Background: Pituitary stalk interruption syndrome (PSIS) is characterized by the absence of the pituitary stalk, pituitary hypoplasia and an ectopic posterior pituitary.
Objective: We aimed to retrospectively analyze the clinical, auxological, biochemical, and radiological findings in Spanish patients with PSIS.
Patients and results: Of 27 patients, 25% were female and 75% male. Perinatal features, auxological and endocrine study at diagnosis and during the first 3 years of follow-up were analyzed; 23% exhibited intrauterine growth restriction (most symmetric), 38.5% were delivered by Cesarean section and 46.2% suffered dystocia. GH deficiency occurred in 100% of patients, TSH deficiency in 65.4%, ACTH deficiency in 38.5%, FSH/LH deficiency in 26.9%, hyperprolactinemia in 19.2%, and ADH deficiency in 3.8%. Among these, 18.5% had isolated GH deficiency, 51.9% had combined pituitary hormone deficiencies, 25.9% had three, and 4.9% had four. Age at diagnosis for GH, TSH, ACTH, FSH/LH, and hyperprolactinemia was 3.9 years ±3.5 SDS (range: 0.0511.64), 3.7±4.6, 4.1±5.4, 12.3±5.1, and 3.4±4.8 respectively. Adult height was available for eleven patients (42.3%), 7 (63.6%) reaching or surpassing target height. rGH treatment was started at 4.1±3.6 years. Mean height before rGH therapy was −3.2±1.4 SDS. Mean IGF1 and IGFBP3 levels before treatment were −4.4±1.8 and −1.8±1.6 SDS respectively. Growth velocity before therapy was −2.2±1.3 SDS, increased to +2.9±3 SDS during the first year, and +2.6±2.1 SDS during the second year, reaching +1±1.2 SDS in the third year. No molecular abnormalities were found in the genes analyzed.
Conclusions: Children with PSIS develop pituitary hormone deficiencies in a sequential manner, starting with GH deficiency. Good response to rGH therapy is seen with the highest growth velocity observed during the first year of treatment.
20 - 22 Sep 2014
European Society for Paediatric Endocrinology