Endocrine Abstracts

The index case, a 26-year-old man, presented with a 15-month history of gynaecomastia. Investigations revealed a large left-sided adrenal mass that secreted oestrone and oestradiol, with suppression of FSH, LH and testosterone production. It was removed in 1991 with correction of the hormonal abnormalities and follow-up has shown no recurrence to date.

In April 2001 the eighteen-month old daughter of the index case developed greasy skin, acne, pubic hair and cliteromegaly over a four-month period. Investigation revealed a lobulated mass in the right adrenal and was associated with secretion of excess testosterone and androstenedione. The tumour was removed in May 2001. Androgen levels returned to normal. In both cases the histology confirmed an adrenocortical tumour.

The pedigree of the index case revealed 3 siblings and 1 paternal uncle who developed tumours under the age of 30 years, including breast cancer, astrocytoma and bone sarcoma. This family history fulfills the criteria for the familial cancer syndrome of Li-Fraumeni Syndrome (LFS). Results of gene analysis for a possible p53 defect are awaited.

There are less than 300 families reported to have LFS. Adrenal tumours are one of the rarer tumours recognised in the syndrome, although greater than 50% of adrenal tumours occurring in children under 10 years are associated with LFS. In our family it is intriguing that the adrenal tumour produced oestrogen in the father and testosterone in the daughter.