title: Diagnostic pitfalls in the assessment of congenital hypopituitarism.
abstract: BACKGROUND
  The diagnosis of congenital hypopituitarism is difficult and often delayed because its symptoms are nonspecific.
  
  
  OBJECTIVE
  To describe the different clinical presentations of children with congenital hypopituitarism to reduce the time for diagnosis and to begin a precocious and appropriate treatment.
  
  
  METHODS
  We analyzed a cohort of five children with congenital hypopituitarism, describing their clinical, biochemical and radiological characteristics from the birth to diagnosis.
  
  
  RESULTS
  As first sign of the disease, all of five patients presented a neonatal hypoglycemia, associated in four cases with jaundice. In all these four cases, the clinicians hypothesized a metabolic disease delaying the diagnosis, which was performed in only two cases within the neonatal period. In the other three cases, the diagnosis was formulated at 2, 5 and 8 years of life because there was severe and precocious growth impairment.
  
  
  CONCLUSIONS
  It is important to suspect congenital hypopituitarism in the presence of persistent neonatal hypoglycemia associated with jaundice and of a precocious and severe reduction of the growth velocity in childhood. In all these cases, it is necessary to undertake a hypothalamic-pituitary magnetic resonance imaging scan as soon as possible, and to start appropriate treatment.
authors: Pediatric Division, Department of Pediatrics, Universitary Hospital of Verona, Piazzale Stefani 1, 37126, Verona, Italy, paolocavarzere@yahoo.it.
authors: Paolo
authors: P
authors: Cavarzere
authors: Paolo
authors: P
authors: Biban
authors: Rossella
authors: R
authors: Gaudino
authors: Silvia
authors: S
authors: Perlini
authors: Lorenzo
authors: L
authors: Sartore
authors: Lorenza
authors: L
authors: Chini
authors: Davide
authors: D
authors: Silvagni
authors: Franco
authors: F
authors: Antoniazzi
mesh_terms: D002648:Child; D002675:Child, Preschool; D005260:Female; D006801:Humans; D007018:Hypopituitarism / Q000175:diagnosis* / Q000235:genetics*; D007223:Infant; D007231:Infant, Newborn; D008297:Male