Rare hormonal disorder in siblings treated successfully at KS Hegde hospital

Rare hormonal disorder in siblings treated successfully at KS Hegde hospital

Mangalore Today News Network

Mangaluru, Sep 24, 2021: It was about 6 months back when a mother of two, from Uttar Kannada district, concerned about her 16 year old daughter’s overweight consulted Dr. Sreekrishna Acharya, chief endocrinologist of KS Hegde Hospital.  She was diagnosed with Cushings syndrome, a condition characterised by truncal obesity, moon facies, abdominal striae and hypertension, due to excess steroid in the body. The common causes for this condition are either pituitary tumours in the brain, tumours of the adrenal gland or excessive steroid usage. As detailed investigations failed to reveal any of these reasons, the endocrinologist suspected other rare causes of corticosteroid hormone excess.  On further work-up she was found to have primary pigmented nodular adrenocortical disease(PPNAD), an extremely rare disorder with a prevalence of less than one in ten lakhs. It is characterized by small to normal sized adrenal glands containing multiple small cortical pigmented nodules.  In such a case, surgical removal of the adrenal glands will cure the Cushing’s syndrome. The girl was then referred to Dr. Rajeev TP, chief urologist of KS Hegde hospital for implementing the decision of removal of the adrenal glands.

 

The standard treatment for PPNAD is bilateral laparoscopic adrenalectomy, the process by which both the adrenal glands are removed via a keyhole surgery.  Adrenal glands are two tiny yellowish fat like structures, located deep inside the abdomen on either side.   Surgical removal of the adrenals which lie in the vicinity of the kidneys, pancreas and great vessels of abdomen is a challenge.  
 The single-stage laparoscopic transperitoneal bilateral adrenalectomy was performed by the surgical team headed by Prof. Dr. Rajeev TP, with the assistance of  Dr. Suraj and Dr. Narendra from the department of Urology . The procedure was done under general anaesthesia and lasted for 6 hours following which the patient had a smooth post operative recovery. The anaesthesia team included Dr. Sripada Mehandale, Dr. Nikhil MP and Dr. Gandeeva.  The patient recovered well and within a span of a few weeks, she lost her excess weight. Genetic testing revealed a chromosomal abnormality - mutation of PRKAR 1 gene.

Following this, the mother realised that her 19-year old son also had similar problems and brought him to  KS Hegde hospital for check up. His genetic screening and other tests confirmed PPNAD in him too. He subsequently underwent bilateral laparoscopic adrenalectomy by Dr. Rajeev and his team with complete recovery.  Successful completion of the treatment was possible due to the timely co-operation and efficient administration by the Medical Superintendent, Dr. Hiremath and the Dean, Dr. P S.Prakash.