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.
Highlights
Pituitary stalk interruption syndrome (PSIS) is characterized by the association of an absent or thin pituitary stalk, an absent or hypoplastic anterior pituitary lobe and/or an ectopic posterior pituitary lobe [1]
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)
We documented a progressive worsening of endocrine impairment throughout childhood in these patients
Summary
Pituitary stalk interruption syndrome (PSIS) is characterized by the association of an absent or thin pituitary stalk, an absent or hypoplastic anterior pituitary lobe and/or an ectopic posterior pituitary lobe [1]. PSIS is a frequent cause of congenital hypopituitarism and, the exact prevalence is unknown, abnormal pituitary development has been reported in about half of the patients with congenital hypopituitarism [7]. It is a marker of severe and permanent hormonal impairment [8,9,10,11]. The hypothesis of abnormal pituitary development during the embryonic period has more recently been proposed, and mutations of the genes involved in early development (the HESX1, LHX4, OTX2, SOX3, and PROKR2 genes) have been found in patients with congenital hypopituitarism and PSIS. PSIS is either isolated (nonsyndromic) or associated with extra-pituitary malformations (syndromic)
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