ESPE Abstracts (2014) 82 P-D-2-2-524

Pituitary Stalk Interruption Syndrome: a Sequential Manner to Gain Pituitary Hormone Deficiencies with Still Unknown Molecular Basis

Elena Jerez, Gabriela Echeverría, Teresa Muñoz-Calvo, Jesús Pozo-Román, Gabriel Martos-Moreno & Jesús Argente

Hospital Infantil Universitario Niño Jesús. Universidad Autónoma de Madrid, Pediatrics and Pediatric Endocrinology, Instituto de Investigación La Princesa, Centro de Investigación Biomédica en Red de fi, Madrid, Spain

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: 0.05–11.64), 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.

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