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. 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.

Congenital nasal pyriform aperture stenosis in association with solitary median maxillary central incisor: unique radiologic features

“…These phenotypic characteristics of SMMCI are thought to arise due to an interruption in development during gestational days 35-38 [4], [8], [9]. Interaction between the nasal placode and the nasal processes that form the central maxilla are disrupted leading to cranial facial, dentition, and nasal airway malformations.…”

“…CNPAS may be an isolated anomaly. However, when SMMCI is specifically evaluated in patients with CNPAS, it has been found to be present in up to 65% of cases [9], [10]. Conversely, in patients noted to have SMMCI, multiple studies show that CNPAS is the most common coexisting abnormality present in 55%-67% of patients [4], [5], [8], [11].…”

“…pointed to a deficiency in the literature in regard to recommendations for further screening of patients with CNPAS. They recommend baseline pituitary evaluation with brain MRI and baseline endocrine investigations along with growth monitoring for at least one year, as such abnormalities may have a delayed presentation [9]. Poelmans et al.…”

“…[11] investigated the HPA of 40 patients with CNPAS using pituitary stimulation tests and MRI of the brain and demonstrated pituitary hormone deficiencies in 25%. The most sensitive and early predictor of pituitary dysfunction is the presence of clinical symptoms of hypoglycemia, hypotension, conjugated hyperbilirubinemia, or micropenis in the neonatal period [9].…”

“…Endrocrinology consultation should be taken in to consideration for screening recommendations for hypopituitarism: growth hormone deficiency (IGF-1), dopamine insufficiency (prolactin), adrenocorticotrophic hormone deficiency (blood glucose and cortisol), central hypothyroidism (free thyroxine and thyroid-stimulating hormone), and diabetes insipidus (electrolytes). Further investigations of pituitary function, including stimulation testing, are recommended if clinical symptoms such as hypoglycemia and jaundice are present, or if baseline endocrine tests are not normal [9].…”