Endocrine Abstracts

This 31 year old patient was referred to the endocrinology department with a history of dizziness and fatigue. Past medical history identified that he had been diagnosed with congenital adrenal hyperplasia, presumed to be secondary to 21-hydroxylase deficiency, by 18 months of age whilst living abroad. He had been raised as a male but was found to have 46XX genotype with grade 5 virilisation. During childhood and early adolescence, he underwent multiple operations to remove Mullerian derivatives, uterus and ovaries and had bilateral testicular prostheses inserted. Glucocorticoid replacement was initiated but there was a long gap from adolescence to adulthood when the patient did not receive glucocorticoid replacement and did not experience symptoms of hypoadrenalism. There was also a family history of congenital adrenal hyperplasia. In clinic, he was hypotensive with a blood pressure of 100/70 mmHg and phenotypically there was evidence of grade 5 virilisation. Early morning cortisol was 80 nmol/l with no cortisol response on short synacthen test. 17-OHP was elevated at 542 nmol/l with ACTH 764.5 ng/l. Testosterone 4.9 nmol/l with adrenal androgens – DHEA 3.4 umol/l and Androstenedione >80 nmol/l. Renin was elevated at 4 nmol/l/hour. Glucocorticoid replacement was commenced with hydrocortisone before being converted to dexamethasone and then prednisolone. Mineralocorticoid replacement with fludrocortisone was commenced. Unfortunately the patient experienced adverse effects with multiple steroid preparations which included weight gain, rash and reduced libido likely due to glucocorticoid suppressing adrenal androgen production. This led to him stopping steroids on one occasion despite knowledge of the importance of taking steroids regularly and of the sick day rules which precipitated a hospital admission. In order to improve his acceptance of glucocorticoid therapy and his symptoms of sexual dysfunction, testosterone therapy is being considered. Ongoing management plan includes measurement of bone mineral density, referral to the Clinical Genetics Team and emphasis of the importance of regularly taking glucocorticoid and mineralocorticoid replacement to avoid adrenal crisis.