TURNERS SYNDROME

WHAT IS TURNERS SYNDROM?

Turner syndrome is a chromosomal condition
that alters development in females. Women with this
condition tend to be shorter than average and are
usually unable to conceive a child (infertile) because
of an absence of ovarian function

BACKGROUND:
Turner spent his life studying endocrinology, and
when he retired in 1969, he had more than 30
publications on topics such as disorders of the
anterior pituitary, androgen effects on testicular
descent and ovarian failure.

CAUSES OF TURNERS SYNDROME:

Most people are born with two sex chromosomes. A
boy inherits the X chromosome from his mother and
the Y chromosome from his father. A girl inherits one
X chromosome from each parent. If a girl has Turner
syndrome, one copy of the X chromosome is
missing or significantly changed.

The genetic alterations of Turner syndrome may be

one of the following:

Monosomy. The complete absence of an X

chromosome generally occurs because of an error
in the father's sperm or in the mother's egg. This
results in every cell in the body having only one X
chromosome.
Mosaicism. In some cases, an error occurs in
cell division during early stages of fetal
development. This results in some cells in the
body having two complete copies of the X
chromosome. Other cells have only one copy of
the X chromosome, or they have one complete
and one altered copy.
Y chromosome material. In a small percentage
of Turner syndrome cases, some cells have one
copy of the X chromosome and other cells have
one copy of the X chromosome and some Y
chromosome material.

SIGNS AND SYMPTOMS:

Almost all girls with Turner syndrome will grow up to

be shorter than average, with underdeveloped
ovaries.
Girls with Turner syndrome will also have distinctive
features and associated health conditions, some of
which may be apparent from birth.
They may be born with swollen hands and feet,
caused by a build-up of excess fluid in the
surrounding tissues. This is known as
lymphoedema, and it usually clears soon after birth.
Other features that may have developed in the
womb include:
thick neck tissue
swelling of the neck (cystic hygroma)
being a small baby
heart conditions
kidney abnormalities

DIAGNOSIS OF TURNERS SYNDROME:

If A family doctor or pediatrician suspects that the
female has Turner syndrome, a lab test will likely be
done to analyze chromosomes using cells from a
blood sample. The test results are a specialized

image (karyotype) that enables a specialist to count

and judge the condition of each chromosome in a
sample.

Prenatal diagnosis
A diagnosis is sometimes made during fetal
development. Certain features on an ultrasound
image may raise suspicion that baby has Turner
syndrome or another genetic condition affecting
development in the womb. Prenatal screening tests
that evaluate the baby's DNA in the mother's blood
(cell-free fetal DNA testing or noninvasive prenatal
screening) may also indicate an increased risk of
Turner syndrome.
additional tests to make a diagnosis before baby's
birth. One of two procedures can be performed to
test for Turner syndrome:

Chorionic villus sampling. This involves

removal of a small piece of tissue from the
placenta.

Amniocentesis. In this test, a sample of the

amniotic fluid is taken from the uterus.

TREATMENT:

Human growth hormone. If given in early

childhood, hormone injections can often increase
adult height by a few inches.
Estrogen replacement therapy (ERT). ERT can
help start the secondary sexual development that
normally begins at puberty (around age 12). This
includes breast development and the development
of wider hips. Health care providers may prescribe
a combination of estrogen and progesterone to
girls who havent started menstruating by age 15.
ERT also provides protection against bone loss.

Regular health checks and access to a wide variety

of specialists are important to care for the various
health problems that can result from Turner
syndrome.These include ear infections, high blood
pressure, and thyroid problems.

TRANSLOCATION IN TURNER SYNDROME:

A 16-year-old Turner syndrome patient with a
complex karyotype that includes a maternallyinherited balanced translocation between
chromosomes 4 and 16 and mosaicism of the

isochromosome Xq10. Her karyotype was 45, X,

t(4;16) (p15.2;p13.1)[9]/46, X, i(X) (q10),t(4;16)
(p15.2;p13.1) [91]. The karyotype of her father was
normal, whereas that of her mother had the same
balanced translocation and numerical abnormalities
of chromosome X and was designated as 45, X,
t(4;16)(p15.2;p13.1) [2]/ 46, XX, t(4;16)(p15.2;p13.1)
[93]/47, XXX, t(4;16) (p15.2; p13.1)[5]. The two
siblings of the patient also had the same reciprocal
translocation. We consider this to be the first such
patient with an inherited reciprocal translocation and
structural