title: Early identification of pituitary dysfunction in congenital nasal pyriform aperture stenosis: recommendations based on experience in a single centre.
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.
  
  
  CONCLUSIONS
  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.
authors: Department of Paediatric Endocrinology, Royal Hospital for Sick Children, Glasgow, UK.
authors: Suet Ching
authors: SC
authors: Chen
authors: Helen
authors: H
authors: McDevitt
authors: W Andrew
authors: WA
authors: Clement
authors: David M
authors: DM
authors: Wynne
authors: Avril
authors: A
authors: Mason
authors: Malcolm D C
authors: MD
authors: Donaldson
authors: S Faisal
authors: SF
authors: Ahmed
authors: M Guftar
authors: MG
authors: Shaikh
mesh_terms: D002675:Child, Preschool; D003251:Constriction, Pathologic / Q000150:complications / Q000151:congenital; D042241:Early Diagnosis; D005260:Female; D006801:Humans; D007223:Infant; D007231:Infant, Newborn; D008297:Male; D009296:Nasal Cavity / Q000002:abnormalities*; D010900:Pituitary Diseases / Q000175:diagnosis* / Q000209:etiology; D012189:Retrospective Studies