Aim of the study: A retrospective analysis of endocrine disorders in patients with neurofibromatosis type I consulted in the Children's University Hospital of Krakow in the period 2007-2010.
Material and methods: The analysis included 60 patients (33 girls, and 27 boys) aged 1.2-32 years, mean 11.6 years. The patients were followed up by many health care professionals: neurologists (EEG), neurosurgeons (CT, MRI), ophthalmologists, psychologists, ENT specialists, anthropologists (the assessment of body height and weight), geneticists, endocrinologists and gynecologists (the assessment of puberty according to Tanner scale, diagnostics of short stature, precocious puberty), and cardiologists (echo-cardiography).
Results: In the analyzed group of 60 patients, 46 were consulted by geneticists, 20 by endocrinologists, 19 by neurologists and cardiologists. The imaging of the central nervous system (CNS) was performed in 37 patients. Twenty-two patients presented with familial NF-I, 13 with sporadic NF-I, and in 25 patients, the family history was unavailable. Growth disorders were present in 27.7% of patients (13/47) that were referred to the anthropometric assessment. Short stature (height < or = (-) 2 SD) was recognized in 9/47 of children (19.1%). Tall stature (> (+) 2 SD) was recognized in 4/47 of patients (8.5%). All of the patients with tall stature presented with central precocious puberty (PD). Precocious puberty was also recognized in two children with normal stature. In all cases of PD, optic chiasm gliomas were recognized. Generally, organic CSN disorders were detected in 24 patients (63.2%). MRI revealed optic chiasm gliomas in 8 patients, 4 presented with gliomas of one or two optic nerves, 10 presented with hyperintensive areas on T2-weighted images, without enhancement after contrast injection, that may suggest the diagnosis of hamartoma of the CNS, and 2 with hydrocephaly.
Conclusions: 1. The most common disorders of the somatic development revealed in NF-I patients are growth disorders: short stature and tall stature caused by central precocious puberty. 2. In view of the incidence of endocrine disorders in patients with NF-I, the authors suggest an endocrine consultation in each case of NF-I.