Turner's Syndrome

Question.

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.

Answer

4. 45X.

Reference

Robbins 6^th Edition Page 174

Harrison 15^th Edition Chap 66, 338

Quality

High School

Status

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

QTDF

Standard 10^th CBSE Books !!!

Discussion

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

Explanation

1. 47, XX +18 is Edwards’ Syndrome

2. 46,XXY ??

3. 47,XXY is Klinefelter’s Syndrome

4. 45X. is the Genotype of Turner

Comments

MC Cause of Death in Turner is CVS Disorders

One of the Important Causes of Primary Amenorrhea is Turners Syndrome

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