A case of silent 21‐hydroxylase deficiency with persistent adrenal insufficiency after removal of an adrenal incidentaloma

Abstract

A case of an adrenal incidentaloma in a 57-year-old man with silent 21-hydroxylase deficiency is reported. Abdominal computed tomography revealed a right adrenal tumour of 6cm in diameter. There was no evidence of adrenal hormone excess. However, after surgical removal of the adrenal tumour, the patient developed acute adrenal insufficiency. Adrenocortical function has remained low ever since surgery. Pathological examination of the tumour revealed a cortical adenoma. On the basis of increased plasma renin activity and serum 17 alpha-hydroxyprogesterone concentration and decreased 21-hydroxylase activity of the adenoma tissue, the patient was diagnosed as having systemic 21-hydroxylase deficiency. There are two possible mechanisms for the persistent adrenal insufficiency; first the residual left adrenal gland may have been originally hypo-functioning for some reason and, second, the left gland may have lost the ability to regenerate following prolonged suppression by the adenoma. In cases of adrenal incidentalomas with 21-hydroxylase deficiency, the indications for surgical removal should be carefully considered.

Nonclassic congenital adrenal hyperplasia due to 21-hydroxylase deficiency: clinical presentation, diagnosis, treatment, and outcome

“…In contrast, others have only found 0.5 % of the patients with adrenal incidentalomas to be affected by CAH [183], and some have reported that their finding of 9.6 % CYP21A2 carriers with nonfunctioning adrenal incidentaloma was not different from that in healthy controls [184]. How frequently an adrenal incidentaloma presents symptoms of NCAH is unclear, but there are several reports of NCAH diagnoses as the result of the work-up of these tumors [24,29,[180][181][182]185]. In some of these cases, the diagnosis of CAH, both classic and NCAH, was made on the urinary steroid profile sampled in the work-up of suspected adrenocortical cancer [24,29,185].…”

A 68-Year-Old Phenotypically Male Patient with 21-Hydroxylase Deficiency and Concomitant Adrenocortical Neoplasm Producing Testosterone and Cortisol

“…The production of cortisol by the tumor is supported by the finding that the ectopic but discernible expression of CYP21 in the tumor. To the best of our knowledge, there is one report that suggests the production of cortisol by the adrenal tumor arising in the patient with 21OHD (Nagasaka et al 1996). They reported that adrenal insufficiency developed after the surgical removal of the adrenal tumor and the pathological diagnosis was adrenocortical adenoma.…”

Nonclassic Congenital Adrenal Hyperplasia

“…Following discovery of an adrenal incidentaloma, an 88 year old women was diagnosed with NCAH; her genetic analysis showed V281L and I172N [70]. A 57 year old man ascertained by finding an adrenal incidentaloma was diagnosed with NCAH; he had elevated serum 17-OHP concentrations and urinary 17-ketosteroid excretion [71]. Adrenal myelolipomas have been reported among untreated adults with NCAH [72].…”