Pituitary Stalk Interruption Syndrome: Analysis of Response to Growth Hormone Therapy

ObjectiveTo analyse the clinical and radiological characteristics of pituitary stalk interruption syndrome (PSIS).MethodsA retrospective analysis of confirmed cases of PSIS was performed. The development of new pituitary hormonal deficiencies and response to recombinant human growth hormone (rhGH) therapy were assessed during follow-up.ResultsThis study included 14 children (10 boys) of PSIS with median (range) age of 12.15 years (2 months-18 years). Short stature was the most common presentation (n = 13), and micropenis (n = 4), cleft lip (n = 1) and single central incisor (n = 1) were other midline defects. Growth hormone (GH) deficiency was present in 14 children and 7 of them also had multiple pituitary hormone deficiencies at baseline. Central hypothyroidism (n = 5), secondary adrenal deficiency (n = 4) and gonadotropin deficiencies (n = 2) were also seen. All children received rhGH. The mean height gain on follow-up was 12.78 cm in first year (n = 14), 6.5 cm in second year (n = 8) and 4.07 cm in third year (n = 7) of rhGH therapy. Four children developed additional pituitary hormone deficiency on follow-up.ConclusionShort stature with isolated GH deficiency was the most common presentation of PSIS that showed good response to rhGH therapy.