Endocrine Abstracts (2017) 49 EP130 | DOI: 10.1530/endoabs.49.EP130

Congenital adrenal hyperplasia: hazards of non-compliance with treatment!

Mazhar Dalvi1 & Faisal Dalvi2

1Al Noor Hospital, Abu Dhabi, United Arab Emirates; 2Aster Medical Centre, Dubai, United Arab Emirates.

A 30-year-old male presented to emergency with history of palpitations for 6 months. At birth he was diagnosed with salt-losing congenital adrenal hyperplasia (female pseudohermaphrodite) and commenced on steroid therapy. He also underwent corrective surgery. He needed both fludrocortisone and hydrocortisone. At age 17, he visited urology because of bilateral testicular enlargement. On examination he had normal secondary sexual features, but his testicles felt hard and four times the normal size. His serum testosterone level was 50.4 nmol/l (10–38 nmol/l), 17-OH-progesterone 142 nmol/l (<13 nmol/l) and ACTH (corticotrophin) of 139 ng/l (0–50 ng/l), clearly indicating non-compliance. He had bilateral orchidectomy. Upon pathologic review, these lesions were most consistent with testicular tumors of the adrenogenital syndrome. Patient continued to default at clinic appointments. At age 26, he presented to the surgeon with increasing abdominal girth and abdominal pain. CT of the abdomen demonstrated very low-density adrenal masses (18×11 cm on the left side and 8×4.5 cm on the right side). Blood work up showed high 17-OH- progesterone indicating inadequate suppression with glucorticoids partly due to non-compliance. As these adenomas was new onset and there was a possibility of adrenocortical cancer the patient underwent laparoscopic bilateral adrenelectomy. The final histology to be consistent with adrenal myelolipomas. Hydrocortisone dose was doubled and fludrocortisone 100 mcg/day was started. Now at age 30, he presented with history of palpitations and dizziness. He had sinus tachycardia In ECG (HR120/min). Blood work up: Na 130 mmol/l (135–145 mmol/l) K 5.33 mmol/l (3.5–5.1 mmol/l) Plasma renin 100 μIU/ml (<40 μIU/ml). This indicated under replacement. He was clearly tachycardic because of volume depletion. His compliance was enforced. Within 6 weeks his heart rate normalised with normalisation of renin levels. Persons with CAH are at increased risk of developing adrenal myelolipomas, testicular adrenal rest tumours particularly if their CAH is poorly controlled.

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