Pituitary stalk interruption syndrome: A rare cause of amenorrhea in a patient with normal stature and secondary sexual characteristics

Abstract

Pituitary stalk interruption syndrome (PSIS) is a rare disorder characterized by the imaging triad of thinned or absent pituitary stalk, ectopic posterior pituitary lobe, and hypoplastic or absent anterior lobe. Patients typically present with 1 or more anterior pituitary lobe hormone deficits, most commonly growth hormone or gonadotropin, but patients may achieve normal stature and secondary sexual characteristics. Here, we present a case of a young female patient presenting with amenorrhea, normal stature, and sexual development, and an imaging triad of PSIS. To our knowledge, this is the first case of PSIS to present with hyperprolactinemia and an otherwise normal pituitary hormone profile.

Keywords

• Pituitary
• Pituitary stalk interruption syndrome
• Amenorrhea
• Prolactin
• Genetic
• Migration anomaly