Case Reporton Turners Syndrome in North Karnataka

Abstract

Turner syndrome (TS) is a common chromosomal disorder. TS also known as Ulrich-TS. Gonadal dysgenesis, 45X is a condition in which there is partly or completely missing X chromosome in a female. The main clinical features of TS are swollen hands and feet, wide, and webbed neck. A combination of the following symptoms may be seen in older females: Absent or incomplete development of puberty (sparse pubic hair and small breasts), broad and shield like chest, drooping eyelids. TS frequently seen in young infants. Our case is a 10-year-old girl with TS-specific clinical hallmarks, with the symptoms of short stature, wide shield like chest, drooping eyelids. She visited our hospital because of her neck swelling, pain on/off since 1 month. In our study, we report both clinical and cytogenetic investigations, which show that patient is suffering from TS. This type of syndrome is very rare in our region.