ESPE Abstracts

Introduction: Pituitary stalk interruption syndrome is a rare congenital abnormality of the pituitary gland manifesting with varying degree of anterior pituitary insufficiency. It is presented with isolated growth hormone deficiency or multiple anterior pituitary hormone deficiencies. It is characterized by the triad of thin or interrupted pituitary stalk, hypoplasia or aplasia of adenohypophysis and ectopic or absent neurohypophysis. It is manifested with hypoglycemia, prolonged jaundice, cryptorchidism and micropenis during neonatal period; with short stature in older children. Either genetic mutations in HESX1, LHX4, OTX2, SOX3 and PROKR2 genes or other factors that can cause neonatal hypoxia such as breech delivery, cesarean delivery or neonatal distress are proposed to be the etiological culprits of the disease. Here, we present a case with co-ocurring APSHAEN syndrome, sacrococcygeal teratoma, and horseshoe kidney.

Case: A 5-year-old girl was referred for short stature. She was a twin delivered by cesarean section at 30 weeks of gestation, weighing 2090 grams, and the fourth child of healthy consanguineous parents. She was operated for anal atresia and rectovestibular fistula on the postnatal 20th day and for sacrococcygeal teratoma when 13 months old. She had noteworthy facial features; large forehead, deep set eyes, broad nasal bridge, bulbous nasal tip, long philtrum and narrow upper lip. Her height, weight and BMI were 86 cm (-5,28 SD), 11 kg (-4,07 SD) and 14,87 kg/m² (-0,4 SD) respectively. Midparental height was 158,5 cm (-0,77 SD). Her bone age was found as 2,5 years. Laboratory investigations (CBC, urea, creatinine, liver enzymes, serum electrolytes, cholesterol and triglycerides) were resulted normal, except anemia and central hypothyroidism. Sodium L-thyroxine and iron supplementation were started. Karyotype was 46, XX with a normal micro-array analysis. IGF-1 was found <-2 SD. Peak serum GH responses to stimulation tests (with clonidine/L-Dopa) are <10µg/dL. ACTH, cortisol and prolactin levels were normal. Skeletal survey revealed J-shaped sella, Harris-lines in the metaphysis of long bones and absence of the sacrum due to the surgery. Abdominal ultrasound revealed a horseshoe kidney and grade II hyperechogenic liver. No abnormalities were identified in the etiological tests for steatohepatitis. MRI of the pituitary region uncovered ABSHAEN. Growth hormone supplementation was initiated. Growth velocity for 3 months length increment is 3,5 cm.

Conclusion: We presented a case with the coexistence of developmental midline malformations that was not formerly presented in the literature. This co-ocurrence may be due to genetic and environmental causes or coincidental.