title: Pituitary Stalk Interruption Syndrome from Infancy to Adulthood: Clinical, Hormonal, and Radiological Assessment According to the Initial Presentation.
abstract: BACKGROUND
  Patients with pituitary stalk interruption syndrome (PSIS) are initially referred for hypoglycemia during the neonatal period or growth retardation during childhood. PSIS is either isolated (nonsyndromic) or associated with extra-pituitary malformations (syndromic).
  
  
  OBJECTIVE
  To compare baseline characteristics and long-term evolution in patients with PSIS according to the initial presentation.
  
  
  METHODS
  Sixty-seven patients with PSIS were included. Data from subgroups were compared: neonates (n = 10) versus growth retardation patients (n = 47), and syndromic (n = 32) versus nonsyndromic patients (n = 35).
  
  
  RESULTS
  Neonates displayed a more severe hormonal and radiological phenotype than children referred for growth retardation, with a higher incidence of multiple hormonal deficiencies (100% versus 34%; P = 0.0005) and a nonvisible anterior pituitary lobe (33% versus 2%; P = 0.0017). Regular follow-up of growth might have allowed earlier diagnosis in the children with growth retardation, as decreased growth velocity and growth retardation were present respectively 3 and 2 years before referral. We documented a progressive worsening of endocrine impairment throughout childhood in these patients. Presence of extra-pituitary malformations (found in 48%) was not associated with more severe hormonal and radiological characteristics. Growth under GH treatment was similar in the patient groups and did not vary according to the pituitary MRI findings.
  
  
  CONCLUSIONS
  PSIS diagnosed in the neonatal period has a particularly severe hormonal and radiological phenotype. The progressive worsening of endocrine impairment throughout childhood justifies periodic follow-up to check for additional hormonal deficiencies.
authors.affiliation: Endocrine, Bone Diseases, Genetics, Obesity, and Gynecology Unit, Children's Hospital, University Hospital, Toulouse, France.
authors.forename: Céline
authors.initials: C
authors.lastname: Bar
authors.affiliation: Neuroradiology Unit, Purpan University Hospital, Toulouse, France.
authors.forename: Charline
authors.initials: C
authors.lastname: Zadro
authors.affiliation: Endocrine, Bone Diseases, Genetics, Obesity, and Gynecology Unit, Children's Hospital, University Hospital, Toulouse, France.
authors.forename: Gwenaelle
authors.initials: G
authors.lastname: Diene
authors.affiliation: Endocrine, Bone Diseases, Genetics, Obesity, and Gynecology Unit, Children's Hospital, University Hospital, Toulouse, France.
authors.forename: Isabelle
authors.initials: I
authors.lastname: Oliver
authors.affiliation: Endocrine, Bone Diseases, Genetics, Obesity, and Gynecology Unit, Children's Hospital, University Hospital, Toulouse, France.
authors.forename: Catherine
authors.initials: C
authors.lastname: Pienkowski
authors.affiliation: Endocrine, Bone Diseases, Genetics, Obesity, and Gynecology Unit, Children's Hospital, University Hospital, Toulouse, France.
authors.forename: Béatrice
authors.initials: B
authors.lastname: Jouret
authors.affiliation: Endocrine, Bone Diseases, Genetics, Obesity, and Gynecology Unit, Children's Hospital, University Hospital, Toulouse, France.
authors.forename: Audrey
authors.initials: A
authors.lastname: Cartault
authors.affiliation: Endocrine, Bone Diseases, Genetics, Obesity, and Gynecology Unit, Children's Hospital, University Hospital, Toulouse, France.
authors.forename: Zeina
authors.initials: Z
authors.lastname: Ajaltouni
authors.affiliation: Endocrine, Bone Diseases, Genetics, Obesity, and Gynecology Unit, Children's Hospital, University Hospital, Toulouse, France.|INSERM UMR 1043, Center of Pathophysiology of Toulouse Purpan (CPTP), University of Toulouse Paul Sabatier, Toulouse, France.
authors.forename: Jean-Pierre
authors.initials: JP
authors.lastname: Salles
authors.affiliation: Neuroradiology Unit, Purpan University Hospital, Toulouse, France.
authors.forename: Annick
authors.initials: A
authors.lastname: Sevely
authors.affiliation: Endocrine, Bone Diseases, Genetics, Obesity, and Gynecology Unit, Children's Hospital, University Hospital, Toulouse, France.|INSERM UMR 1043, Center of Pathophysiology of Toulouse Purpan (CPTP), University of Toulouse Paul Sabatier, Toulouse, France.
authors.forename: Maithé
authors.initials: M
authors.lastname: Tauber
authors.affiliation: Endocrine, Bone Diseases, Genetics, Obesity, and Gynecology Unit, Children's Hospital, University Hospital, Toulouse, France.|INSERM UMR 1043, Center of Pathophysiology of Toulouse Purpan (CPTP), University of Toulouse Paul Sabatier, Toulouse, France.
authors.forename: Thomas
authors.initials: T
authors.lastname: Edouard
mesh_terms: D000293:Adolescent; D000328:Adult; D002648:Child; D002675:Child, Preschool; D005260:Female; D006130:Growth Disorders / Q000097:blood / Q000188:drug therapy; D020249:Hormone Replacement Therapy; D006728:Hormones / Q000097:blood / Q000172:deficiency / Q000627:therapeutic use; D006801:Humans; D007223:Infant; D007231:Infant, Newborn; D008137:Longitudinal Studies; D008279:Magnetic Resonance Imaging; D008297:Male; D010900:Pituitary Diseases / Q000097:blood / Q000175:diagnosis* / Q000188:drug therapy; D010902:Pituitary Gland / Q000002:abnormalities* / Q000000981:diagnostic imaging; D010903:Pituitary Gland, Anterior / Q000002:abnormalities* / Q000000981:diagnostic imaging; D011859:Radiography; D012044:Regression Analysis; D012189:Retrospective Studies; D013577:Syndrome; D016896:Treatment Outcome
chemical_list: D006728:Hormones