Searchable abstracts of presentations at key conferences in endocrinology
Endocrine Abstracts (2016) 41 EP317 | DOI: 10.1530/endoabs.41.EP317

ECE2016 Eposter Presentations Clinical case reports - Pituitary/Adrenal (81 abstracts)

Bilateral large adrenal lesions in a patient with undertreated congenital adrenal hyperplasia

Muhammet Cuneyt Bilginer , Didem Ozdemir , Cevdet Aydin , Reyhan Ersoy & Bekir Cakir


Department of Endocrinology and Metabolism, Yildirim Beyazit University Medical Faculty, Ankara, Turkey.


Introduction: Congenital adrenal hyperplasia (CAH) is a group of autosomal recessive diseases characterized by enzyme deficiencies in cortisol secretion. The most common form is 21-alpha hydroxylase deficiency. Here, we report a patient with undertreated CAH and bilateral large adrenal masses.

Case report: 34 years old male patient diagnosed with CAH and testicular anorchia at the age of 7 admitted to our clinic for general weakness. Hydrocortisone treatment was started at the diagnosis but he never used it regularly and was not taking glucocorticoid replacement for 10 years. In physical examination, blood pressure was 100/70 mmHg, there was diffuse hyperpigmentation, and no testicular tissue could be palpated. In laboratory examination, fasting blood glucose was 97 mg/dl, sodium 143 mmol/l, K 4.5 mmol/l and renal, liver and thyroid functions were normal. His serum cortisol, adrenocorticotrophin hormone (ACTH) and 17-OH progesteron levels were 4.8 mcg/dl, 366 pg/ml and 217 ng/ml, respectively. Serum aldosteron was low and and renin was high. In abdominal MRI, there were hypertrophied adrenal glands with solid nodular lesions of 47×44 mm in right and 22×24 mm in left glands. Pheochromocytoma was excluded by normal 24 hour urinary catecholamines. 17-OH progesteron decreased to 40.8 ng/ml after 2 months of 0.5 mg/day dexamethasone treatment.

Conclusion: Although, adrenal enlargement is an expected finding in untreated CAH due to excessive ACTH secretion, adrenal lesions are rarely observed. CAH should be included in the differential diagnosis of large bilateral adrenal lesions to avoid unnecessary adrenalectomies.

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