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Turner syndrome:  

A common genetic disorder caused by abnormalities of the X chromosome

 

Dr Sampurna Roy MD                     July  2016

 


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Syn: 45,X syndrome ; Ullrich-Turner syndrome

Turner syndrome was first described by Henry Turner in 1938.

Turner syndrome (45X) is one of the more common genetic disorders affecting females, associated with abnormalities of the X chromosome, and occurs in 1 in 2500 live born females.

The hallmark of Turner's syndrome is small stature, primary amenorrhoea with delayed puberty and other congenital defects.

Diagnosis of the syndrome requires the combination of characteristic physical features, including short stature as well as partial or complete absence of an X chromosome.

 

21 common features of Turner's Syndrome

                    

1) Short stature

2) Web neck ( Extra folds of skin on the neck)

3) Low hairline at the back of the neck

4) Low-set ears

5) Infections of the middle ear (otitis media) usually in infants. There is a documented relationship between Turner syndrome and sensorineural hearing loss in adults.

6) Puffiness or swelling (lymphedema) of the neck, hands and feet.

7) Broad shield shaped thorax and widely spaced nipples.

8) Poor breast development

9) Skeletal abnormalities including cubitus valgus (elbow deformity), scoliosis, short 4th metacarpal

10) Narrow fingernails and toenails that are turned upward.

11) Primary amenorrhea.

12) Infantile external genitalia

13) Ovaries severely atrophied and fibrous (streak ovaries). 

14) Congenital heart disease, particularly aortic coarctation (narrowing of the large artery)

15) The incidence of aortic dissection is extremely common and occurs early in life and in pregnancy.

16) Skin changes, including an increased number of melanocytic nevi, hypertrophic scars and keloids.

17) Associated with autoimmune conditions including thyroid disease, inflammatory bowel disease, and diabetes

18) Kidney abnormality - Horseshoe kidneys or absence (agenesis) of a kidney in some cases.  This leads to increased risk of urinary tract infections and high blood pressure (hypertension).

19) Liver disease - Fatty liver

20) Thyroid disease - Hypothyroidism , Hashimoto's syndrome (autoimmune thyroiditis)

21) Intelligence is usually normal. Developmental delays, nonverbal learning disabilities may be present

 

 

 

 

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Dr  Sampurna Roy  MD

Consultant Histopathologist (Kolkata - India)

 

 


 

 

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