Presentation
Delayed puberty.
Patient Data
Normal anterior pituitary signal and enhancement, however, it appears at the lower limits of normal.
The posterior pituitary signal is not visualized in the normal location, with a 4 mm T1 hyperintense signal in the hypothalamic region suggesting ectopic posterior pituitary.
The distal part of the pituitary stalk is not visualized indicating agenesis.
Findings indicate pituitary stalk interruption syndrome.
Case Discussion
This is a 10-year-old child with delayed growth and puberty. Upon evaluation of hormone levels, growth hormone deficiency was reported. MRI of the pituitary region was requested to exclude pituitary pathology. MRI findings were compatible with pituitary stalk interruption syndrome (pituitary stalk transection syndrome), which is a congenital disorder characterized by a triad of:
absent or exceedingly thin pituitary stalk/infundibulum
absent or hypoplastic anterior pituitary
Initially, it 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 is confirmed by MRI as in this case.
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