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Dergiler / Journal of Clinical Research in Pediatric Endocrinology / 2016 / Cilt: 8 - Sayı: 1

Growth Hormone Deficiency in a Child with Neurofibromatosis-Noonan Syndrome

DOĞUŞ VURALLI KARAOĞLAN
ELMAS NAZLI GÖNÇ
Dominique VİDAUD
ZEYNEP ALEV ÖZÖN
AYFER ALİKAŞİFOĞLU
Nurgün KANDEMİR
Sayfa
96–100
DOI
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⚡ TL;DR(1 Cümlede Hızlı Çıkarım)

Patients with NFNS who show poor growth should be evaluated for GHD.

📌 3 Maddede Bu Makale

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Amaç & Hipotez:Neurofibromatosis-Noonan syndrome (NFNS) is a distinct entity which shows the features of both NF1 (neurofibromatosis 1) and Noonan syndrome (NS).
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Temel Bulgular & Veri:While growth hormone deficiency (GHD) has been relatively frequently identified in NF1 and NS patients, there is limited experience in NFNS cases.
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Sonuç & Katkı:Patients with NFNS who show poor growth should be evaluated for GHD.
🔬Tür:Araştırma Makalesi
📍Kapsam:Genişletilmiş Akademik Örneklem
⚙️Değişkenler:Alan Parametreleri

Abstract

Neurofibromatosis-Noonan syndrome (NFNS) is a distinct entity which shows the features of both NF1 (neurofibromatosis 1) and Noonan syndrome (NS). While growth hormone deficiency (GHD) has been relatively frequently identified in NF1 and NS patients, there is limited experience in NFNS cases. The literature includes only one case report of a NFNS patient having GHD and that report primarily focuses on the dermatological lesions that accompany the syndrome and not on growth hormone (GH) treatment. Here, we present a 13-year-old girl who had clinical features of NFNS with a mutation in the NF1 gene. The case is the first NFNS patient reported in the literature who was diagnosed to have GHD and who received GH treatment until reaching final height. The findings in this patient show that short stature is a feature of NFNS and can be caused by GHD. Patients with NFNS who show poor growth should be evaluated for GHD.

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Bu Makaleye Atıf Yap

KARAOĞLAN, D. V., GÖNÇ, E. N., VİDAUD, D., ÖZÖN, Z. A., ALİKAŞİFOĞLU, A., KANDEMİR, N. (2016). Growth Hormone Deficiency in a Child with Neurofibromatosis-Noonan Syndrome. Journal of Clinical Research in Pediatric Endocrinology, Cilt: 8 - Sayı: 1, 96–100. https://ajindex.com/articles/216344

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Kaynakça (16)

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