Endocrine Abstracts

Introduction: Li-Fraumeni syndrome is a rare disorder that greatly increases the risk of developing several types of cancer, particularly in children and young adults. It is a hereditary disease with high penetrance autosomal dominant transmission that is due, in 70% of the cases, to germline mutations in the gene TP53. The most common cancers associated with this disorder are brain tumors, sarcomas, breast cancer and adrenocortical tumors.

Methods: We describe the case of a young female brought by her parents to our clinic after observing premature pubarche.

Results: We report the case of a 2-year-old female with pubarche since 18 months old. Her parents had not observed any other sign of androgenisation. At inspection we observed grade 3 pubarche with clitoral hypertrophy and no premature telarche. Blood test showed pre-puberal gonadotropins and 17-β-Estradiol; markedly elevated androgens: DHEA-S 3640 μg/dl (Normal Range 33–280), 17-OH-Progesterone >20 ng/ml, Testosterone 1.9 ng/ml (N<0.8 ng/ml for adult women) and cortisol 23 μg/dl (Normal range: 5–20). Suspecting an adrenal tumour we performed an MRI showing a mass of 4.5 cm in left adrenal. Adrenalectomy was performed less than one month later showing a lesion with capsule conservation, very low mitotic index and a minimum focus of vascular invasion. This lesion was considered as benign as it did not meet the criteria of a malignant lesion. A complete family history was made: on her maternal branch she had a cousin of 2 years old recently diagnosed of adrenal carcinoma. No other history of tumours on this side of the family. Two of her father aunts died of cancer under the age of 30 years old (breast cancer and brain tumour). Genetic study showed a mutation in c375G>A of TP53 gene in our patient confirming the diagnosis of Li Fraumeni Syndrome. Both parents are being studied and also his little cousin. After surgery all androgen levels normalized and no new lesions had been discovered in periodic abdomen ultrasounds.

Conclusions: Although Li Fraumeni syndrome is a rare disease we should consider it as a possible diagnosis in young patients with adrenal tumours. We should remember the association of this disorder and adrenal carcinoma and take it in consideration during follow up in patients with diagnosis of Li Fraumeni Syndrome.