Background
Turner’s syndrome is a genetic disorder that occurs in 1 in every 2,500 female births. Though it occurs in about 3% of fetuses, 99% of these fetuses are spontaneously aborted[1]. Turner’s syndrome can be defined as a combination of phenotypes with varying expressivity along with the complete or partial loss of an X sex chromosome[2]. Symptoms of Turner’s syndrome include, but aren’t limited to short stature, glucose intolerance, broad chest and widely spread nipples, amenorrhea, webbed neck, aortic valve stenosis, visual impairments, hearing loss, problems with concentration, and nonverbal learning issues[3]. Not all individuals will present with the same combination of symptoms or with the same expressivity[4]. About half of the 2,500 births have only one X chromosome. This is called monosomy X (45,X). About 5 to 10 percent of children born have a copy of the long arm (q) of an X chromosome this is called an isochrome. This happens when a duplication of the long arm (q) and deletion of genetic material in the short arm(p) happen at the same time. This results in a partial trisomy in the q isochrome and a partial monosomy of the genes in the lost short arm. Most of the rest of the girls have …show more content…
The most common structural malformations are the contraction of the bicuspid valve which lies between the left atrium and left ventricle and the aorta. After the diagnosis of Turner’s syndrome, all patients are recommended to visit a clinic so that they can receive an echocardiogram to check for any heart malformations[5].
Endocrine Manifestations
5 to 10 percent of patients with Turner’s syndrome often have a decreased level of thyroid function. The average age of onset is around 30 years of age, so the measurement of thyrotropin levels and the screening of the thyroid should begin as early as age
Turner’s syndrome is a genetic disorder that occurs in 1 in every 2,500 female births. Though it occurs in about 3% of fetuses, 99% of these fetuses are spontaneously aborted[1]. Turner’s syndrome can be defined as a combination of phenotypes with varying expressivity along with the complete or partial loss of an X sex chromosome[2]. Symptoms of Turner’s syndrome include, but aren’t limited to short stature, glucose intolerance, broad chest and widely spread nipples, amenorrhea, webbed neck, aortic valve stenosis, visual impairments, hearing loss, problems with concentration, and nonverbal learning issues[3]. Not all individuals will present with the same combination of symptoms or with the same expressivity[4]. About half of the 2,500 births have only one X chromosome. This is called monosomy X (45,X). About 5 to 10 percent of children born have a copy of the long arm (q) of an X chromosome this is called an isochrome. This happens when a duplication of the long arm (q) and deletion of genetic material in the short arm(p) happen at the same time. This results in a partial trisomy in the q isochrome and a partial monosomy of the genes in the lost short arm. Most of the rest of the girls have …show more content…
The most common structural malformations are the contraction of the bicuspid valve which lies between the left atrium and left ventricle and the aorta. After the diagnosis of Turner’s syndrome, all patients are recommended to visit a clinic so that they can receive an echocardiogram to check for any heart malformations[5].
Endocrine Manifestations
5 to 10 percent of patients with Turner’s syndrome often have a decreased level of thyroid function. The average age of onset is around 30 years of age, so the measurement of thyrotropin levels and the screening of the thyroid should begin as early as age