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Table 1 Clinical presentation and diagnostic procedures in presented case

From: Optic glioma and precocious puberty in a girl with neurofibromatosis type 1 carrying an R681X mutation of NF1: case report and review of the literature

Age at diagnosis

2.5 years

Height at diagnosis

+2.5 SDS

Bone age

+1.1 SDS

Puberty

B2, P1

Peak LH value after GnRH stimulation

16.4 IU/dl

GH value after L-Dopa stimulation/glucose tolerance test

12.3 ng/ml / 0.6 ng/ml

IGF-1

289 ng/ml

MRI

Optic glioma spreading to the chiasm

Visual field

Peripheral narrowing of the visual field

Ultrasound of the ovaries

Normal