When monosomy X is the cause, the chromosomal abnormality is a random event during the formation of reproductive cells in the person’s parent. Most instances of Turner syndrome are not inherited. With increased awareness of prenatal ultrasound scans, the prevalence of Turner syndrome at birth is decreasing this is because some mothers carrying fetuses with Turner syndrome choose to terminate the pregnancy. The occurrence of Turner syndrome is almost the same in different ethnicities and different countries. However, the true prevalence remains unknown as many patients with a mild phenotype may remain undiagnosed or are diagnosed late in adulthood. EpidemiologyĪs per the literature, Turner syndrome is seen in about 1 in 2000 to 1 in 2500 live female births. Turner syndrome is usually not inherited but is a random event during reproduction. Although not a cause of Turner syndrome, the SHOX (short stature homeobox-containing gene on the X- chromosome) is associated with the short stature found in Turner syndrome. Some patients with Turner syndrome can have a Y chromosome mosaicism. # Xp or Xq deletion, where the deletion of part of the short arm of the X chromosome takes place.# Ring chromosome, where a part of the ends of short and long arms of the X chromosome is missing.# Isochromosome Xq, where there are two copies of the long arm of the chromosome that are connected head to head.Some types of anomalies in the X chromosome that can lead to a nonfunctioning X chromosome are as follows : The other 50% of the population has a mosaic chromosomal component (45,X with mosaicism). About half of the population with Turner syndrome have monosomy X (45,XO). Turner syndrome results from a deletion or the non-functioning of one X chromosome in females. It results when one of the X chromosomes is missing, partially or completely. It is the most common sex chromosomal abnormality found in females. Turner syndrome, also referred to as congenital ovarian hypoplasia syndrome, was first described by Henri Turner, an Oklahoma physician in 1938. Explain the importance of improving care coordination amongst the interprofessional team to enhance the delivery of care for patients with Turner syndrome.Summarize the evaluation and treatment aspect of Turner syndrome.Describe the etiology of Turner syndrome.Review the typical clinical symptoms and signs of Turner syndrome.This activity describes the clinical manifestations, complications, evaluation, and management of Turner syndrome and highlights the role of the interprofessional team approach in managing patients with this condition. Alternatively, one can ask the patient to try to touch the chin with the tongue.Turner syndrome, also referred to as congenital ovarian hypoplasia syndrome is the most common sex chromosomal abnormality found in females. A lingual protrusion can be carried out by holding the suspected cyst between the thumb and index finger and then asking the patient to stick out the tongue as forcefully as possible. Hence, they can be differentiated from the thyroid by their unique ability to rise with protrusion of the tongue (because of their firm attachment to the tongue’s base). Still, since they are thyroidal in origin, they typically ascend with swallowing. Thyroglossal cysts may at times be just off the midline, pushed laterally by the convexity of the underlying thyroid cartilage and hyoid bone. These usually present as a tense, nontender, mobile, and nonlobulated midline mass, with acute tenderness and fluctuation, suggesting spontaneous hemorrhage or infection. In a few patients, this tract may even harbor a cyst or a fistula.Īlthough a thyroglossal cyst can occur anywhere along the path of the duct, most are found near the hyoid bone and thyrohyoid membrane (i.e., under the deep cervical fascia). In some subjects, however, it may persist as an anomalous tract connecting the foramen cecum to the thyroid isthmus. The duct usually disappears in the adult, leaving only a pit at its site of departure (the foramen cecum of the tongue). A swelling in the remnant of the thyroglossal duct, which in the embryo connects the thyroid to its point of origin at the base of the tongue.
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