Objective: Neurofi bromatosis type 1(NF1) is one of the most common autosomal dominant multisystem diseases. Many endocrine problems especially related to puberty and growth may accompany NF1. We evaluated growth, pubertal development and endocrine problems in patients with NF1.

Material and Methods: We obtained the anthropometric variables, and clinical and laboratory data of 38 patients (18 girls and 20 boys) with sporadic (55.3%) or familial NF-1 (44.7%). Six patients had affected mothers and 11 had affected fathers). The mean age at referral was 10.8±4.4 years (range 2.10 to 19 years) and 24 patients were pubertal (63.2%). The average age at diagnosis was 6.6 years and the mean follow-up period was 4.2 years.

Results: Short stature was recognized in 11 of the 38 children (28.9%). One of them had an endocrine disorder (hypothyroidism). Obesity was diagnosed in 5 cases (13.2 %) and another 5 cases were overweight (13.2%). Puberty was abnormal in 7/38 of the children (18.4%). Two cases of delayed puberty, 1 central precocious puberty (1 male with optic glioma), 1 premature telarche, 2 premature pubarche and 1 pubertal gynecomastia cases were found. Lisch nodules were seen in 9 cases (23.7%). Scoliosis was diagnosed in 5 cases (13.2%). Hypothyroidism was detected in 3/38 (7.9%) children. Two of them had autoimmune thyroiditis and one had congenital hypothyroidism (dyshormonogenesis). The frequencies of vitamin D defi ciency and insuffi ciency in the winter were 44.7% and 10.5% respectively. There vitamin D levels were not adequate in our NF1 patients.

Conclusion: Vitamin D defi ciency, obesity, short stature and pubertal disorders were the most common endocrine problems in our study group. We believe that patients with NF1 should see an endocrinologist routinely

Keywords: Stature, Childhood, Neurofi bromatosis type 1, Puberty