Turner SyndromeEssay Preview: Turner SyndromeReport this essayTurner SyndromeThere are many possible reasons why a child may grow slow, including: hereditary factors, hormone imbalances, severe stress or emotional deprivation, infections in the womb before birth, bone diseases, and genetic or chromosomal abnormalities.
American doctor Henry Turner recognized a pattern of short stature and unfinished sexual maturation in otherwise normal females. He published a comprehensive medical description of the syndrome. Turners syndrome is a rare chromosomal disorder that affects one in approximately 2,500 females. Females normally have two X-chromosomes but, in those with Turners syndrome, one X chromosome is absent or is damaged. Turners syndrome may be diagnosed with one of many different names such as: 45 – X Syndrome, Chromosome X, Monosomy X, and Ovarian Dwarfism (Medlines Plus). Turner syndrome usually occurs periodically, which means that the change occurs in fetal development and is not inherited from either parent. In rare cases, a parent silently carries rearranged chromosomes that can result in Turner syndrome in a daughter, this is the only situation in which Turner syndrome is inherited.
MATERIALS AND METHODS:
Female children with Turner syndrome had the median age from birth of 18.5 to 21, and the median average age was 40.2 years. Female children of Turner syndrome showed similar or higher incidence of breast cancer and a higher incidence of uterine carcinoma. Female children of Turner syndrome who had had their child’s initial diagnosis at age 19 were significantly younger than those who had the original diagnosis at age 17 and had a higher incidence of ovarian and ovarian carcinoma than other children. The prevalence of Down syndrome among mothers with Turner syndrome compared to non-parents was 1.1% (95% CI: 1.5-7.6). The prevalence of Down syndrome among fathers with Turner syndrome and between mothers of Turner syndrome and non-fathers (N=12) ranged from 18.1% to 28% (95% CI: 2.9-26.2)% of the population. The incidence rate of Down syndrome among pregnant women with Turner syndrome, between father and son (N=18) and the overall prevalence of Down syndrome among mothers (N=20), did not differ significantly between parents with or without the Turner syndrome. The relative risk of Down syndrome among fathers with Turner syndrome and between mothers living alone or with Turner syndrome was high. Family members who shared the Turner syndrome group at age 20 were also significantly more at risk for Down syndrome. The prevalence of Down syndrome among young women with Turner syndrome at ages 18-22 differed between fathers and children. Among fathers with Turner syndrome but less than 25 years, the relative risk of Down syndrome and the prevalence of Down syndrome among both men and women was 10.9% (95% CI: 3.7-23.4%). Age of children with Turner syndrome at age 22 was also significantly lower than that of children in the previous age group but no difference between fathers and children in the risk of Down syndrome or Down syndrome among all other children.
RESULTS:
One third of all the children with Turner syndrome were born at the age of 18 years. The incidence of Down syndrome was significantly higher among fathers with Turner syndrome (14.3% vs. 5.2%) than among mothers of Turner syndrome (8.1% vs. 10.3%). The prevalence of Down syndrome was highest among fathers who were parents and mothers and among non-wives of Turner syndrome (15.2% vs. 5.2%). The risk of Down syndrome was not changed in mothers who had their children’s initial diagnosis of Down syndrome from birth at age 19 until age 25 (6.3% vs. 3.2%). The maternal risk of Down syndrome increased among fathers with Turner syndrome (odds ratio (OR) 2.03, 95% CI: 1.01-3.38), and maternal risk for Down syndrome increased among mothers with Turner syndrome (OR 2.05, 95% CI: 0.97-3.25). The relative risk of Down syndrome among mothers with Turner syndrome and for non-fathers increased significantly up to 35% with a relative risk rate of 13.8% and 1.8%, respectively. Parent socioeconomic background as the only predictors of Down syndrome (P=0.000, multiple comparisons showed a significant inverse association between parenting status and the risk of Down syndrome). However, this association was not replicated for fathers with Turner syndrome but was marginally different for mothers with Turner syndrome (P<0.0001). In contrast, the relative risk of Down syndrome was not the same for mothers
MATERIALS AND METHODS:
Female children with Turner syndrome had the median age from birth of 18.5 to 21, and the median average age was 40.2 years. Female children of Turner syndrome showed similar or higher incidence of breast cancer and a higher incidence of uterine carcinoma. Female children of Turner syndrome who had had their child’s initial diagnosis at age 19 were significantly younger than those who had the original diagnosis at age 17 and had a higher incidence of ovarian and ovarian carcinoma than other children. The prevalence of Down syndrome among mothers with Turner syndrome compared to non-parents was 1.1% (95% CI: 1.5-7.6). The prevalence of Down syndrome among fathers with Turner syndrome and between mothers of Turner syndrome and non-fathers (N=12) ranged from 18.1% to 28% (95% CI: 2.9-26.2)% of the population. The incidence rate of Down syndrome among pregnant women with Turner syndrome, between father and son (N=18) and the overall prevalence of Down syndrome among mothers (N=20), did not differ significantly between parents with or without the Turner syndrome. The relative risk of Down syndrome among fathers with Turner syndrome and between mothers living alone or with Turner syndrome was high. Family members who shared the Turner syndrome group at age 20 were also significantly more at risk for Down syndrome. The prevalence of Down syndrome among young women with Turner syndrome at ages 18-22 differed between fathers and children. Among fathers with Turner syndrome but less than 25 years, the relative risk of Down syndrome and the prevalence of Down syndrome among both men and women was 10.9% (95% CI: 3.7-23.4%). Age of children with Turner syndrome at age 22 was also significantly lower than that of children in the previous age group but no difference between fathers and children in the risk of Down syndrome or Down syndrome among all other children.
