Background: Pituitary stalk interruption syndrome (PSIS) is a frequent cause of congenital hypopituitarism. Patients are initially referred for the evaluation of hypoglycemia during the neonatal period or growth retardation during infancy or childhood. PSIS are either associated with extra-pituitary malformations (EPM+) or isolated (EPM−).
Objective and hypotheses: To compare baseline characteristics, GH response, and long term evolution in patients with PSIS according to the initial presentation.
Method: 67 patients with PSIS followed at the Childrens Hospital in Toulouse, France, between 1984 and 2014, were included. Data of different groups were compared: EPM− (n=32) vs EPM+ (n=35) patients, neonates referred for hypoglycemia (n=10) vs children referred for growth retardation (n=44).
Results: All cases were sporadic with a male predominance (63%). Median age at diagnosis was 2.5 years (range 016.3 years). All patients had GH deficiency at diagnosis. Compared to children referred for growth retardation, neonates often displayed a hypogonadotropic hypogonadism (frequently associated with micropenis and cryptorchidism), multiple hormone deficiency, and absent anterior pituitary (P=0.0180, 0.0002, and 0.0017 respectively). Sixteen patients (36%) referred for growth retardation had neonatal hypopituitarism features. Compared to EPM− patients, EPM+ patients were diagnosed earlier (1.4 years vs 4.1 years, P=0.0004) and had more often multiple hormone deficiency (especially ACTH and TSH deficiencies) and absent pituitary stalk (P=0.0151 and 0.0310 respectively). Height gain after 2 years of GH treatment and adult height were similar in the four groups.
Conclusion: PSIS patients diagnosed during neonatal period or with associated EPM (syndromic PSIS) have a more severe hormonal impairment and MRI abnormalities. GH response is similar in all groups.
01 Oct 2015 - 03 Oct 2015