Dataset Information

Growth Hormone Deficiency in a Child with Neurofibromatosis-Noonan Syndrome.

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.

SUBMITTER: Vurall? D

PROVIDER: S-EPMC4805056 | biostudies-literature | 2016 Mar

REPOSITORIES: biostudies-literature

ACCESS DATA

Publications

Growth Hormone Deficiency in a Child with Neurofibromatosis-Noonan Syndrome.

Vurallı Doğuş D Gönç Nazlı N Vidaud Dominique D Özön Alev A Alikaşifoğlu Ayfer A Kandemir Nurgün N

Journal of clinical research in pediatric endocrinology 20151218 1

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 ...[more]

PMID: 26758488

Similar Datasets

Project description:ObjectiveThe aim of this study was to perform psychometric testing of the Growth Hormone Deficiency-Child Impact Measure (GHD-CIM): a patient-reported outcome (PRO) for children with GHD aged 9 to < 13 years and an observer-reported outcome (ObsRO) for parents/guardians of children who are unable to answer for themselves.MethodsA non-interventional, multicenter, clinic-based study was conducted in 30 private-practice and large institutional sites in the US and the UK. Psychometric analyses were conducted following an a priori validation statistical analysis plan.ResultsA preliminary examination of the data determined a PRO version for children aged 9 to < 13 years was not psychometrically sound and therefore the decision was made to have only an ObsRO measure of the GHD-CIM, which would be suitable for children aged 4 to < 13 years. The GHD-CIM ObsRO validity analyses included 98 parents/guardians. Factor analyses identified three domains: Physical Functioning (PHYS), Social Well-Being (SWB), and Emotional Well-Being (EWB). Internal consistency reliability was acceptable for all domains and for the overall score (Cronbach's alpha > 0.70), as was test-retest reliability for the SWB, EWB and overall (above 0.70). At least one convergent validity hypotheses for each domain and overall was proven (r > 0.40). Known-groups validity hypotheses for the EWB and SWB domains were significant (p < 0.05). Associated effect sizes ranged from - 0.40 to - 0.58, indicating that the GHD-CIM is sensitive to change. Anchor-based patient and clinician ratings of severity of disease suggest a preliminary minimally important difference of 5 points for the overall score, and 5 for PHYS, 7 for EWB, and 5 for SWB.ConclusionsThe GHD-CIM ObsRO was found to be a reliable and valid measure to assess disease-specific functioning, which will provide a more complete patient-centric picture to the growth hormone therapy experience in children.Trial registrationClinicalTrials.gov NCT02580032, first posted 20 October 2015.

Dataset Information

Growth Hormone Deficiency in a Child with Neurofibromatosis-Noonan Syndrome.

Publications

Growth Hormone Deficiency in a Child with Neurofibromatosis-Noonan Syndrome.

Similar Datasets

OmicsDI is part of the ELIXIR infrastructure

Tweets