Turner GROUP

Syndrome 1
 Turner syndrome (TS): is a genetic
condition that only affects females. The
condition is caused by an abnormal
WHAT IS chromosome and affects about one in every
TURNER 2,500 baby girls, but is much more common
SYNDROME? among pregnancies that do not survive to
term (miscarriages and stillbirths). TS was
named after Dr Henry Turner, who
discovered the condition in 1938.
NORMAL BODY TURNER SYNDROME BODY
Possible symptoms in young infants include:
> Swollen hands and feet
> Wide and webbed neck and a low or indistinct hairline

A combination of the following symptoms may be seen in

older females: 
SYMPTOMS
> Absent or incomplete development at puberty 
> A broad chest and widely spaced nipples 
OF TURNER
> Drooping eyelids , Dry eyes SYNDROME
> Infertility
> No periods (absent menstruation) 
> Short height
> Vaginal dryness
> Arms that turn out slightly at the elbow
TURNER SYNDR OME I S T YPI CALLY
CAUSED BY NONDI SJU NCTION. • A PAI R
OF SEX CHROMOSOMES F AI LS T O
SEPARATE DURI NG THE F OR MAT I ON OF
AN EGG (OR SPER M), SO , WHEN AN
ABNORMAL EGG U NI TES WI TH A How do people get
NORMAL SPER M TO F OR M AN
EMBRYO, THAT EMBRYO MAY END U P Turner syndrome?
MISSING ONE OF THE SEX
CHROMOSOMES (X R ATHER THAN
XX). • ADVANCED MATER NAL AGE I S
NOT ASSOCIATED WI TH AN I NCR EASED
INCIDENCE.
 • About half of the cases are diagnosed
within the first few months of a girl's life by
the characteristic physical symptoms
Turner
(swelling of the hands and feet, or a heart
defect). Syndrome
Diagnosis
•Other patients are diagnosed in adolescence
because they fail to grow normally or go
through puberty.
• When the doctor suspects Turner syndrome,
a blood sample can be used to make a
karyotype and the diagnosis can be confirmed.
Turner
• Turner syndrome may be diagnosed during Syndrome
pregnancy with a chorionic villus sampling
Diagnosis
(CVS) or amniocentesis. • Alternatively, an
ultrasound can identify the disorder by its
physical symptoms before the baby is born
(signs of underdevelopment).
 • Hormone replacement therapy is the best way to
treat this disorder. Teenagers are treated with

Treatment growth hormone to help them reach a normal

height. They may also be given low doses of

for Turner androgens (male hormones which females also

Syndrome
produce in small quantities) to increase height and
encourage normal hair and muscle growth.  Some
patients may take the female hormone estrogen to
promote normal sexual development.
THANK GROUP
YOU! 1