Pituitary stalk interruption syndrome

Discussion:

This is a 10-year-old child known to have growth retardation, and delayed puberty. Upon evaluation of hormone levels growth hormone deficiency was reported. MRI of the pituitary region was ordered by his referring physician to rule out pituitary pathology. MRI findings were compatible with PSIS (pituitary stalk interruption syndrome A.K.A pituitary stalk transection syndrome) which is a congenital disorder characterized by a triad of:

Initially can present as isolated growth hormone deficiency, and may progress to multiple pituitary hormones deficiencies with the eventual development of panhypopituitarism with preservation of posterior pituitary function.

The diagnosis of pituitary stalk interruption syndrome (PSIS) is confirmed by MRI as in this case.

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