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Saturday, February 14, 2004

Turner's Syndrome


202. A nineteen year old female with short stature wide spread nipples and primary amenorrhoea most likely has a karyotype of :

1. 47, XX +18

2. 46,XXY

3. 47,XXY

4. 45X.


4. 45X.


Robbins 6th Edition Page 174

Harrison 15th Edition Chap 66, 338


High School


Repeat – Seen this is Pre Medical / Pre Dental Q Papers !!!


Standard 10th CBSE Books !!!


In Turner, The somatic abnormalities primarily involve the skeleton and connective tissue.

· Lymphedema of the hands and feet,

· webbing of the neck,

· low hairline,

· redundant skin folds on the back of the neck,

· a shieldlike chest with widely spaced nipples, and

· growth retardation are features that suggest the diagnosis in infancy.

· Micrognathia,

· epicanthal folds,

· prominent low-set or deformed ears,

· a fishlike mouth, and

· ptosis may be present.

· Short fourth metacarpals are present in half,

· and 10 to 20% have coarctation of the aorta.

· In adults, the average height rarely exceeds 150 cm.

Associated conditions include

· renal malformations,

· pigmented nevi,

· hypoplastic nails,

· tendency to keloid formation,

· perceptive hearing loss,

· unexplained hypertension,

· glucose intolerance, and

· autoimmune thyroid disease


1. 47, XX +18 is Edwards’ Syndrome

2. 46,XXY ??

3. 47,XXY is Klinefelter’s Syndrome

4. 45X. is the Genotype of Turner


MC Cause of Death in Turner is CVS Disorders

One of the Important Causes of Primary Amenorrhea is Turners Syndrome


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