Mumbai: Minor detected with rare genetic condition | mumbai | Hindustan Times
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Mumbai: Minor detected with rare genetic condition

mumbai Updated: Nov 20, 2014 19:05 IST
Priyanka Vora

A six-year-old from Byculla, who was being raised as a girl, has been found to have a medical condition that obscured the child’s actual sex.

Doctors at Sir JJ Hospital, Byculla, who performed a genetic test said the child had a condition called testicular feminisation syndrome (TFS), in which a male is resistant to the actions of the androgen hormone. This does not allow the complete formation of male genitalia and the child gradually acquires female characteristics.

The child was born with female-like genitals that were not completely formed and was brought up as a girl. About a month ago, the child was unwell and was taken to a local physician, who found some abnormality in the genitals.

The doctors referred the child to a specialist at Sir JJ Hospital, who did a genetic test that showed the child had XY chromosomes like males.

The doctors then screened the child’s sisters – 14 and 18 years of age – as the condition is known to run in families and found they too had TFS. “Since many parents are unaware of this condition, they raise their children as females because their genitals appear like that of a girl child,” said Dr Nitin Dhende, padeiatric surgeon, Sir JJ Hospital, Byculla.

Dr Dhende’s team has used a part of the child’s large intestine to create a vagina. “We believe the child should continue to be raised as a girl. This will help her to have a healthy sexual life. Children with TFS develop female characteristics and hence it is advisable to raise them as girls,” said Dr Dhende.

Doctors said that the condition is fairly common and largely under-detected. “I must have operated a few dozen of such cases,” said Dr Santosh Karmarkar, padeiatric surgeon, Lilavati Hospital, Bandra adding that early detection will help such children lead near-normal lives. “If they are given hormone therapy, some of them can even have menstrual cycles,” he said.

Doctors said that parents are always in a dilemma as they feel the children are genetically male. “A person’s sexuality does not just depend on the genetic make-up and there are various other factors involved,” explained Dr Karmarkar.

The androgen hormone

Androgen is the broad term for any natural or synthetic compound, usually a steroid hormone, which stimulates or controls the development and maintenance of male characteristics

Testicular Feminisation Syndrome (TFS)

The X and Y chromosomes determine a person’s sex. Women have only X chromosomes while men have both
In TFS, a male, because of abnormalities in the X chromosome, is resistant to the actions of the androgen hormones, which in turn stops the forming of the male genitalia and gives female characteristics

The androgen insensitivity syndrome occurs in one out of 20,000 births and can be incomplete (various sexual ambiguities) or complete (the person appears to be a woman)