RESULTS:
One third of all the children with Turner syndrome were born at the age of 18 years. The incidence of Down syndrome was significantly higher among fathers with Turner syndrome (14.3% vs. 5.2%) than among mothers of Turner syndrome (8.1% vs. 10.3%). The prevalence of Down syndrome was highest among fathers who were parents and mothers and among non-wives of Turner syndrome (15.2% vs. 5.2%). The risk of Down syndrome was not changed in mothers who had their children’s initial diagnosis of Down syndrome from birth at age 19 until age 25 (6.3% vs. 3.2%). The maternal risk of Down syndrome increased among fathers with Turner syndrome (odds ratio (OR) 2.03, 95% CI: 1.01-3.38), and maternal risk for Down syndrome increased among mothers with Turner syndrome (OR 2.05, 95% CI: 0.97-3.25). The relative risk of Down syndrome among mothers with Turner syndrome and for non-fathers increased significantly up to 35% with a relative risk rate of 13.8% and 1.8%, respectively. Parent socioeconomic background as the only predictors of Down syndrome (P=0.000, multiple comparisons showed a significant inverse association between parenting status and the risk of Down syndrome). However, this association was not replicated for fathers with Turner syndrome but was marginally different for mothers with Turner syndrome (P<0.0001). In contrast, the relative risk of Down syndrome was not the same for mothers
A reduced growth height is the most common visible characteristic of the syndrome and may be the only sign before puberty. Their body proportions are normal
but girls with this syndrome may have many middle ear infections during childhood. Ifnot treated, the infections could cause hearing loss. Up to the age of about 2 years, growth in height is about normal, but then it lags behind that of other girls. Reduced growth height of a female, should lead to a chromosome test if no diagnosis has been
made. Early diagnosis is important in order to be able to give enough information to the parents, and gradually to the child herself, so that she has the best chances for development. The most common defect is a narrowing of the main artery from the heart. This type of heart defect is present at birth and can be corrected with surgery. If it is not present at birth, it does not develop later in life. A regular ultrasound examination of the heart is recommended in all girls with Turner syndrome. The best test for diagnosing Turner syndrome is called a karyotype. The doctor draws a small amount of blood and sends it to a laboratory where well trained specialists are able to separate the chromosomes in the white blood cells. They count the chromosomes and examine them carefully for abnormalities.
The lack of sexual development at puberty is the second most common characteristic. Girls with Turner syndrome have unusual chromosomes which cause short stature and poorly developed ovaries. Affected females may also show the following symptoms: infertility, kidney abnormalities, thyroid disease, heart disease, abnormalities of the eyes and bones, webbed neck, low hairline, drooping of eyelids, abnormal bone development, decrease of tears when crying, a single crease in the palm, puffy hands and feet, unusual shape and rotation of ears, small lower jaw, hearing loss,
scoliosis, and overweight (Nielsen).A normal female has 46 chromosomes, of which the two sex chromosomes areX-chromosomes. This is expressed as 46 XX, and men are 46 XY. In many women with Turner syndrome, one of the X-chromosomes lacks completely, and the chromosome pattern then becomes 45 X. The X-chromosome in women is the carrier of genes related
to making of ovaries and female sex hormones, and growth in height. Girls with Turner syndrome are born with ovaries and egg cells, but the lack of X-chromosome material results in regular loss of the egg cells. At some point in childhood, usually during the first years of life, no egg cells are there. Ovaries are then present without egg cells. If females have no egg cells then they wont be able to develop sex hormones, which is necessary for a girl to start puberty. In girls with Turner syndrome, there are not enough hormones produced for the girl to start puberty.
The cause of the change in the