Endocrine Abstracts

Background: The non-traumatic pituitary stalk interruption syndrome described after the advent of MRI is a congenital pituitary abnormality, often responsible for pituitary insufficiency revealed during the neonatal period. We note 9 cases of late diagnostic during the exploration of growth retardation.

Patients and methods: Descriptive cross-sectional study on files of 9 patients, 5 boys and 4 girls with an average age of 10.5 years (range 3 and 18 years). The diagnosis was made by MRI, the deficit in GH was sought by 2 stimulation tests: insulin hypoglycemia and glucagon test.

Results: Circumstances of discovery : growth retardation including one case with primary amenorrhea. All patients had a severe delay in height of -4DS to -2DS. All 5 boys had a micropenis. On MRI: 4 cases of pituitary stem interruption with ectopia of the post pituitary and pituitary hypoplasia, 3 cases with ectopia of the post pituitary, 1 case with hypoplasia and 1 case of pituitary stem interruption only. Familial history : 3 cases of consanguinity, 2 cases of hydrocephalus and cleft palate and 1 case of trisomy 21 in the siblings. Personal history : 1 case of fetal distress, 3 cases of celiac disease, 1 case of congenital primary hypothyroidism, 1 case of mental retardation. The somatotropic deficit is complete in all patients, gonadal deficit in all patients of puberty, 5 cases of thyrotropic deficit, 3 corticotropic deficits, the latter 2 appearing 1 to 6 years after the diagnosis of the somatotropic deficit. The outcome was favorable with a significant gain in height in children replaced early by growth hormone, the current height delay is at -2DS. The other deficits were replaced as and when they appeared.

Discussion: The presence of midline abnormality in the family and association with malformation syndromes reinforces the genetic origin. Growth retardation may indicate pituitary stem disruption syndrome; this form of late revelation should no longer be underestimated.