Running head: TURNER’S SYNDROME 1
NR 283
Turner’s Syndrome (Monosomy X)
Chamberlain College of Nursing
NR 283 Pathophysiology
Introduction of Disease
Turner’s syndrome (TS) is described as a chromosomal condition that affects the
development of female characteristics. It is a syndrome that manifests with abnormalities in the
kidneys, heart, and skeletal system. This condition typically occurs in about 1 in 2,500 newborn
girls worldwide and is more common among fetuses that do not survive to term due to the
severity of some abnormalities (Cui, et al., 2018; Alveraz-Nava & Lanes, 2018).
Etiology
The cause of Turner’s Syndrome occurs when the X chromosomes are partially or
completely missing in females. Due to this missing genetic material, developmental delays, or
abnormalities take place before and after birth (Cui, et al., 2019). There are not, if any, risk
factors that contribute to how Turner’s syndrome happens. Besides being a female there are no
other risk factors. There is nothing that either one of the parents could have done that caused or
increased the risk of TS in their daughter. It is also noted that the parents, age, ethnicity, and diet
are all factors that are also unrelated to the conception of a child with Turner’s (Rieser &
Devenport, p. 5). There is no impact of age-related to Turner’s Syndrome and can be diagnosed
before birth, during infancy, during childhood and adolescence, and during adulthood. TS is
specifically an abnormality in the female sex chromosome thus it only affects the female sex. As
stated previously, there are no risk factors that can influence the abnormality in this chromosome
this includes the environment, chemical exposure, and lifestyle influences (Rieser & Devenport,
, TURNER’S SYNDROME 2
p. 5). Chromosomal disorders are normally not inherited. This is because an error occurred
during division, also known as nondisjunction, which results in reproductive cells having an
abnormal number of chromosomes (Genetics Home Reference, p. 28). The mutations of
chromosome X, missing or half, is the reason as to why Turner’s Syndrome exists today.
Pathophysiological Processes
There are multiple types of X chromosome abnormalities, which all can contribute to the
expression of Turner’s Syndrome. The most common cause is the entire X chromosome is
missing, also known as monosomy X (Hubert & VanMeter, p. 571). Some others include
mosaicism, which has three possible abnormal combinations. In mosaicism, it is indicated that
some cells have 46, XX, and others are 45, X (missing an X). However, there is another type that
is expressed as 45, X/46, XY. In this type of mosaicism, which occurs in a small percentage, they
have a little Y chromosome that can increase the risk of developing tumors in their internal sex
organ (Rieser & Devenport, p. 6). The last type of mosaicism is rare and is expressed as 45,
X/47, XXX. This happens when there are 45, X cells, and a second type cell which has an extra
chromosome (Rieser & Devenport, p. 6). The last type of chromosomal abnormality related to
TS is when the client has two X chromosomes, however, one of them is either incomplete or in a
different structure. Unfortunately, many of the pregnancies that have fetuses with TS
spontaneously abort. This has increased due to the increased risk of diseases of the nervous
system, digestive system, cardiovascular system, respiratory system, or genitourinary system
(Cui, et al., 2018).
Clinical Manifestations
Unless the mother decides to do an amniocentesis then there is no way to detect if the
child has Turner’s Syndrome until the clinical manifestation starts to express themselves. The
NR 283
Turner’s Syndrome (Monosomy X)
Chamberlain College of Nursing
NR 283 Pathophysiology
Introduction of Disease
Turner’s syndrome (TS) is described as a chromosomal condition that affects the
development of female characteristics. It is a syndrome that manifests with abnormalities in the
kidneys, heart, and skeletal system. This condition typically occurs in about 1 in 2,500 newborn
girls worldwide and is more common among fetuses that do not survive to term due to the
severity of some abnormalities (Cui, et al., 2018; Alveraz-Nava & Lanes, 2018).
Etiology
The cause of Turner’s Syndrome occurs when the X chromosomes are partially or
completely missing in females. Due to this missing genetic material, developmental delays, or
abnormalities take place before and after birth (Cui, et al., 2019). There are not, if any, risk
factors that contribute to how Turner’s syndrome happens. Besides being a female there are no
other risk factors. There is nothing that either one of the parents could have done that caused or
increased the risk of TS in their daughter. It is also noted that the parents, age, ethnicity, and diet
are all factors that are also unrelated to the conception of a child with Turner’s (Rieser &
Devenport, p. 5). There is no impact of age-related to Turner’s Syndrome and can be diagnosed
before birth, during infancy, during childhood and adolescence, and during adulthood. TS is
specifically an abnormality in the female sex chromosome thus it only affects the female sex. As
stated previously, there are no risk factors that can influence the abnormality in this chromosome
this includes the environment, chemical exposure, and lifestyle influences (Rieser & Devenport,
, TURNER’S SYNDROME 2
p. 5). Chromosomal disorders are normally not inherited. This is because an error occurred
during division, also known as nondisjunction, which results in reproductive cells having an
abnormal number of chromosomes (Genetics Home Reference, p. 28). The mutations of
chromosome X, missing or half, is the reason as to why Turner’s Syndrome exists today.
Pathophysiological Processes
There are multiple types of X chromosome abnormalities, which all can contribute to the
expression of Turner’s Syndrome. The most common cause is the entire X chromosome is
missing, also known as monosomy X (Hubert & VanMeter, p. 571). Some others include
mosaicism, which has three possible abnormal combinations. In mosaicism, it is indicated that
some cells have 46, XX, and others are 45, X (missing an X). However, there is another type that
is expressed as 45, X/46, XY. In this type of mosaicism, which occurs in a small percentage, they
have a little Y chromosome that can increase the risk of developing tumors in their internal sex
organ (Rieser & Devenport, p. 6). The last type of mosaicism is rare and is expressed as 45,
X/47, XXX. This happens when there are 45, X cells, and a second type cell which has an extra
chromosome (Rieser & Devenport, p. 6). The last type of chromosomal abnormality related to
TS is when the client has two X chromosomes, however, one of them is either incomplete or in a
different structure. Unfortunately, many of the pregnancies that have fetuses with TS
spontaneously abort. This has increased due to the increased risk of diseases of the nervous
system, digestive system, cardiovascular system, respiratory system, or genitourinary system
(Cui, et al., 2018).
Clinical Manifestations
Unless the mother decides to do an amniocentesis then there is no way to detect if the
child has Turner’s Syndrome until the clinical manifestation starts to express themselves. The
