Endocrine Abstracts

Introduction: Pituitary stalk interruption syndrome (PSIS) is a rare disease. It is defined by congenital anomalies of the pituitary leading to isolated or combined anterior pituitary deficiency. Its pathophysiology is unknown. Radiologically, it is characterized by an MRI showing the association of a thin or absent pituitary stalk, ectopic and/or absent posterior pituitary, and hypoplastic anterior pituitary. Symptoms of PSIS during the neonatal and early childhood period are often overlooked, leading to delayed diagnosis.

Objective: To describe the clinical, hormonal, and radiological manifestations of PSIS.

Patients and Methods: A retrospective descriptive study, including 6 patients hospitalized in the Department of Endocrinology and Metabolic Diseases at Ibn Rochd University Hospital in Casablanca for statural and weight delay.

Results: SIX cases of PSIS were collected, consisting of 5 boys and 1 girl. The average age at the first consultation was 14.5 years, ranging from 13 to 16 years. The reason for consultation was statural and weight delay in all patients. Pubertal delay was observed in 3 patients. None of them were born of consanguineous marriage. No history of neonatal incidents, obstetric, or cranial trauma was reported. Physical examination found a micropenis in 2 boys, and bone age was delayed by 2 to 4 years. The hypophyseogram showed isolated growth hormone deficiency (3 cases), combined deficiency (3 cases), and no manifestation of diabetes insipidus. Pituitary MRI revealed a hypoplastic anterior pituitary (4 cases), interrupted pituitary stalk (5 cases), and ectopic posterior pituitary (2 cases). Appropriate hormonal replacement therapy is the only effective means, but the timing of treatment is crucial.

Conclusion: PSIS exhibits significant clinical heterogeneity. The clinical presentation can range from predominantly somatotropic anterior pituitary deficiency to combined deficiencies. Pituitary MRI is crucial for diagnosis. Somatotropic deficiency can be isolated or combined from the outset. Management involves regular monitoring due to the evolving nature of the disease.