Endocrine Abstracts

Introduction: Congenital adrenal hyperplasia (CAH) is an inherited disorder, most commonly caused by enzymatic deficiency of 21-hydroxylase (CYP21A2). The non-classic or late-onset form is one of the most common autosomal recessive diseases in women, but the diagnosis is only rarely made in men unless they happen to present with testicular or adrenal masses or infertility.

Case report: A 65-year-old man presented with recurrent episodes of postural dizziness, mild orthostatic hypotension, weight loss and minimal tanning of face and arms. Initial evaluation suggested partial glucocorticoid deficiency with some compensatory elevation in ACTH. CT abdomen revealed bilaterally enlarged adrenals. He was treated with hydrocortisone replacement for five months, experiencing little clinical benefit. Following withdrawal of therapy, he was monitored with annual synacthen tests and imaging of his adrenal glands, all of which remained stable. Four years later, the short synacthen test result once again appeared suboptimal, and he therefore underwent further investigation, following which hydrocortisone was restarted.

Investigations Genotype: Heterozygous positive for a common deletion /conversion of CYP21 detected as chimeric mutation by direct ARMS testing and positive for the g.89C>T (p.Pro30Leu) point mutation. Confirms the diagnosis of CAH due to 21-hyroxylase deficiency.

Discussion: In patients with the non-classic form of CAH, enzymatic activity is reduced but typically sufficient to maintain normal glucocorticoid and mineralocorticoid production, at the expense of excessive androgen production. Treatment is not generally necessary for men unless there are testicular or adrenal masses or issues relating to subfertility. We believe this to be one of the latest (if not the latest) presentations in terms of chronological age of CAH presentation and diagnosis in a male.