ESPE Abstracts

Pituitary stalk interruption syndrome (PSIS) is a rare congenital pituitary anatomical defect with endocrine abnormalities. The triad of this syndrome comprises thin or interrupted pituitary stalk, absent or ectopic posterior lobe, and hypoplastic or aplastic anterior pituitary lobe. We diagnosed a 16-year-old female patient with combined pituitary hormone deficiency (CPHD) due to PSIS. The patient complained of chronic fatigue and was Tanner stage 1 with no signs of puberty. However, her height, which was 5 percentile at the age of 7, was 163.5cm (75 percentile) at the age of 16. It was rather taller than her mid-parental height (MPH), 160cm. Pelvic ultrasonography and MRI showed hypoplasia of the uterus and ovaries, and chromosomal analysis showed a normal 46,XX karyotype. The combined pituitary stimulation test revealed CPHD and hyper-responsiveness of prolactin to TRH, suggesting hypothalamic-pituitary disconnection. MRI of the pituitary gland revealed the absence of the pituitary stalk, a small anterior pituitary, and an ectopic posterior pituitary located in the hypothalamic area. Replacement therapies with corticosteroid, levothyroxine, estrogen priming and growth hormone were initiated. Herein, we report a case in which a PSIS-induced CPHD patient reached her final height above MPH despite delayed puberty and severe growth hormone deficiency. Although of rare incidence, pituitary stalk interruption syndrome (PSIS) should be kept in mind while investigating a child with delayed puberty. Furthermore, in case of suspicion for early diagnosis and treatment, it is necessary to actively utilize imaging test and recognize characteristic MRI findings.