Clinical Features and Analysis in Pituitary Stalk Interruption Syndrome

Area of Science:

• Endocrinology
• Pediatric Endocrinology
• Metabolic Disorders

Background:

• Pituitary stalk interruption syndrome (PSIS) is a rare congenital disorder characterized by the absence of the pituitary stalk, pituitary hypoplasia, and ectopic posterior pituitary.
• The etiology and clinical manifestations of PSIS are not fully understood, necessitating further investigation into its characteristics and associated conditions.

Purpose of the Study:

• To analyze the clinical features, endocrine deficiencies, and common complications of Pituitary stalk interruption syndrome (PSIS) in a cohort of Chinese patients.
• To enhance the understanding of PSIS for improved clinical diagnosis and management.

Main Methods:

• A retrospective analysis of 24 inpatients diagnosed with PSIS over a 10-year period.
• Data collected included clinical presentation, laboratory results, imaging findings, and treatment outcomes.

Main Results:

• The study identified 22 males (91.7%) and 2 females (8.3%) among the 24 PSIS patients.
• All patients exhibited growth hormone deficiency (100%) and hypogonadism (100%). Other common deficiencies included secondary adrenal insufficiency (91.2%) and hypothyroidism (87.5%).
• Frequent complications included dyslipidemia (79.2%), nonalcoholic fatty liver disease (62.5%), and hyperuricemia (37.5%).

Conclusions:

• PSIS predominantly affects males and is associated with multiple anterior pituitary hormone deficiencies.
• Associated metabolic complications like dyslipidemia and nonalcoholic fatty liver disease increase cardiovascular and cerebrovascular risks.
• Timely evaluation of pituitary function and complications is essential for effective management and to prevent delayed treatment.