Wednesday October 04, 2023

Most of 5,000 children born with ‘ambiguous genitalia’ in Pakistan can live normal life if identified and treated early: experts

October 02, 2022

Around 4,000 to 5,000 children are annually born in Pakistan with ‘ambiguous genitalia’, a rare condition in which an infant’s external genitals don’t appear to be clearly either male or female, health experts said, adding that over 70 percent of these babies are actually females, who sometimes appear to be boys due to the production of male hormones in their bodies.

Children born with ambiguous genitalia can live a normal and healthy life if they are diagnosed early with the help of latest diagnostic techniques, leading pediatricians said on Saturday, adding that minor surgeries and medication are required by most of children born with unclear genitalia to live like normal males or females on the basis of their genetic structure.

“Around 70 percent babies born with ambiguous genitalia are girls whose external genitalia appear to be boyish due to the production of male hormones in their bodies. If identified timely at hospitals by the health experts, a minor surgery is required to make them proper girls as they have all their internal organs of females. Following surgery and taking some medicines, these females can marry and even bear children,” said Prof Dr Jamal Raza, Pakistan’s leading paediatric endocrinologist, while talking to The News.

Unfortunately, most of the time such babies with ambiguous genitalia are wrongly declared as boys by untrained and unqualified midwives or mothers-in-law, Prof Jamal Raza deplored and adding that the lives of such children is devastated due to wrong gender assignment at the time of birth.

“The second category is of babies who are actually males but their male organ is not formed due to lack of production of male hormones. Percentage of such babies is around 20 to 25 percent and they are more difficult to treat as their male organs are very hard to reconstruct through surgeries,” explained Prof Jamal Raza, who is the executive director at the Sindh Institute of Child Health (SICH).

He maintained that children born in this category are very hard to be identified and sometimes they even die at early stage due to complications associated with their internal organs and body systems.

“The third and very rare category is of children who are called intersex or hermaphrodite who have both male and female internal organs, but their percentage among children born with ambiguous genitalia is only four to five percent,” Prof Jamal Raza said and added that in order to assign sex to such babies, genetic tests are performed and other methods are used to help them live a normal life.

But the vast majority of children born with ambiguous genitalia can be treated at early stages and they can live a physically and mentally healthy life, he asserted.

As far as people moving on the streets, begging and indulging in other activities are concerned, he said most probably they are physically males, who are given or themselves use female hormones to appear like females while they also dress like females. “As they are not physically females, so they can be identified with their male characteristics including voice, appearance and physical structure,” he added.

Another senior health Dr Zulfiqar Bhutta, co-director at the Centre for Global Child Health, The Hospital for Sick Children in Canada, says around five million births take place annually in Pakistan, and the proportion of births with ambiguous genitalia generally range from 0.02-0.05 percent.

“The true figures in Pakistan are unknown and cannot be gleaned from hospital figures but are likely around 0.03-0.04% (around 1,500-2,000 cases annually). Of course, these are recognizable (by professionals). Disorders of sexual development are more common,” he added.

Several senior gynecologists, including Dr Haleema Yasmin from Jinnah Postgraduate Medical Centre (JPMC), Dr Afshan Shahid from the Dow University of Health Sciences (DUHS) and Prof Dr Syeda Batool Mazhar from Islamabad, said the exact data of children born with ambiguous genitalia is missing as this is not reported by families.

They said only hospital deliveries are reported and only four to five cases in a year are seen at health facilities like the JPMC, DUHS or PIMS Islamabad. They added that if diagnosed and identified early, the majority of these children can be assigned their genetic sex or provided gender identity and they can live a normal life.

“It is a very difficult time for parents when a doctor at health facility tells them that he or she is unable to tell whether their child is a boy of a girl because the baby’s genitalia are not clear. In these cases, we do the Karyotype test, which is chromosome test which can show whether a newborn is a boy or a girl in the rare cases where it isn’t clear,” said Dr Afshan Shahid, a leading gynecologist at the DUHS Karachi.