Causes and risk factors
Normally there are 46 chromosomes in every cell of the body. Females possess two X chromosomes and males have X and Y chromosomes. These chromosomes help to determine whether the child will develop a male or female’s sex characteristic. In case of females they inherit one X chromosome from mother and one from father (XX), while in case of males they inherit one X chromosome from mother and Y chromosome from father (XY).However girls with triple X syndrome possess three X chromosomes. Hence the girl has 47(XXX) chromosomes. The cause for this abnormality is not known. It is seen to be inherited from the mother.
Clinical presentation:
Most of the times the patient can remain asymptomatic. Females with this chromosomal defect have abnormal physical features. They have an unusual height, the size of the head can be small or there can be fold on the inner side of the eyelids. Learning difficulties are seen in such patients. The milestones are delayed. Their intellectual, behavioral and emotional levels are hampered. These children are weak both physically and mentally along with delayed development of the fine and gross motor movemenets.Socialisation and conducting their day to day activities becomes a difficult job. In some of the cases the patient faces kidney diseases and seizures. Premature development of secondary sexual characteristic occurs.Other symptoms pertaining to other systems of the body can also occur.
Investigations
The diagnosis is done on the basis of the symptoms narrated by the patient and physical examination. As most of the patients remain asymptomatic diagnosis often becomes difficult. Chromosomal analysis of the blood sample is diagnostic tool. Genetic testing can also be done.
Treatment
The treatment is planed as per the presenting symptoms. Medications for symptomatic relief is given. Genetic counseling of the parents and psychotherapy of the patients plays a major role in this. It comprises of counseling and interpersonal therapy. Support and care by family and friends will help the patient to cope up.
Other modes of treatment:
Certain other modes of treatment can also be helpful in coping up the symptom. Taking into consideration the symptoms in holistic way, homoeopathy can offer a good aid for the relief of the symptoms.
Facts and figures:
Triple X syndrome occurs in every 1 in 1000 females.
