Early Diagnosis Brings Hope To Little Girl With Turner Syndrome

For the parents of three-and-a-half-year-old Meher (name changed), a cheerful child living in Sector 22, Noida, life was full of joy — except for one persistent concern. Unlike her peers, Meher wasn’t growing as expected. Her height remained well below the normal range - 90cm which is less than the normal 100cm - leaving her parents puzzled and worried.

Meher was recently diagnosed with Turner Syndrome, a rare genetic condition affecting only females, thanks to early detection at the Post Graduate Institute of Child Health (PGICH), Noida in Uttar Pradesh.

Advanced Quantitative Fluorescent Polymerase Chain Reaction (QF-PCR) test was conducted in-house on her by the department’s team and the rapid molecular diagnostic technique confirmed monosomy X — the absence of one X chromosome, a hallmark of Turner Syndrome. The condition has no cure. Treatment involves managing hormone levels and other health conditions, Dr. Mayank Nilay who led the team told The Health Outlook.

He explained that the rare chromosomal condition occurs in about 1 in every 2,500 live female births. Caused by the complete or partial absence of one of the X chromosomes, Turner Syndrome can lead to a range of health challenges — most notably stunted growth, delayed puberty resulting into infertility, and sometimes, heart or kidney problems.

Early diagnosis is critical in managing the condition and ensuring a better quality of life, said Dr. Mayank Nilay,

“This is the first confirmed case of Turner Syndrome diagnosed using our QF-PCR technology,” added Dr. Dinesh Sahu, Research Scientist at PGICH. “The test offers fast, accurate, and affordable screening for chromosomal disorders like Turner Syndrome, significantly reducing waiting time and helping initiate timely treatment.”

Presently, AIIMS Delhi and SGPGIMS Lucknow offer such advanced testing in-house in the government sector.

Following Meher’s diagnosis, a comprehensive multidisciplinary care plan is now in place. A dedicated team, including Dr. Bhanu, Pediatric Endocrinologist, and Dr. Mayank, will oversee her growth hormone (GH) therapy and ongoing monitoring.

“This diagnosis came at a critical stage,” said Dr. Mayank Nilay. “Starting GH therapy early can significantly enhance growth outcomes and help the child lead a healthy, fulfilling life. With timely initiation of GH therapy, we anticipate Meher could reach a height of over 150 cm in adulthood.”

For Meher’s parents, the diagnosis was a turning point — a ray of hope. “In a private hospital, this test would have cost us more than Rs15,000 — something we simply couldn’t afford,” said her father. “We are truly grateful to PGICH for providing access to such advanced care for families like ours.”

Dr. Mayank Nilay emphasized the importance of early awareness. “Parents should closely monitor their child’s growth. If your child appears to be falling behind in height or exhibits unusual physical features, consult your paediatricians promptly,” he advised.

“Therapies like GH treatment are most effective when started early. Children with Turner Syndrome often need regular follow-ups to prevent associated health complications,” he added.

In fact, the recently installed Genetic Analyzer at PGICH — operational for just a few months — has already enabled genetic testing for nearly 20 children. The team has tested for other conditions like, Down Syndrome, Beta Thalassemia, Spinal Muscular Atrophy (SMA) and Klinefelter Syndrome.

“We are grateful to the Government of Uttar Pradesh for supporting this vital addition,” said Prof. Dr. AK Singh, Dean of PGICH.

“Our mission is to ensure that the latest medical technology reaches every child who needs it — regardless of their background.”

He added that the facility now conducts specialized genetic testing for rare, single-gene disorders, with families even sending samples from distant states like Odisha. “We want every child — no matter how remote or economically disadvantaged — to have access to world-class care. Genetic testing can help parents as well as doctors plan early treatment and management for the child” Dr. Singh affirmed.

Now, with a clear diagnosis and the right treatment in place, Meher finally has the chance to grow up healthier, with dignity, and the opportunity to live a life just like any other child.