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High prevalence of pituitary hormone deficiency in both unilateral and bilateral optic nerve hypoplasia

Journal article
Authors S. Dahl
M. K. Wiberg
Kristina Teär Fahnehjelm
L. Savendahl
R. Wickstrom
Published in Acta Paediatrica
Volume 108
Issue 9
Pages 1677-1685
ISSN 0803-5253
Publication year 2019
Published at Institute of Neuroscience and Physiology, Department of Clinical Neuroscience
Pages 1677-1685
Language en
Keywords Hypopituitarism, Neurological impairment, Optic nerve hypoplasia, Pituitary hormone deficiency, young-children, hypopituitarism, abnormalities, dysplasia, malformations, spectrum, motor, Pediatrics
Subject categories Pediatrics


Aim This study examined the prevalence of neurological impairment and pituitary hormone deficiency (PHD) in patients with unilateral and bilateral optic nerve hypoplasia (ONH). Methods A population-based cross-sectional cohort study of 65 patients (51% female) with ONH was conducted in Stockholm. Of these were 35 bilateral and 30 unilateral. The patients were below 20 years of age, living in Stockholm in December 2009 and found through database searching. The median age at the analysis of the results in January 2018 was 16.1 years (range 8.1-27.5 years). Neurological assessments and blood sampling were conducted, neuroradiology was reviewed and growth curves were analysed. Diagnoses of PHDs were based on clinical and biochemical evidence of hormone deficiency. Results Neurological impairments were identified in 47% of the patients and impairments in gross and fine motor function were more prevalent in bilateral ONH (p < 0.001). In addition, 9% had cerebral palsy and 14% had epilepsy. The prevalence of PHD was 29 and 19% had multiple PHD. Conclusion Children with ONH had a high risk of neurological impairment, especially in bilateral disease. Both unilateral and bilateral ONH signified an increased prevalence of PHD and all these children should be endocrinologically followed up until completed puberty.

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