Early identification of pituitary dysfunction in congenital nasal pyriform aperture stenosis: recommendations based on experience in a single centre

Chen, S. C., McDevitt, H., Clement, W. A., Wynne, D. M., Mason, A., Donaldson, M. D.C., Ahmed, S. F. and Shaikh, M. G. (2015) Early identification of pituitary dysfunction in congenital nasal pyriform aperture stenosis: recommendations based on experience in a single centre. Hormone Research in Paediatrics, 83(5), pp. 302-310. (doi: 10.1159/000369805) (PMID:25791686)

Abstract

Background: Congenital nasal pyriform aperture stenosis (CNPAS) is an increasingly recognised cause of upper airway obstruction associated with midline abnormalities. Studies have described pituitary dysfunction in 40% of patients. We aimed to develop guidelines for: (a) the early identification of pituitary insufficiency to minimise surgical risk and (b) to stratify patients for follow-up. Methods: Retrospective case note review of patients with CNPAS between 2000 and 2014 in a tertiary paediatric unit. Results: 20 patients (12 female:8 male) were analysed; 16 were diagnosed during the neonatal period while 4 were diagnosed later. There was no consistent approach in the evaluation of the pituitary axis at diagnosis. Pituitary dysfunction was identified in 3 (15%) patients, 2 of whom were found during evaluation of short stature in mid-late childhood. Hypoglycaemia and conjugated hyperbilirubinaemia, but not the degree of stenosis, were highly predictive of pituitary dysfunction (p < 0.05). Available height standard deviation score (SDS) data at 1 year of 70% of our patients identified both of the late-diagnosed growth hormone-deficient patients, with SDS of -2.6 and -3.6, respectively. Conclusion: All CNPAS patients should have MRI of the brain and baseline endocrine investigations at diagnosis. Growth monitoring for at least 1 year is recommended as low, or falling, height SDS at 1 year is a good predictor of pituitary dysfunction.

• Item Type: Articles
• Status: Published
• Refereed: Yes
• Glasgow Author(s) Enlighten ID: Mason, Dr Avril and Shaikh, Dr Mohammed Guftar and Ahmed, Professor Syed Faisal and Donaldson, Dr Malcolm and Chen, Dr Ching
• Authors: Chen, S. C., McDevitt, H., Clement, W. A., Wynne, D. M., Mason, A., Donaldson, M. D.C., Ahmed, S. F., and Shaikh, M. G.
• College/School: College of Medical Veterinary and Life Sciences > School of Medicine, Dentistry & Nursing
• Journal Name: Hormone Research in Paediatrics
• Publisher: Karger Publishers
• ISSN: 1663-2818
• ISSN (Online): 1663-2826
• Published Online: 14 March 2015