April - June 2017, Volume 13, Issue 2

Meng X, Yu Y

Nonclassical 21-Hydroxylase Deficiency Presented as Addison's Disease and Bilateral Adrenal Incidentalomas

Acta Endo (Buc) 2017, 13 (2): 232-236
doi: 10.4183/aeb.2017.232

Background. 21-hydroxylase deficiency (21 OHD) is the most common form of congenital adrenal hyperplasia (CAH) and it has been widely described in the literature. Adrenocortical incidentalomas are unfrequently the presenting manifestations of CAH, especially in nonclassical form of 21 OHD (NC 21 OHD). Myelolipoma has previously been reported more frequently than other adrenal adenomas associated with CAH. Case. We report a 40-year old male case of NC 21 OHD with hypoadrenocorticism after unilateral adrenalectomy of the right side because of a large solid incidentaloma (5×4×4cm3) at the age of 31. This patient began to suffer from obvious symptoms of adrenal insufficiency after 9 years from the surgery. He was reviewed and a very low-density adrenal mass (4.1×3.9cm) was found on computed tomography of the abdomen. After he was admitted to our hospital, this patient was confirmed with NC 21 OHD and presented low level cortisol, striking elevated ACTH, aldosterone insufficiency, increased 17-hydroxyprogesterone, progesterone, decreasing androgens and azoospermatism. Conclusion. Patients with 21 OHD could be on risk not only for adrenal hyperplasia, but also to develop adrenal adenomas, particularly if the disease was poorly controlled.

Keywords: Nonclassical 21-hydroxylase deficiency, congenital adrenal hyperplasia (CAH), Addison’s disease, adrenal incidentaloma, myelolipoma, hypoadrenocorticism

Correspondence: Yerong Yu MD, West China Hospital, Sichuan University, Sichuan, 610041, China, E-mail: dr_yerongyu@163.com