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Pituitary stalk interruption syndrome — Clinical Guidelines

Overview

Pituitary stalk interruption syndrome (PSIS) involves a small or absent anterior pituitary lobe, an interrupted or absent pituitary stalk, and an ectopic posterior pituitary lobe, often associated with hormonal deficiencies 1 2 3.

Diagnosis

Key Diagnostic Criteria: Thin or absent pituitary stalk on MRI, ectopic posterior pituitary, and anterior pituitary hypoplasia or aplasia 1 2.

Recommended Tests: MRI of the brain to visualize the pituitary gland and stalk 1 2.

Genetic Testing: Exome sequencing to identify mutations in genes associated with midline brain development, such as GLI2, ROBO1, CDON 1 2 3.

Hormonal Assays: Evaluate for deficiencies in GH, TSH, ACTH, and other pituitary hormones 1 2 3.

Management

First-Line Treatments: Hormone replacement therapy tailored to identified deficiencies (e.g., GH, levothyroxine for hypothyroidism, glucocorticoids for ACTH deficiency) 1 2 3.

Adjunctive Treatments: Regular monitoring and adjustment of hormone replacement doses based on growth, development, and metabolic parameters 1 2 3.

Special Populations

Pediatrics: Early identification and initiation of hormone replacement therapy to support growth and development 1 2 3.

Comorbidities: Consider additional management for associated conditions like hypoglycemia, micropenis, or ocular anomalies 1 2 3.

Key Recommendations

Utilize MRI for definitive diagnosis of PSIS, focusing on pituitary stalk and gland morphology 1 2. (Evidence: Strong)

Implement exome sequencing in patients with unexplained PSIS to identify potential genetic causes, particularly mutations in GLI2, ROBO1, and CDON 1 2 3. (Evidence: Moderate)

Initiate individualized hormone replacement therapy based on specific pituitary hormone deficiencies identified through comprehensive hormonal assays 1 2 3. (Evidence: Strong)

References

1 Zwaveling-Soonawala N, Alders M, Jongejan A, Kovacic L, Duijkers FA, Maas SM et al.. Clues for Polygenic Inheritance of Pituitary Stalk Interruption Syndrome From Exome Sequencing in 20 Patients. The Journal of clinical endocrinology and metabolism 2018. link 2 Bashamboo A, Bignon-Topalovic J, Moussi N, McElreavey K, Brauner R. Mutations in the Human ROBO1 Gene in Pituitary Stalk Interruption Syndrome. The Journal of clinical endocrinology and metabolism 2017. link 3 Bashamboo A, Bignon-Topalovic J, Rouba H, McElreavey K, Brauner R. A Nonsense Mutation in the Hedgehog Receptor CDON Associated With Pituitary Stalk Interruption Syndrome. The Journal of clinical endocrinology and metabolism 2016. link

Pituitary stalk interruption syndrome