A Pituitary Stalk Interruption Syndrome Presenting with Metabolic Dysfunction Associated Steatohepatitis: A Case Report

Abstract

Background: Pituitary Stalk Interruption Syndrome (PSIS) is a rare congenital disorder characterized by the absence or thinning of the pituitary stalk, hypoplasia of the anterior pituitary, and ectopic posterior pituitary. This results in panhypopituitarism and related clinical manifestations. Emerging evidence suggests an association between PSIS and metabolic dysfunction, potentially progressing to advanced liver disease. Case Report: We present the case of a 31-year-old female with a known diagnosis of panhypopituitarism due to PSIS (diagnosed in 2014), with a history of primary amenorrhea and multiple episodes of adrenal insufficiency. She presented with complaints of fever, vomiting, and yellowish discoloration of the eyes. Clinical examination revealed icterus, right hypochondriac tenderness, hepatomegaly, and Cushingoid features. Laboratory evaluation demonstrated dyslipidaemia, hyperglycaemia, hyperbilirubinemia, and elevated liver enzymes. Imaging revealed hepatomegaly with severe hepatic steatosis. After exclusion of other common aetiologies of hepatitis, a liver biopsy was performed, confirming severe steatosis with fibrosis. In the absence of other identifiable causes, panhypopituitarism is considered a likely contributing factor in the development of hepatic steatosis in this case. Hence, a final diagnosis of metabolic dysfunction-associated steatohepatitis (MASH) secondary to PSIS was made. Conclusion: The pathophysiological link between PSIS and MASH has been recently described. Proposed mechanisms include altered STAT signalling pathways (e.g., STAT1/3 activation, STAT5 inhibition) leading to impaired hepatic lipid metabolism and increased insulin resistance. Evidence suggests that MASLD may progress more rapidly in patients with PSIS compared to other aetiologies. Hormone replacement therapy (HRT) remains the cornerstone of management and may help slow disease progression. Early recognition, routine liver function monitoring, and timely intervention are essential to prevent long-term hepatic complications in patients with PSIS.