Medical Technology

Doctors at Fortis Hospital, Mulund accurately characterize Diabetes type by diagnosinga rare underlying genetic problem

~The young patient was previously misdiagnosed with Type 1 Diabetes and was on medication for the past 4yrs to manage it ~

~ Upon re-evaluation at Fortis Hospital, Mulund, he was appropriatelydiagnosed to have Type 2 Diabetes caused by the rare genetic disorder~

A young boy of 16yrs from Mumbai was being treated for Type 1 Diabetes for the past 4yrs and was administered Insulin treatment to control the disease. Recently, he developed Viral Hepatitis-A infection and as his platelets dropped, he was rushed to Fortis Hospital, Mulund. With a history of Diabetes, he was referred to Dr SwetaBudyal, Consultant Endocrinologist & Diabetologist, Fortis Hospital, Mulund, who consulted with Dr. Anita Mathew, Infectious Disease Specialist & Dr Subhprakash Sanyal, Hematologist, at the hospitalto treat the boy for Diabetes.


The team of doctors performed further tests, and after physical examination found out that he was affected by anarrested puberty and had features of ‘Hypogonadism’(low testosterone). This led to conducting additional tests which further diagnosedwith the rare ‘Klinefelter Syndrome’, proven with chromosome studies.Klinefelter syndrome, a genetic conditionis caused by extra X (47 XXY instead of 46 XX) chromosomes in males, which leads to testosterone deficiency. It is said to affect physical and cognitive development and isfound in 1 in 500 -1000 males, making it extremely rare.

Due to delayed puberty and extra X chromosome,the boy grew about 183cm in height; this was unusual as both parents were not that tall.The test confirmed that it was due to the Klinefelter Syndromethat he had developedType 2 Diabetes and not Type 1, as previously diagnosed. Type 2 Diabetes is non-insulin dependent and can bemanaged with oral medications alone. The young boy is now receiving testosterone supplementation and has been moved to oral anti-diabetic pills. The Hepatitis was treated supportively and the boy also received medication forImmune Thrombocytopenic Purpura (low platelets), with subsequent normalization of platelets.

Speaking about the case,Dr SwetaBudyal, Consultant Endocrinologist & Diabetologist(Adult & Paediatric), Fortis Hospital, Mulund, said, “There are a lot of cases that get misdiagnosed as Type 2 Diabetes. The patients’ parents moved swiftly to seek appropriate medical aid, else, he would have been continued on Insulin when he has more suitable treatment options in the form of pills. The boy is doing well now and has to follow up every three to six months.”

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