Pituitary stalk interruption syndrome (PSIS) presenting in a Jordanian male patient with short stature and delayed puberty: a case report

Abstract

BackgroundPituitary stalk interruption syndrome is a rare congenital pituitary anatomical defect manifested with wide and various clinical presentations. Short stature and delayed puberty are present in most cases and may be combined with extra pituitary malformations. Magnetic resonance imaging is considered the key factor for reaching the definite diagnosis as it reveals the different radiological presentations of this syndrome.Case presentationA 17-year-old male patient from Jordan was presented to the radiology department for pituitary MRI. The patient presents with multiple pituitary hormonal deficiency, short stature, and under-developed secondary sexual characteristics. The bone age of the patient was significantly less than the chronological age. MRI pituitary gland showed hypoplasia of the anterior pituitary, absence of the pituitary stalk and ectopic posterior pituitary gland located posterior to the optic chiasm. These findings were consistent with pituitary stalk interruption syndrome.ConclusionsConsidering uncommon incidence of pituitary stalk interruption syndrome, magnetic resonance imaging of the pituitary should be considered while examining a patient with pituitary deficiency for prompt diagnosis and treatment. Hormone replacement medication is the primary treatment for pituitary stalk interruption syndrome and should be started as soon as feasible. Thus, early diagnosis and monitoring of individuals are crucial.