Turner Syndrome is due to a chromosomal abnormality in which all or part of one of the sex chromosomes is absent or abnormal. The most common form is 45, XO. The missing or altered X chromosome of Turner syndrome causes errors during fetal development of the ovaries with subsequent inadequacy of estrogen production to support reproductive and sexual maturation.
Short stature is a common physical characteristic among these patients. These females generally find their maximum height approximately 20 cm below that of the average female.
Shield, or broad, chest is a characteristic physical abnormality in these patients with related, widely-spaced nipples.
Cystic hygromas are common physical abnormalities in Turner syndrome that are due to congenital lymphatic malformations. Cystic hygromas are benign, but can be disfiguring with extra folds of skin extending from the tops of the shoulders to the sides of the neck. This provides Turner syndrome patients with their characteristic webbed neck look.
Lymphedema of the hands and feet are common symptoms of Turner syndrome.
Turner Syndrome is characterized by abnormal ovarian development during embryonic growth and followed by inevitable, premature ovarian failure with the subsequent loss of reproductive functions.
With ovarian dysgenesis, the immature and malformed gonadal tissue becomes functionless and fibrous, attracting the moniker, streak gonads
Estrogen is primarily produced by the ovaries; however, it is insufficiently produced in Turner syndrome due to ovarian dysgenesis and leads to many of the clinical signs and symptoms found in these patients.
Ovarian dysgenesis leads to inability to produce adequate estrogen levels, and consequently, a loss of negative feedback regulation on the production of FSH and LH.
Ovarian dysgenesis leads to decreased estrogen levels, and consequently a loss of negative feedback regulating the production of FSH and LH.
A dysgerminoma is a malignant germ cell tumor occurring in the ovaries. Women with Turner syndrome are at an increased risk for developing dysgerminomas.
A bicuspid aortic valve is a congenital condition where two of the aortic valvular leaflets fuse during development, resulting in a valve that is bicuspid instead of tricuspid. Up to 15% of adults with Turner syndrome have bicuspid aortic valves. This predisposes the valve to early failure and calcification, leading to valvular dysfunction via either stenosis or regurgitation.
Preductal coarctation of the aorta is a congenital narrowing of the aorta proximal to the ductus arteriosus. This coarctation occurs when an intracardiac anomaly during fetal development decreases blood flow through the left side of the heart, leading to hypoplastic maturation of the aorta.
A horseshoe kidney is a congenital disorder where the inferior poles of the kidney fuse together during development, forming a horseshoe-shape. Horseshoe kidney is often asymptomatic.
Women with Turner syndrome will experience menopause before menarche as a result of the ovarian dysgenesis and inability to properly produce and regulate the interplay between GnRH, FSH, LH and estrogen as the underdeveloped and malfunctioning ovaries cannot manufacture estrogen sufficiently.
Amenorrhea is the absence of a menstruation in a woman of reproductive age. Turner syndrome is a cause of primary amenorrhea, with menstruation never satisfactorily initializing due to inadequate estrogen production from ovarian dysgenesis.
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