Pituitary stalk disruption syndrome

Case contributed by Sergio Rodrigo Hernandez Choel
Diagnosis almost certain

Presentation

Patient with recurrent hypoglycemia since birth, laboratory studies are performed giving a diagnosis of central hypothyroidism and hypocortisolism.

Patient Data

Age: 5 years
Gender: Female

Brain

mri

At the sellar level, a hypoplastic adenohypophysis gland is observed within the sella turcica; the neurohypophysis is not visualized in its usual location, nor is the hypophyseal stalk; however, in the topography of the suprachiasmatic cistern, a hyperintense nodular image is observed in the T1 sequence that could correspond to the neurohypophysis.

Case Discussion

Pituitary stalk interruption syndrome is a congenital disorder readily diagnosed by MRI and characterized by an absent, interrupted or hypoplastic pituitary peduncle, aplastic or hypoplastic adenohypophysis, and an ectopic neurohypophysis. This anomaly is one of multiple causes of hypopituitarism and is associated with multiple hormonal deficiencies with various clinical manifestations such as prolonged neonatal jaundice, hypoglycemia, cryptorchidism and micropenis in newborns. In adults or adolescents it is mainly characterized by growth retardation or a lack of sexual development.

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