In honor of Turner Syndrome Awareness Month that just passed this February, we are dedicating this post to those with Turner Syndrome, a condition that rarely discussed.
Turner Syndrome is a condition where a female is partly missing or completely missing a second X chromosome, which affects development. In 1938, the syndrome was discovered by Henry Turner, a doctor who wrote a report describing the symptoms of seven women who all had Turner Syndrome. About 1 in 2,500 newborn girls are diagnosed with Turner Syndrome worldwide. This shocking low rate of diagnosis is due to the fact that 95% of pregnancies with Turner Syndrome abort spontanaously in the first trimester.
Turner Syndrome is a unique genetic condition that is not determined by
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Initially, doctors used to prescribe pituitary extract as a source of growth factors and hormones; however, the treatment was unsuccessful. Currently, by twelve years old, females with Turner Syndrome are treated with different estrogen and progesterone agents and schedule in the form of tablets or patches as hormone therapy to induce pubertal development and supplement the hormone that the body cannot produce by itself. The dosage will gradually increase the breast and uterine develop adequately. After positive results, patients will also begin oral cyclic progesterone treatment to induce regular periods. Physicians used to delay pubertal development in order to maximize potential height of the female patient, but this method is no longer conventional as it would interfere with a female’s social …show more content…
In particular, The Eunice Kennedy Shriver National Institute of Child Health and Human Development (NICHD) has conducted research where they discovered a new abnormality of the aorta that affects about 50% of females with Turner Syndrome. They are also studying topics including: characteristics that put women at high risk for aortic dissection, comparing the effectiveness of drugs to prevent dilation of the aorta, and psychosocial functioning. NICHD has also worked on the development of a new, low-cost newborn screening test for Turner Syndrome to decrease the number of females who are not diagnosed until their teenage years. While there may be no cure for Turner Syndrome, females with Turner Syndrome can live long, healthy lives. Even if females with the syndrome may be infertile, they can still get pregnant through in vitro fertilization or they can simply adopt children. Females with Turner Syndrome need to visit the doctor regularly for check-ups to catch any potential problems before they become
On October 10, 2007 three-year- old Sebastian Ferrero of Gainesville, Florida died due to an overdose of Arginine, a naturally occurring amino acid that is used to test for growth hormone deficiency. Sebastian was a healthy child that was a bit short for his age. Parents Horst and Lucia Ferrero had taken Sebastian to physicians at the University of Florida to enquire about hormone therapy to boost his height. On October 8, 2007 Sebastian’s parents took him to the University of Florida Pediatric Clinic housed at the Shands Medical Plaza. The appointment was supposed to be a routine test to determine why his growth rate was below average. Only two short days later Sebastian died from an overdose.
Here are some interesting facts about Turner’s. This syndrome affects 60,000 women in the United States, and is seen 1 to 2500 babies born and about 800 cases are diagnosed each year. The single X chromosome comes from the mother in 75% to 80% of cases. A woman with Turner’s Syndrome, who is untreated, averages around four feet eight inches in height. A female, XX, who is missing one of the X chromosomes, can survive. However, a male cannot survive without the X chromosome. Butterflies are seen as a symbol of hope for girls who have Turner’s Syndrome.
As a pediatrician and urologist specifically concentrating on disorders of sexual development (DSD)- “congenital conditions in which the development of chromosomal, gonadal, or anatomical sex is atypical” (Arnold/Saguy, Lecture 11)- every once in a while, a pregnant woman, whose first child is born with congenital androgen hyperplasia (CAH), comes to my office asking for a medicinal point of view on the biological, psychological, and ethical methods of treatment of her second child. Since recent advancements in research on ambiguous genitalia has uncovered several treatments that attempt to prevent certain disorders of sexual development in children, the woman comes in for insight on a steroid treatment specifically to avoid her second child developing ambiguous genitalia.
Although there is no cure for TSD, there are several revention methods for the disease, which gives hope to those who are carrier, but would like to bring a family into the world. Hopefully, further study and research of Tay-Sachs will lead to a cure one day, and TSD will no longer be a deadly factor for infants, and bring hope to their parents.
...ssion, and anxiety can occur (Giarelli et al., 2010). Athletes who wish to play sports should have a clinical and cardiac evaluation before allowed to play. Women who are considering getting pregnant should be given have a cardiovascular risk assessment before conceiving and genetic counseling should be recommended to establish the patient’s risk of passing on the syndrome (Lippincott Williams & Wilkins, 2005).
This genetic disorder is not specific to a certain age, ethnic group, or gender; theref...
Infertility can have many causes as age, spouse sperm count and morphology, smoking, weight, whether or not a women ovulate or not, whether she have any blockages or abnormalities in their Fallopian tubes. Usually a fertility specialist will order a pelvic ultrasound to start out, to check for blockages and abnormalities in the uterus and a semen count from the spouse to see how are his sperm, how they are shaped and how they move. Depending on the results from that, the doctor may put the women on a for a few months drug to stimulate the ovary and that way she can ovulate if she don 't ovulate. If that doesn 't work, they will go on to Intrauterine insemination or in vitro fertilization.
There is no cure for Polycystic Ovary Syndrome, there are medications and a treatment that will subdue the symptoms and may even make it possible to have children but very much is still unknown and can go undiagnosed for many years. Polycystic Ovary Syndrome may sound like an innocent enough disease, and the public probably hasn’t even heard of it, the disorder has no cure and can affect all aspect of a woman’s health for the rest of her life.
"Down syndrome." South African Medical Journal 101.1 (2011): 6. Health Reference Center Academic. Web. 16 Apr. 2014.
Identification and Cure Although Turner Syndrome can be identified in the fetus or with a blood test, there is not a known cure for it. With growth hormone replacement therapy and oestrogen injections (female hormones), the female victim of Turner syndrome can live an outwardly normal life. Ongoing research in reproduction and adoption make it possible for these women to marry and raise children.
Swan, S.H., F. Liu, J.W. Overstreet, C. Brazil, and N.E. Skakkebaek. "Growth Hormones Fed to
Turner Syndrome Society of the United States (2011). http://turnersyndrome.org Retrieved November 30, 2013 from http://turnersyndrome.org/learn-about-ts/what-ts
While the symptoms are all the same, many different names have been attributed to menopause-like symptoms in males. Some physicians use the term “SLOH” or “Symptomatic Late Onset Hypogonadism” to describe andropause while others who prefer to label it a deficiency refer to it as ‘”ADAM” or “androgen deficiency of the male”. Whether or not andropause should be treated depends on one’s physician’s opinion on the matter. Some believe that andropause is a natural state that all aging males undergo and that it shouldn’t be treated as a medical abnormality while others believe that there are considerable positive effects of hormone therapy. Supporters of hormone therapy do not agree with the idea that lower hormone levels are simply a natural process of aging. They point out that as life expectancy has increased, so has the need to treat aging-related hormonal shifts. In order to form an opinion on whether andropause should be considered a treatable disease, it’s important to understand its physiological process and an underlying condition known as “adrenopause”.
It is believed that people with Down Syndrome has been around for a while. In 1959 Professor Jérome Lejeune proved that Down's syndrome is a chromosomal irregularity.Parents in that time were ashamed of their children with disabilities.In 1944 kids with disabilities did not have the right to have an education. Not until 1971 it was recognized that it should be legal for people with learning disabilities to get an education.Life expectancy for people with Down syndrome has heightened dramatically in modern decades from 25 in 1983 to 60 today. People with down syndrome have an increased risk for certain medical conditions such as heart disease,brain atrophy and learning disorders.(downs-syndrome association)