Non-Classic 11-Hydroxylase Deficiency Presenting As an Adrenal Incidentaloma with Biochemical Amelioration Associated with Weight Loss and Vitamin D Repletion

Presentation Number: SAT 367
Date of Presentation: April 1st, 2017

Taiga Inoue1, Alan Scott Sacerdote*2, Mayur Neog3, Ronakkumar Patel2, Gabriel Fenteany4, Krishna Patibandla5 and Gul Bahtiyar6
1Woodhull Medical & Mental Health Center, Brooklyn, NY, 2SUNY Downstate Medical Center, Brooklyn, NY, 3NYC Helath+Hospitals/Woodhull, Brooklyn, NY, 4NYC Health+Hospitals, New York, NY, 5NYC Health+Hospitals, Brooklyn, NY, 6NYU School of Medicine, New York, NY, New York, NY


The differential diagnosis of adrenal incidentalomas includes primary hyperaldosteronism, Cushing’s syndrome, and pheochromocytoma, and, when the first 3 have been excluded,-non-classic adrenal hyperplasia (NCAH). We have previously shown that insulin-sensitizing interventions ameliorate the expression of both classic and non-classic CAH.

The patient is a 56 year-old African-American man who was referred to Endocrine in 2002 for hypertension with a 3.0x2.8x2.1 cm, well circumscribed, ovoid, hypodense, soft tissue mass in the medial limb of the right adrenal first noted in 2001. Endocrine evaluation was negative for primary hyperaldosteronism, Cushing’s syndrome, and pheochromocytoma, however plasma renin activity (PRA) by liquid chromatography tandem mass spectrometry (LC/MS/MS) was low at 0.52 ng/ml/hr., at least suggesting the possibility of a deoxycorticosterone-secreting adenoma (DOComa). Unstimulated serum deoxycorticosterone by LC/MS/MS on 9/20/11 was 38 ng/dl (3.5-11.5). Both hypo- and hyperkalemia were occasionally noted, but not at DOC or aldosterone sampling times. Unstimulated serum 11-deoxycortisol by LC/MS/MS on 1/31/08 was 130 ng/dl (<76). Serum 17-OH-pregnenolone was normal and serum 17-OH-progesterone by LC/MS/MS was low at 43 ng/dl (61-334). Metformin 500 mg daily after supper was started on 5/6/08, following which serum 11-deoxycortisol fell to 84 ng/dl. After this the patient was lost to follow-up for several years and ran out of metformin. On 6/13/12 his serum 25-OH-Vitamin D by immunoassay (IA) was 6 ng/ml (30-100). Between 1/8/08 and 6/8/12 the patient had lost 2.3 kg, after which he underwent right below knee amputation due to peripheral arterial disease with gangrene. On 7/15/16 serum 11-deoxycortisol fell to 53 ng/dl (<42), serum deoxycorticosterone normalized to 6ng/dl (2-19), serum 25-OH-Vitamin D was 14.4 ng/ml (30.0-100.0). On 8/5/16 serum 11-deoxycortisol fell to 47 ng/dl, DOC was 5.2 ng/dl, and 25-OH-Vitamin D was 36.3 ng/ml. The right adrenal mass has not changed in size or appearance since 2001. This case illustrates the importance of considering NCAH in the differential diagnosis of adrenal incidentaloma and again illustrates the potential benefit of improvement of insulin sensitivity by both weight loss and correction of hypovitaminosis D in NCAH.


Nothing to Disclose: TI, ASS, MN, RP, GF, KP, GB