Endocrine Abstracts

Classical congenital adrenal hyperplasia (CAH) usually presents at birth with ambiguous genitalia or adrenal failure. Non-classical forms can present later with precocious puberty or may only present, in early adult life, with hyperandrogenism and amenorrhoea.
An 86 year old lady presented with a toxic confusional state, male pattern balding and hirsuitism. Little history was available. The provisional diagnosis was an androgen secreting tumour, however, a history taken from her sister revealed that at age 7 she was taller than other members of her class at school and stopped growing at age 11, she had shaved her face daily since age 11 and had lifelong amenorrhoea. Examination showed she was normotensive, did not have cushingoid features and revealed ambiguous genitalia, the extent of this was such that we were unable to catheterise her.
Testosterone levels were elevated (13.9nanomoles per litre), DHEAS was elevated at 8.5micromoles per litre as was the 17-hydroxyprogesterone (428nanomoles per litre). The gonadotrophins were postmenopausal. Her serum biochemistry was normal and the random cortisol was 530nanomoles per litre. There was a suboptimal response to synacthen (t=0 537nanomoles per litre, t=30 431nanomoles per litre, t=60 603nanomoles per litre). CT and MRI showed bilateral adrenal enlargement.
The patient was discharged on Dexamethasone with a provisional diagnosis CAH. She re-presented 4 months later with pneumonia. Investigations showed suppression of Testosterone 3.6nanomoles per litre and DHEAS 1.4micromoles per litre. Despite treatment she died. Post-mortem revealed bronchopneumonia. The adrenals were grossly enlarged bilaterally consistent with CAH with an area of infarction in the right adrenal (Left 7.5 x 5 x 2.5centimetres weighed 25grams, Right 9 x 6.5 x 3centimetres weighed 80grams).
In conclusion this lady had undiagnosed congenital adrenal hyperplasia and hyperandrogenism for 86 years. The diagnosis of congenital adrenal hyperplasia although unusual has still to be considered in old age.