduce successfully without your child having the same issue. Adoption is another common conformity. Although this disease does effect you, it is only a part of you physical and emotional self. There is nothing stopping you from living a fun and active life. As long as you stay monitored your life will be completely normal. * I understand this is big news but it is nothing to worry about. My colleague, Madison Degree and I are proud to help you with any accommodation you decide on. If you seek further support, try joining the Turner Syndrome Society at http://www.turnersyndrome.org/. You lived your life up till now without the knowledge of your disease; don’t let this conscience affect your daily life from now on. * Profoundly, * Dr. Jill Lee Ahnn Physician of Degree & Ahnn Studies (123) 987-6431