Hypopituitarism associated with neurofibromatosis type 1: report of one case

Neurofibromatosis type 1 (NF-1) is an autosomal dominant disorder with a wide range of clinical manifestations. Hydrocephalus unrelated to brain tumors is rare in neurofibromatosis type 1. A 16-year-and-6-month-old girl with primary amenorrhea was found to have hydrocephalus associated with neurofibromatosis type 1. After endocrine and brain imaging study, the cause of primary amenorrhea was proven to be hypopituitarism due to hydrocephalus. She entered puberty soon after relieving the hydrocephalus with a ventriculoperitoneal shunt. However, arrest of puberty was noted three months later. Therefore estrogen replacement therapy was given. Early detection of hydrocephalus was difficult in this patient. From the experience of our case, MRI study of brain is indicated in patient with neurofibromatosis type 1 and endocrine dysfunction.