Growth, Puberty, and Endocrine Functions in Patients With Sporadic or Familial Neurofibromatosis Type 1: A Longitudinal Study

Carmi, Doron; Shohat, Mordechai; Metzker, Aryeh; Dickerman, Z

doi:10.1542/peds.103.6.1257

Cited by 69 publications

(56 citation statements)

References 9 publications

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“…Although many reports have described short stature and macrocephaly as a consistent finding in NF1, these growth abnormalities usually become apparent in later childhood and adolescence (17,18). In contrast, our patient exhibited failure to thrive and reduced growth rate throughout infancy and early childhood.…”

Section: Discussioncontrasting

confidence: 52%

Silver-Russell Syndrome-like Features in a Patient Carrying a Novel NF1 Mutation

et al. 2005

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Section: Discussioncontrasting

confidence: 52%

Silver-Russell Syndrome-like Features in a Patient Carrying a Novel NF1 Mutation

et al. 2005

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“…6 -9,34 It was shown that height growth was nearly normal during childhood but decreased with increasing age. 6,7,9 Patients with the common NF1 microdeletions, however, display distinct growth anomalies. In contrast to classical NF1 patients, childhood overgrowth occurs in these patients.…”

Section: Discussionmentioning

confidence: 99%

“…This also contrasted with findings in classical NF1 patients whose prepubertal bone age is delayed by 1 -2 years. 6 The cause of childhood overgrowth in patients with NF1 microdeletions remains to be elucidated. Precocious puberty is a possible explanation.…”

Section: Discussionmentioning

confidence: 99%

Childhood overgrowth in patients with common NF1 microdeletions

et al. 2005

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While growth retardation and short stature are well-known features of patients with classical neurofibromatosis type 1 (NF1), we found advanced height growth and accelerated carpal bone age in patients with an NF1 microdeletion. Our analysis is based on growth data of 21 patients with common 1.4/1.2 Mb microdeletions, including three patients with a Weaver-like appearance. Overgrowth was most evident in preschool children (2-6 years, n ¼ 10, P ¼ 0.02). We conclude that childhood overgrowth is part of the phenotypic spectrum in patients with the common 1.4/1.2 Mb NF1 microdeletions and assume that the chromosomal region comprised by the microdeletions contains a gene whose haploinsufficiency causes overgrowth.

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“…Bunların %58'inde NF-1'in ailevi olduğu, ailevi formlarda sporadik formlara göre büyüme-nin daha fazla etkilendiğini belirtmektedirler (1). Boy kısalığında santral sinir sistemi patolojilerinin ve beslenme yetersizliğinin de etkili olabileceği söylenmektedir (1,5). Bazı hastalarda psikososyal problemlerin de göz önüne alınması gerekebilir.…”

Section: Toplam Hasta Sayısı N (%)unclassified

“…İntrakraniyel yerleşimli suprasellar lezyonlara bağlı santral hipotiroidi ve büyüme hormonu eksikliği de gözlenebil-mektedir. Bazı erken ergenlik ve büyüme hormonu eksikliği gös-teren olgularda optik kiazma gliomaları da rapor edilmiştir (1)(2)(3)(4)(5).…”

Section: Introductionunclassified

Endocrine Problems in Children with Neurofibromatosis Type 1

Tayfun¹,

Demir²,

Emir³

et al. 2014

Turkish J Pediatr Dis

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ÖZETAmaç: 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 Sözcükler: Boy, Çocukluk çağı, Nörofi bromatozis tip1, Püberte ABSTRACT 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)....

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Growth, Puberty, and Endocrine Functions in Patients With Sporadic or Familial Neurofibromatosis Type 1: A Longitudinal Study

Cited by 69 publications

References 9 publications

Silver-Russell Syndrome-like Features in a Patient Carrying a Novel NF1 Mutation

Silver-Russell Syndrome-like Features in a Patient Carrying a Novel NF1 Mutation

Childhood overgrowth in patients with common NF1 microdeletions

Endocrine Problems in Children with Neurofibromatosis Type 1

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