Introduction: 21-hydroxylase deficiency (21-OHD) is a common inherited disorder accounting for 9095% of congenital adrenal hyperplasia (CAH) cases. Some cases may be diagnosed in adulthood after the incidental discovery of adrenal masses on computerized tomography (CT).
Case report: A 59-year-old male was investigated for incidentally discovered bilateral adrenal masses in an abdomen CT scan, measuring 5 cm on the right and 8 cm on the left adrenal. At birth he had a phallus and partial fusion of the labioscrotal folds and was diagnosed with bilateral cryptorchidism and hypospadias. He was raised as a man. At the age of 15 the patient menstruated and karyotype testing revealed the XX cromosomal sex. He underwent multiple operations for the creation of a scrotum and the restoration of hypospadias. The uterus and ovaries were removed and prosthetic testes were placed in the scrotum. He was not receiving any cortisone supplementation. On physical examination he had a male appearance with sparse beard male-type baldness, height was 138 cm and weight 73 kg. He had gynecomastia and a 5 cm phallus with prosthetic testes. Testosterone was 7.8 ng/ml (nr for women 0.070.65), S-DHEA 420 μg/dl (22263), E2 144 pg/ml (5.7102), ACTH 80.5 pg/ml (7.363.3), PRA 3.6 ng/ml per min (0.51.9), aldosterone 450 pg/ml (66173), and on Synacthen test: 17OHP 0′ 92 ng/ml, 30′ 139, 60′ 226 and cortisole 0′ 199 nmol/l, 30′ 242, 60′ 285. Genetic testing of the 21-hydroxylase gene revealed a compound heterozygoticity for the mutations I172N and Q318X. Following left adrenalectomy histology revealed a diffusely hyperplastic adrenal cortical zone, measuring in total12×8×4 cm with regions of myelolipoma transformation.
Conclusions: Long standing, untreated classic virilizing form of CAH may lead to extensive hyperplasia of the adrenal cortex. It is prudent to measure 17OHPG in cases with massive adrenal enlargement.
28 - 31 May 2016
European Society of Endocrinology