Nörofi bromatozis Tip 1 Tanılı Çocuklarda Endokrin Sorunlar

Öz

Amaç: Nörofi bromatozis Tip1 (NF 1) klinik bulguları çocukluk çağında ortaya çıkmaya başlayan ve pek çok sistemi etkileyen otozomal dominant geçişli bir hastalıktır. Birçok endokrin problem özellikle de büyüme ve püberte sorunları NF 1’e eşlik edebilmektedir. Bu çalışma ile NF 1 tanılı hastalarımızın büyüme, pübertal sorunlar ve endokrin problemlerinin değerlendirilmesi amaçlanmıştır.Gereç ve Yöntemler: Kliniğimizde izlenmekte olan 38 hastanın antropometrik, klinik ve laboratuvar verileri geriye dönük olarak incelendi.Bulgular: Çalışmaya 38 olgu alındı, (18 kız, 20 erkek); %55.3’ü sporadik, %44.7’si ailevi tip NF 1 olgusuydu. Olguların 6’sında maternal geçiş, 11’de paternal geçiş öyküsü vardı. Ortalama başvuru yaşı 10.8 ± 4.4 (2.1 ile 19 yaş) ve 24 hasta (%63.2 ) püberte dönemindeydi. Boy kısalığı 38 hastanın 11’de (%28.9), obezite 5 olguda (%13.2), fazla tartılı olma 5 olguda (%28.9) saptandı. Püberte bozukluğu 7/38 (%18.4) de olup; 2 gecikmiş püberte, 1 santral püberte prekoks,1 prematür telarş,2 prematür pubarş ve 1 pübertal jinekomasti olgusu saptandı. Skolyoz 5 olguda (%13.2) görüldü. Hipotroidi 3/38 (%7.9) da görüldü; 2 olguda otoimmün troidit, 1 olguda konjenital hipotroidi (dishormonogenezis) vardı. D vitamini eksikliği ve yetersizliği sırasıyla %44.7 ve %10.5 saptandı.Sonuç: NF 1 hasta grubunda vitamin D eksikliği, obezite, boy kısalığı, erken ve geç püberte en yaygın görülen endokrin sorunları oluşturmaktadır. Bu nedenle NF 1 tanılı hastaların endokrinolojik açıdan periyodik olarak izlenmesi erken tanı ve uygun tedavi almalarını sağlayacaktır.

Anahtar Kelimeler

• Boy, Çocukluk çağı, Nörofi bromatozis tip1, Püberte

Endocrine Problems in Children with Neurofi bromatosis Type 1

Öz

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

Anahtar Kelimeler

• Stature, Childhood, Neurofi bromatosis type 1, Puberty

Kaynakça

1. Carmi D, Shohat M, Metzker A, Dickerman Z. Growth, puberty, and endocrine functions in patients with sporadic or familial neurofi bromatosis type 1: A longitudinal study. Pediatrics1999;103:1257-62.
2. Virdis R, Street ME, Bandello MA, Tripodi C, Donadio A, Villani AR, et al. Growth and pubertal disorders in neurofi bromatosis type 1. J Pediatr Endocrinol Metab 2003;16:289-92.
3. Virdis R, Sigorini M, Laiolo A, Lorenzetti E, Street ME, Villani AR, et al. Neurofi bromatosis type 1 and precocious puberty. J Pediatr Endocrinol Metab 2000 ;13:841- 4.
4. Habiby R, Silverman B, Listernick R, Charrow J. Precocious puberty in children with neurofi bromatosis type 1.J Pediatr 1995;126:364-7.