A thirty year old woman with complete 21-hydroxylase deficiency presented with a five centimetre adrenal mass necessitating operative removal to exclude malignant change. Her medical management had always been unsatisfactory, and she had been tried on both hydrocortisone and dexamethasone. When taking 1 milligram dexamethasone daily she had partially suppressed androgen levels, (evidenced by a fall in 17-hydroxy-progesterone levels to 29 nmol/l), at the expense of marked Cushingoid features. When switched to 20 milligrams of hydrocortisone daily, her Cushingoid features were reduced, but androgen production was uncontrolled (17-hydroxy-progesterone at 280 nmol/l). After full discussion, she underwent bilateral adrenalectomy. A ten centimetre mass of 'indeterminate' histology was removed. Post-operatively she was titrated onto a standard replacement regime of hydrocortisone (10mg twice daily) and fludrocortisone (50 mcg), and remains well at two months post surgery with 17-hydroxyprogesterone levels of 3.9 nmol/l.
In patients with complete 21-hydroxylase deficiency, adequate suppression of excess virilising androgens may require doses of corticosteroids significantly higher than those required for adrenal replacement, inducing Cushingoid complications. After adrenalectomy, this difficult balance between virilisation and over-treatment is simplified to replacement steroid therapy. Due to complete lack of endogenous steroid production in this condition compliance is no less essential to life without adrenalectomy.
Surgery carries risks, but laparoscopic adrenalectomy at the time of genitoplasty adds minimal extra operative morbidity. Adrenalectomy performed early in life would reduce childhood virilisation of female patients and might benefit psychosexual outcomes. Early epiphyseal fusion due to high androgen levels would be avoided, increasing final height.
We suggest that in female patients with complete enzyme deficiencies, the residual adrenal gland activity has no beneficial, and many harmful, effects. Bilateral adrenalectomy is proposed as an alternative to current management.
08 - 11 Apr 2002
British Endocrine Societies