title: High proportion of pituitary abnormalities and other congenital defects in children with congenital nasal pyriform aperture stenosis.
abstract: We aimed to determine the occurrence of pituitary dysfunction and additional malformations in patients with congenital nasal pyriform aperture stenosis (CNPAS) and to predict which patients are at risk of pituitary dysfunction. Among the 40 studied patients, hypothalamo-pituitary (HP) axis abnormalities were found in 16 patients (40%), with endocrine dysfunction (n = 9) and/or abnormal HP MRI findings (n = 15). A normal HP axis on MRI was highly predictive of normal endocrine function. Of the 40 patients, 31 had additional abnormalities in the cranio-facial area (n = 26), the brain (n = 12), the vertebrae (n = 5), the limbs (n = 4), the heart (n = 7) and the kidney (n = 3). Six patients had syndromic associations: VACTERL (n = 4), CHARGE (n = 1) and RHYNS (n = 1) syndromes. Craniofacial and brain malformations were more common in patients with HP axis abnormalities than in patients with normal HP axis. Familial history of midline defects and/or consanguinity were found in 30% of patients. In conclusion, HP axis abnormalities are frequent in patients with CNPAS and justify MRI of the brain early in life and clinical evaluation to screen for patients with pituitary insufficiency. CNPAS may be a genetically heterogeneous condition with a large phenotypic variability that shares common etiological mechanisms with the various forms of the holoprosencephaly phenotype.
authors.affiliation: Pediatric Endocrinology and Diabetes Unit, Centre de Référence Maladies Endocriniennes Rares de la Croissance, Hôpital Robert Debré, Assistance Publique-Hôpitaux de Paris, Paris VII University, 75019 Paris, France.
authors.forename: Sophie
authors.initials: S
authors.lastname: Guilmin-Crépon
authors.forename: Catherine
authors.initials: C
authors.lastname: Garel
authors.forename: Clarisse
authors.initials: C
authors.lastname: Baumann
authors.forename: Dominique
authors.initials: D
authors.lastname: Brémond-Gignac
authors.forename: Isabelle
authors.initials: I
authors.lastname: Bailleul-Forestier
authors.forename: Suzel
authors.initials: S
authors.lastname: Magnier
authors.forename: Mireille
authors.initials: M
authors.lastname: Castanet
authors.forename: Paul
authors.initials: P
authors.lastname: Czernichow
authors.forename: Thierry
authors.initials: T
authors.lastname: VAN DEN Abbeele
authors.forename: Juliane
authors.initials: J
authors.lastname: Léger
mesh_terms: D000015:Abnormalities, Multiple / Q000000981:diagnostic imaging / Q000453:epidemiology*; D002648:Child; D002675:Child, Preschool; D005260:Female; D006801:Humans; D007030:Hypothalamo-Hypophyseal System / Q000002:abnormalities*; D007223:Infant; D007231:Infant, Newborn; D008297:Male; D015508:Nasal Obstruction / Q000150:complications / Q000000981:diagnostic imaging*; D010900:Pituitary Diseases / Q000175:diagnosis / Q000453:epidemiology*; D010913:Pituitary-Adrenal System / Q000002:abnormalities*; D012306:Risk; D014057:Tomography, X-Ray Computed