Presentation
Delayed puberty.
Patient Data
Normal anterior lobe signal and enhancement, however, it appears at the lower limits of normal measuring around 2.5 mm.
The posterior lobe signal is not visualized with around 4 mm hyperintense signal in the hypothalamic region suggesting ectopic posterior lobe.
The distal part of the pituitary stalk is not visualized indicating agenesis.
Findings are indicating pituitary stalk interruption syndrome.
Case 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:
- absent or exceedingly thin pituitary stalk/infundibulum
- an ectopic or absent posterior pituitary
- absent or hypoplastic anterior pituitary
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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