Turner syndrome is one of the most common chromosomal abnormalities, occurring in approximately 1 in 2000 live-born female infants.
In a normal individual, there are 23 pairs of chromosomes.
Out of these, 23rd pair is considered the sex chromosomes.
They could be either XX or XY.
In a healthy male, there is one X chromosome, which comes from the mother, and one Y chromosome, which comes from the father.
In a healthy female, there are 2 X chromosomes, each comes from the mother and the father.
In patients with turner syndrome, there is complete or partial absence of one X chromosome.
At birth, girls with turner syndrome will have swollen hands and feet because of lymphedema.
They also have a high tendency for congenital hip dislocation.
During childhood, girls with turner syndrome have short stature.
Due to ovarian failure, they have primary of secondary amenorrhea, or absent menstruation.
Beginning of pubic hair growth usually occurs at a normal age.
If ovarian failure occurs before puberty, they will have absent breast development.
Other characteristic findings include the following.
A high-arched palate.
In the eyes, they may have ptosis, strabismus, amblyopia, and cataracts.
Epicanthal folds may be present.
Posteriorly rotated or low-set ears.
Hypoplastic or hyperconvex nails.
A webbed neck.
Increased carrying angle.
Shield chest, where the chest appears to be broad with widely spaced nipples.
Scoliosis.
High blood pressure.
Cardiac murmurs.
And hypothyroidism.
Diagnosis of turner syndrome is made with a standard 30-cell karyotype analysis.
If a diagnosis of turner syndrome is made, patients should be evaluated for the complications of turner syndrome.
This includes hormonal studies, including sex hormones and thyroid hormones.
Celiac screening.
Screening for diabetes mellitus.
Renal studies.
Hearing and vision assessment.
And echocardiography for cardiac problems.

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