Pituitary stalk interruption syndrome

Last revised by Mostafa Elfeky on 10 Oct 2023

Pituitary stalk interruption syndrome, also known as pituitary stalk transection syndrome, is a syndrome characterized by an absent or hypoplastic anterior pituitary gland, thin or absent infundibulum, and ectopic posterior pituitary location.

Pituitary stalk interruption syndrome is very rare with an estimated incidence of 0.5 in 1 million births 4

Patients with pituitary stalk interruption usually present in the first decade of life with deficiency of growth hormones resulting in growth retardation 1. What can initially present as isolated growth hormone deficiency may progress to multiple pituitary hormones deficiencies with the eventual development of panhypopituitarism with preservation of posterior pituitary function 2,4.

The combination of hyperprolactinemia and hypothyroidism is known as Pickardt syndrome 4.  

In addition to endocrinological manifestations, there appears to be an increased incidence of breech presentation and difficult delivery 4. A number of additional features may be encountered later in childhood including learning difficulties and seizures 4

Various hypotheses have been proposed to explain the syndrome such as defective migration of the pituitary gland during intrauterine life or ischemia with subsequent reorganization of the infundibular axons and development of an ectopic posterior pituitary 1.

MRI is required for the diagnosis and demonstrates 4

Treatment consists of hormonal replacement 3.

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