Case history: We report a 38 year-old Caucasian woman with classical salt wasting congenital adrenal hyperplasia (CAH) who increasingly omitted medication in adolescence and eventually spent over 10 years without any adrenal replacement therapy or adrenal crises and became lost to follow up. When seen, she complained of increasing abdominal girth, fatigue, hirsutism, had type 2 diabetes, had never had a romantic/sexual relationship and was amenorrhoeic. Examination revealed abdominal distension by a massive palpable mass.
Investigations: Initial blood tests showed random serum Cortisol 149 nmol/l (200600), Renin (plasma) 751.0 mU/l (230), plasma ACTH 333.0 ng/l (040), 17-OH-progesterone >726 nmol/l and serum total Testosterone 6.4 nmol/l. CT showed massive bilateral adrenal tumours which grew substantially during 3 years follow up during which ACTH and 17-OHP were appropriately suppressed. Displacement and distortion of abdominal viscera were noted.
Results and treatment: Massive bilateral adrenal enlargement, secondary to chronic ACTH stimulation due to non-adherence with adrenal replacement therapy was diagnosed. A long process of re-engagement with the patient took place until it was felt that the risk of further non-adherence was lower than the risks of leaving such massive adrenal glands in situ. The surgical strategy was to remove the larger left adrenal gland and if straightforward, to proceed to the contralateral side. Bilateral surgery was performed. The left adrenal weighed 11,405 g and measured 550 × 310 × 230 mm. The smaller right adrenal measured 170 × 145 × 180 mm. Histology confirmed florid hyperplasia with myelolipomatous metaplasia, consistent with untreated CAH.
Conclusions and points for discussion: Bilateral adrenalectomy is a therapeutic option in CAH particularly where the GC dose required for acceptable androgen suppression causes unwanted effects. Here, bilateral adrenalectomy had the potential to create new complete adrenal insufficiency in a patient whose risk of adrenal crisis might well be augmented by established treatment non-adherence. However, this risk had to be weighed against the additional risk of such massive bilateral adrenal enlargement (including haemorrhage, torsion, rupture, infarction, neoplasia and displacement of other viscera and possible diabetogenic effects of the intra-abdominal fat) particularly as it was clear that the masses continued to grow even after appropriate treatment and apparent adherence for a total of 3 years. Although it seems likely that the process of adrenal enlargement was initially ACTH-dependent, it is clear that progressive adrenal expansion eventually became independent of ACTH.
16 - 18 Apr 2018
Society for Endocrinology