Endocrine Abstracts

Background and Importance: Precocious puberty refers to sexual characteristics development before the normal age for its development. Neurofibromatosis Type 1 is an autosomal dominant condition with wide spectrum of clinical phenotype of which precocious puberty is common. This case report highlights the importance of recognizing this disease in patient presenting with precocious puberty and screening for optic pathway gliomas should be done and treat it to prevent the future chances of permanent blindness, neurological disability and gonadotropin deficiency.

Clinical Presentation: 9 years old male came with chief complains of decreased/blurring of vision from the age of 3 to 4 years, increased pubic hair growth and multiple regions of skin lesions noticeable for the last 1 year. Clinical examination of the patient revealed classic features of precocious puberty. Hormonal workup showed significantly raised testosterone levels and mildly raised FSH levels. MRI brain was done which showed abnormally thickened bilateral optic nerves and optic chiasma, suggestive of optic nerve glioma. Final diagnosis of Neurofibromatosis Type 1 manifesting as Central Precocious Puberty in association with bilateral optic pathway Glioma was made.

Conclusion: By this case report, physician’s attention is directed towards the importance of recognizing this disease with precocious puberty and screening for optic pathway glioma should be done, even when patient don’t have any visual symptoms and treat it early which will help in preventing the complications of optic pathway glioma in long term and ultimately shall benefit patients in part of their increased survival, satisfaction and decreasing morbidity.