Endocrine Abstracts

Background: The prevalence of precocious puberty (PP) and its relationship to optic pathway tumours in patients suffering from neurofibromatosis type 1 (NF1) is significantly greater than in normal population.

Objectives: We present a rare case of precocious puberty in neurofibromatosis type 1 which is not associated with optic pathway tumour but with a tuber cinereum hamartoma.

Case report: We present the case of a 5-year and 5-month old male subject examined in pediatric endocrinology for growth spurt, testicular enlargement, pubic hair appearance in association with diffuse disseminated ‘café au lait spots’. Family history of confirmed neurofibromatosis type 1 reveals the associated pathology of our case. The patient has the Tanner stage P2G4; triptorelin test reveals the diagnosis of central precocious puberty (LH has increased from 2.85 to 21.89 mIU/ml, FSH increased from 1.98 to 3.52 mIU/ml and testosterone from 3.36 to 8.16 ng/ml). Cerebral MRI revealed a tuber cinereum hamartoma in the floor of the third ventricle in intimate contact with the optic chiasm. Triptorelin treatment has been successfully initiated, with limitation of growth velocity and puberty signs at 3-month interval.

Conclusions: Precocious puberty is a frequent endocrinologic feature in patients with genetically confirmed NF1, and is not related only to optic nerve gliomas. Children with NF1 need early hormonal screening, in order to unravel precocious puberty even at a preclinical level, which is critical for rapid diagnosis and introduction of a proficient treatment