Turner’s syndrome

Investigation:

 A 16-year-old girl has been referred to the physician by a gynecologist for an abnormality in her karyotype. Study the karyotype and answer the following questions:

1. Identify the karyotyping abnormality.

• 45, X / 45, XO

1. Name the underlying clinical condition/Name the phenotype.

• Turner’s syndrome

1. Mention 6 (six) phenotypic abnormalities you may find in this patient.

1. Short stature
2. Fish mouth
3. Low set ears
4. Low hairline
5. Webbed neck
6. Widely spaced nipples
7. Shield chest
8. Wide carrying angle of elbows
9. Lymphedema of hands and feet

1. Write 2 (two) drugs to treat her. with indication

• High dose growth hormone (0.5) with oxandrolone / anabolic steroid (0.5) for short stature 
• Estrogen therapy therapy for pubertal development and maintenance of sexual characteristics

1. Mention 3 (three) parameters by which response to the treatment can be assessed.

• Serial measurement of vertical height/growth velocity 
• Onset of menses
• Appearance and growth of breast buds 
• Appearance and growth of pubic and axillary hair 
• USG of abdomen 

1. Mention 2 (two) findings on abdominal examination.

1. abdominal lump/gonadoblastoma, 
2. Horseshoe shaped kidney

1. What are the common cardiac associations? 

• Coarctation of aorta, 
• bicuspid aortic valve, 
• aortic root dila on, 
• CAD.

1. What other cytogenetic abnormalities can you expect in this case? 

• Mosaic forms: 45XO / 46 XX; 45XO / 46XY, 
• partial deletion of an X chromosome