PITUITARY STALK INTERRUPTION SYNDROME: REPORT OF TWO CASES AND LITERATURE REVIEW.

Area of Science:

• Endocrinology
• Pediatric Endocrinology
• Neuroendocrinology

Background:

• Pituitary stalk interruption syndrome (PSIS) is a rare congenital pituitary malformation.
• It is characterized by ectopic posterior pituitary, absent/thin pituitary stalk, and anterior pituitary hypoplasia.
• PSIS presents with variable endocrine deficiencies and sometimes extrapituitary malformations.

Purpose of the Study:

• To describe two cases of PSIS presenting without central diabetes insipidus, anosmia, or significant extrapituitary malformations.
• To highlight the clinical and endocrine heterogeneity of PSIS.
• To emphasize the importance of early and accurate diagnosis through integrated neuroimaging and endocrine data.

Main Methods:

• Case report of two patients diagnosed with PSIS.
• Clinical evaluation including growth parameters, bone age assessment, and hormonal assays.
• Neuroimaging (MRI) to assess pituitary and stalk morphology.

Main Results:

• Case 1: A 4-year-old with short stature, diagnosed with GH deficiency, later developing central hypothyroidism and hypoprolactinemia.
• Case 2: A 26-year-old with history of birth asphyxia, cryptorchidism, poor growth, and absent puberty, presenting with GH, TSH, and ACTH deficiency.
• Both cases showed PSIS on MRI without central diabetes insipidus or significant extrapituitary anomalies.

Conclusions:

• PSIS exhibits significant clinical and endocrine heterogeneity, underscoring the need for increased medical awareness.
• Integrated analysis of neuroimaging and endocrine data is crucial for improving understanding and diagnosis.
• Further research may pave the way for molecular diagnosis, genetic counseling, and optimized patient management.