A Family Doctor's Tale - TURNER'S SYNDROME

DOC MY CHILD HAS TURNER'S SYNDROME

Turner's Syndrome is an inherited disorder of the sex chromosone in which one of the X chromosone is missing(XO)

It occurs in females and is associated with amenorrhea and infertility.

The Causes of Turner's Syndrome:
It is an inherited disease caused by a missing X sex chromosone(XO) during cell division.

It occurs in 1 :2000 females births.

Normal females have two of the X sex chromosomes (XX)

Variations include mosaicism(XX/XO)

The ovary formation is affected result in streak ovaries and low estrogen production.

The symptoms of Turner's Syndrome are:

In infants there may signs of :

1.wide and webbed neck

2.swelling of feet and hands


Symptoms in older females:
1.short stature females

2.distinct facial features with small jaws, ptosis, low set ears,  short neck

3.broad shield like chest with small nipples

4.amenorrhea

5.infertility

6.sparse pubic hairs

7.Vaginal dryness


8.short fourth metacarpals

9.wide carrying angle of arm

10.autoimmune thyroid disease

11.abnormal urograms -horseshoe kidneys

12.heart problems like coarctation of aorta and bicuspid aortic valves

The diagnosis of Turner's Syndrome:
Diagnosis of Turner's Syndrome is often based on
1. medical examination and appearance

2. buccal smear for cells to test for chromosones

3.karyotyping

4.blood test for estrogen (low), follicle stimulating hormone(raised), luteinizing hormones (raised or normal)

5.Thyroid level may be low
TSH high

6.X-rays for cardiac and urinary abnormalities

7.ECG

8.MRI of the chest

9.Ultrasound of the kidneys

10.Pelvic examination

The complications of Turner's Syndrome are:

1. infertility

2.  Arthritis

3.   Cataracts

4.    Diabetes

5.   Hashimoto's thyroiditis

6.    Heart defects and coarctation of aorta

7.   High blood pressure

8.    Kidney problems

9.    Middle ear infections

10.    Obesity

The treatment of Turner's Syndrome:

1.female hormone treatment from the age of puberty

This may help to  trigger the growth of breasts, pubic hair, and other sexual characteristics of a female giving her confidence.

Thyroxine may be given for low thyroid hormones.

2.therapeutic support from:

a.physical

b.psychological

c.speech

d.occupational

e.behavioral therapists

3.Educational treatments:

a.Special services by special needs teachers to build up confidence in the child

b.Making tasks simpler by breaking up big tasks into smaller simpler tasks

Women with Turner syndrome  may consider using a donor egg if they wish to be pregnant.

The prognosis of Turner's Syndrome:
1.Short stature may not be changed


2.infertility even with treatment

3.Can lead normal life with treatment

Prevention of Turner's Syndrome:


Genetic counseling and testing for Turner's Syndrome