Pituitary Stalk Interruption Syndrome from Infancy to Adulthood: Clinical,Hormonal, and Radiological Assessment According to the Initial Presentation |
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Authors: | Céline Bar Charline Zadro Gwenaelle Diene Isabelle Oliver Catherine Pienkowski Béatrice Jouret Audrey Cartault Zeina Ajaltouni Jean-Pierre Salles Annick Sevely Maithé Tauber Thomas Edouard |
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Affiliation: | 1. Endocrine, Bone Diseases, Genetics, Obesity, and Gynecology Unit, Children’s Hospital, University Hospital, Toulouse, France.; 2. Neuroradiology Unit, Purpan University Hospital, Toulouse, France.; 3. INSERM UMR 1043, Center of Pathophysiology of Toulouse Purpan (CPTP), University of Toulouse Paul Sabatier, Toulouse, France.; Erasmus MC, NETHERLANDS, |
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Abstract: | BackgroundPatients 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).ObjectiveTo compare baseline characteristics and long-term evolution in patients with PSIS according to the initial presentation.Study DesignSixty-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).ResultsNeonates 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.ConclusionsPSIS 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. |
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