Bilateral massive adrenal enlargement in a poorly treated adult patient with salt losing congenital adrenal hyperplasia
DK Nagi1, R Ajjan1, J Andrew1, P Walker2, A Ismail2 & R Jenkins1
A 42 year old gentleman presented for a second opinion regarding management of Congenital Adrenal Hyperplasia (CAH) of the salt losing variety. The patient had been under long term follow up elsewhere but had discontinued his medication of his own accord 14 months prior to seeking consultation. Examination revealed a heavily pigmented male patient with protuberant belly. He had easily palpable masses in both flanks. An abdominal CT showed bilateral massive adrenal enlargement occupying most of the abdomen with compression of other organs. His 24 hour urinary sodium excretion was 447 and 361 mmol/24 hr. His basal endocrinology showed 17-OH progesterone of 312 pmol/L, ACTH 1116 pmol/L, testosterone 52 nmol/L and suppressed gonadotrophins. A day profile was taken after 2 weeks treatment with dexamethasone (500/250 mcg) and fludrocortisone (100 mcg). He achieved excellent suppression of his 17-OH progesterone (14 pmol/L) on dexamethasone treatment. His testosterone levels fell below 2.2 suggesting non-testicular source of androgen. The patient has been offered long term treatment with suppressive therapy to see if the size of his adrenal glands can be reduced. The alternative option of bilateral adrenalectomy has been discussed at length with the patient. He has opted for medical treatment as a first choice. Although adrenal enlargement due to marked adrenal hyperplasia is well described in CAH, this is the most unusual case with massive adrenal enlargement with CT findings suggestive of adrenal myeloliposis. We believe that bilateral adrenalectomy probably offers the best possible option for this extremely unusual and severe case of CAH.