More research needed to study extra chromosome in men: Doctors

A recent study reveals that men with an extra X or Y chromosome are at a higher risk of suffering from Type-2 diabetes and other diseases.

ByChetana Belagere

Published Jul 12, 2022 | 1:25 PMUpdatedJul 25, 2022 | 2:20 PM

One in 500 men could be carrying an extra X or Y chromosome, says study.

Indian doctors have called for more studies after recent research from the Universities of Cambridge and Exeter found that around one in 500 men could be carrying an extra X or Y chromosome, which puts them at risk for several common diseases.

The research states that such men are likelier to suffer from Type-2 diabetes, are six times more prone to developing venous thrombosis, three times likelier to experience pulmonary embolism and are also four times likelier to suffer from chronic obstructive pulmonary disease.

Demand for similar studies 

Doctors from Bengaluru agree that there has been such prevalence in the southern states of India, but a detailed study is required to better understand the phenomenon.

“The findings of the extent of extra chromosomes in males are relatively new. It was not well known that the prevalence of extra chromosomes was as common as this study suggests,” said Dr Vivek Anand Padegal, director of pulmonology at Fortis Hospitals on Bannerghatta Road in Bengaluru.

He added, “It will be very interesting to note if similar findings are found in the Indian population.”

Rare practice

Padegal also said chromosome analysis is rarely done in clinical practice.

“Analysis of chromosomes will help us understand patients, especially with unexplained lung conditions such as COPD and Pulmonary embolus,” he added.

According to Sakra World Hospital senior consultant Dr Sachin Kumar, “This rare condition is witnessed about once or twice every year.”

Extra features

According to the study, men with the extra chromosome have additional features, as they have both male and female chromosomes.

Feminine features are noticeable if they have an extra X chromosome.

“Such males may have a different body structure with mixed features. Some have long legs and possess a feminine voice and characteristics. Meanwhile, some of them have developmental abnormalities, including low IQ,” said the study.

Speaking to South First, paediatrician and physician Dr Sanjay Kumar of Shanti Hospital said, “This is not uncommon. In India, identification of this condition has happened only in rare cases.”

He added: “Many are not aware of this condition as it is not common, and hence not all doctors order chromosome analysis tests.”

Extra chromosome cases ‘rare’

Endocrinologist Dr Abhay Gundubatti of Sagar Hospitals said, “I have identified a few cases where children are sent by paediatricians for delayed puberty, or when men come with infertility issues. When a genetic test is done on them, they are found to have an extra X chromosome.”

Dr Hema Diwakar, an IVF expert and former chairperson of the Federation of Obstetric and Gynecological Societies of India, said, “Men diagnosed with an extra Y chromosome have no distinctive physical features but are found to be taller than boys of their age.”

She added: “They could also have high chances of infertility. We do conduct chromosome analysis on such men and have come across such cases.”