Genetics

What is Turner Syndrome or Turner Syndrome



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Turner syndrome is a chromosomal abnormality which is precipitated by the complete absence or incomplete nature of the X chromosome. The affected individuals would most likely be females as the underlying deficiency is in the X chromosome. The researchers have gathered that about 98% of fetuses with turner syndrome will undergo spontaneous miscarriage and thus the resulting 2% will account for 1/2500 live births of turner syndrome.

The normal karyotype of the chromosomal arrangement of a female would be 46,XX which means that the person has 46 chromosomes and the last pair is a XX. In males this would be XY. In turner syndrome the karyotype will be 45,X.

In certain instances, some individuals with turner syndrome will have both 45,X as well as 46,XX karyotypes and is described as the mosaic pattern. They may display less turner characteristics and will be mildly affected.

The underlying cause for this chromosome abnormality is not yet understood. But, it is probable that the mechanism would be a random error occurring at the time of formation of the eggs or else at the time of early embyogenesis.

Females with turner syndrome will present with many symptoms and some of them would be,

Short stature Shielded or broad chest Webbed neck Swelling of the hands and feet Amenorrhea or the absence of menstruation Streaky or non functioning gonads / ovaries Low hair line Low set ears Obesity Cubitus vulgus or reversal of the normal female angle at the elbow

Apart from these, there are many other symptoms and the definitive diagnosis can be made by doing a karyotyping or by doing a amniocentesis before giving birth to the child.

Turner syndrome could be associated with other medical and surgical complications and some of them would be,

Heart defects or abnormalities Abnormal thyroid functions Renal disease Diabetes Osteoporosis Infertility...etc.

Thus, in order to avoid these complications, these patients need to be started on hormonal treatment from the early stage of their lives. These treatment modalities will include,

Introducing growth hormones Estrogen therapy

Apart from the above treatment modalities, the patients will also require genetic counseling in order to cope with their lives and maintain their confidence in living purposefully.

Patients with turner syndrome are not mentally retarded. But, researches have indicated the presence of poor intellectual performance within these groups and thus focus the attention on the need to address this issue.

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