What’s missing in T.N. for intersex babies? Genetic tests at government hospitals

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Nearly seven years ago, the Tamil Nadu government, in a historic move, banned sex-reassignment surgeries on intersex infants and children , with the aim of protecting their bodily autonomy. Doctors and activists, however, say the State, like the rest of the country, has a long way to go in improving its genetic infrastructure, which they argue would help with the diagnosis and understanding of variations in sex development in intersex children.

Sex-reassignment surgeries, or “genital-normalising” surgeries, are invasive, irreversible, and often unnecessary procedures that alter the ambiguous genital anatomy of infants with intersex traits or differences of sex development (DSD) to fit a binary male/female appearance. In 2019, following a Madras High Court ruling, the government issued a G.O. banning such surgeries unless the situation was life-threatening. It also mandated a panel comprising a paediatric surgeon/urologist, endocrinologist, social worker/psychologist/intersex activist, and a government representative to determine whether the situation was life-threatening and whether such a surgery was warranted.

There are several different types of DSD; while some may be apparent at birth, others may manifest only later, particularly around puberty. “Some DSDs do require further genetic investigations at birth. Therefore, there is a need for better genetic testing facilities,” explained M. Kathirvel, a clinical geneticist at Apollo Hospitals, Chennai.

One important test that needs to be performed in children born with intersex traits, is karyotyping. This is a test that examines the size, shape, and number of chromosomes in a sample of cells. It is essentially a preliminary confirmatory test that gives an overall picture and analysis of the infant’s chromosomes and can show patterns that are not clear from looking at its genital anatomy. However, even this is not available at present, in most government hospitals in T.N., and has to be outsourced to private labs.

A senior doctor from the Government Rajaji Hospital in Madurai, who works with intersex infants, told The Hindu that the hospital sees about one to two cases of children born with intersex traits every month. Surgical corrections are performed only in cases where they are absolutely required, such as in congenital adrenal hyperplasia (CAH) – some forms of which may cause an overproduction of male sex hormones (testosterone in a female), leading to dangerous levels of salt and fluid loss in the newborn.

However, he pointed out that better karyotyping and genetic testing facilities would greatly improve diagnostic and management outcomes (that include confirmation of XX/XY/mixed-type sex), and avoid inadvertent/irreversible gonad removal surgery for intersex children. Out of the 38 medical college hospitals in Tamil Nadu, only one – Institute of Child Health, Egmore, in Chennai, – has a dedicated genetic department, he said. “Before we can even get into complex genetic testing, we do not even have basic karyotyping testing facilities.