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Pituitary stalk interruption syndrome.

Antonis Voutetakis1

  • 1Department of Pediatrics, School of Medicine, Democritus University of Thrace, Alexandroupolis, Thrace, Greece.

Handbook of Clinical Neurology
|July 9, 2021
PubMed
Summary

Pituitary stalk interruption syndrome (PSIS) is a complex genetic disorder affecting pituitary development. Whole exome sequencing reveals multiple gene defects, suggesting a multigenic origin for this condition.

Keywords:
CPHDCombined pituitary hormone deficiencyGrowth hormone deficiencyMidline defectsPSISPituitary stalk interruption syndrome

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Area of Science:

  • Developmental biology
  • Genetics
  • Endocrinology

Background:

  • Pituitary stalk interruption syndrome (PSIS) is a rare congenital disorder.
  • Characterized by specific pituitary gland abnormalities visible on MRI.
  • Etiology was previously linked to perinatal events, but genetic factors are now recognized.

Purpose of the Study:

  • To investigate the genetic underpinnings of Pituitary Stalk Interruption Syndrome (PSIS).
  • To identify genes and pathways involved in PSIS pathogenesis.
  • To understand the genetic basis and inheritance patterns of PSIS.

Main Methods:

  • Whole exome sequencing (WES) applied to patient cohorts.
  • Analysis of genetic variants in genes related to pituitary development, holoprosencephaly, and cilia function.
  • Review of clinical data and family histories.

Main Results:

  • Identified numerous PSIS-associated molecular defects in genes regulating pituitary development.
  • Highlighted the role of Wnt, Notch, and sonic hedgehog signaling pathways.
  • Revealed coexisting pathogenic variants in many patients, indicating a multigenic origin and variable penetrance.

Conclusions:

  • PSIS is increasingly viewed as a mild form of an expanded holoprosencephaly spectrum.
  • Clinical manifestations include variable pituitary hormone deficiencies and extrapituitary malformations.
  • Prompt hormone therapy is crucial for management, but further research into etiopathogenesis is needed.