title: Long-term auxological and endocrinological evaluation of patients with 9p trisomy: a focus on the growth hormone-insulin-like growth factor-I axis.
abstract: BACKGROUND
  Trisomy 9p is an uncommon anomaly characterised by mental retardation, head and facial abnormalities, congenital heart defects, kidney abnormalities, and skeletal malformations. Affected children may also show growth and puberty retardation with delayed bone age. Auxological and endocrinological data are lacking for this syndrome.
  
  
  METHODS
  We describe three girls and one boy with 9p trisomy showing substantial growth failure, and we evaluate the main causes of their short stature.
  
  
  RESULTS
  The target height was normal in all families, ranging from 0.1 and -1.2 standard deviation scores (SDS). The patients had a low birth-weight (from -1.2 to -2.4 SDS), birth length (from -1.1 to -3.2 SDS), and head circumference (from -0.5 to -1.6 SDS). All patients presented with substantial growth (height) retardation at the time of 9p trisomy diagnosis (from -3.0 to -3.8 SDS).The growth hormone stimulation test revealed a classic growth hormone (GH) deficiency (GHD) in patients 1, 3, and 4. In contrast, patient 2 was determined to have a GH neurosecretory dysfunction (GHNSD). The plasma concentrations of IGF-I and IGFBP-3 were low in all patients for their ages and sexes (from -2.0 to -3.4 SDS, and from -1.9 to -2.8 SDS, respectively).The auxological follow-up showed that those patients who underwent rhGH treatment exhibited a very good response to the GH therapy, whereas patients 3 and 4, whose families chose not to use rhGH treatment, did not experience any significant catch-up growth.
  
  
  CONCLUSIONS
  GH deficiency appears to be a possible feature of patients with 9p trisomy syndrome. These patients, particularly those with growth delays, should be evaluated for GH secretion.
authors.affiliation: Department of Health's Sciences, Paediatric Endocrinology Unit, University of Florence, Anna Meyer Children's University Hospital, Florence, Italy. stefano.stagi@yahoo.it.
authors.forename: Stefano
authors.initials: S
authors.lastname: Stagi
authors.forename: Elisabetta
authors.initials: E
authors.lastname: Lapi
authors.forename: Salvatore
authors.initials: S
authors.lastname: Seminara
authors.forename: Silvia
authors.initials: S
authors.lastname: Guarducci
authors.forename: Marilena
authors.initials: M
authors.lastname: Pantaleo
authors.forename: Sabrina
authors.initials: S
authors.lastname: Giglio
authors.forename: Francesco
authors.initials: F
authors.lastname: Chiarelli
authors.forename: Maurizio
authors.initials: M
authors.lastname: de Martino