Young onset hypertension - underdiagnosed and undertreated - a rare case presentation

A 28-year-old male presented to our outdoor clinic with uncontrolled hypertension. He was diagnosed incidentally with hypertension at the age of 16 years. He was taking multiple anti-hypertensive medications but his home blood pressure (BP) readings were always on higher side. He had history of ambiguous genitalia at birth and underwent corrective surgery in early childhood. He had history of poor beard growth for that he received testosterone injections for almost a year. He had elevated BP (170/90 mm/Hg). On the Examination, he had poor secondary sexual characters with ambiguous genitalia (external masculinization score = 2/15), with bilateral ectopic testes in inguinal canal. Hormonal analysis revealed low testosterone with elevated follicle-stimulating hormone (FSH) and luteinizing hormone (LH) levels. Considering the clinical profile, possibility of disorder of sexual differentiation due to 17 alpha hydroxylase was kept. Steroid profiling was sent that confirmed the diagnosis. The patient was initiated on a treatment regimen including oral hydrocortisone, parenteral testosterone and Aldactone.