SUN-389 Consequences of Late Diagnosis of 11β-Hydroxylase Deficiency

Background: Steroid 11β-hydroxylase (CYP11B1) deficiency (11βOHD) is the second most common form of congenital adrenal hyperplasia (CAH). CAH is more likely to be missed in boys, particularly in patients with 11βOHD. Here, we report two boys with 11βOHD who presented late and the consequences of late diagnosis in them. Case presentation: Case 1: A-4-year-old boy presented with acne, appearance of axillary and pubic hair since the age of 3 years. Examination revealed tall stature (height z score: 4.6; predicted adult height 5000 ng/dl) and deoxycortisol (>1000 ng/dl). 17OHP was slightly elevated (334.73 ng/dl). Ultrasound scrotum revealed the presence of testicular adrenal rests (TARTs) in both testes. He had grade 1 hypertensive retinal changes and concentric left ventricular hypertrophy. Case 2: A-12-year-old presented with hypertensive encephalopathy. On examination he had normal stature for age (height: 138 cm; ≈predicted adult height =short), P4, G4 (stretched phallic length: 9 cm) and nodular testes measuring 4 cc on right and 6 cc on left. His bone age was 18 years and serum potassium was 2.67 mEq/L. Serum total testosterone was 229.77 ng/dl but LH was suppressed (0.03 mIU/ml). Serum 8:00 am cortisol level was low (0.39 µg/dl) with markedly elevated corticosterone levels (>5000 ng/dl) and deoxycortisol (>2000 ng/dl). 17OHP was slightly elevated (239.3 ng/dl). Ultrasound scrotum revealed bilateral TARTs. He had grade 1 hypertensive retinal changes and mild concentric left ventricular hypertrophy. Conclusion: Late diagnosis is common in boys with classic 11βOHD. It leads to disastrous complications such as hypertensive encephalopathy and/or hypertensive end organ damage, significantly compromises adult height potential and may have adverse impact on future fertility. Hence, early diagnosis of 11βOHD is essential.