Endocrine Abstracts

Introduction: Pituitary stalk interruption syndrome (PSIS) is a rare congenital pituitary malformation characterized by the classical triad: pituitary stalk rupture, absent or ectopic neurohypophysis, and hypoplasia or aplasia of adenohypophysis. The clinical presentation depends on the age of the patient at the time of diagnosis. Patients may also have seizures, hypotension, and mental retardation at presentation. He aim is to describe a patient with an unrecognized pituitary stalk interruption syndrome, who as such was for many years only under the supervision of a neurologist due to epilepsy and mental retardation and without hormone replacement therapy.

Patient presentation: A 25-year-old man was admitted to endocrinology due to hypoglycemia, nausea and vomiting, and after a series of epileptic seizures. He was previously diagnosed with cerebral palsy, mental retardation and epilepsy. Clinical examination at admission verified low growth (height 133.5 cm, weight 35 kg), hypoglycemia and hypotension. Hormonal analyzes have shown hypothyroidism, hypocorticism, hypogonadism, and hyperprolactinemia. Pituitary NMR findings indicated hypoplastic / aplastic adenohypophysis, hypoplastic stalk, and ectopic neurohypophysis. Radiography of the hand estimated bone maturity of the age of 15 years. Testicular ultrasound showed an undescended left testis in the inguinal canal. In accordance with the findings, the patient was introduced hormone replacement therapy with hydrocortisone and levothyroxine, which resulted in satisfactory clinical recovery.

Conclusion: The case of a patient with a late diagnosis of pituitary stalk rupture syndrome and with all the consequences of untreated panhypopituitarism is presented. In any patient who presents with low growth, epileptic seizures and hypoglycemia in adulthood, it is crucial to suspect the endocrine etiology of the changes.