Endocrine Abstracts

Introduction: The time, degree and mode of pituitary function deterioration in patients with PROP1 mutation is not fully known and understood.Aim: To investigate the time and mode of pituitary function deterioration in the families/sporadic patients with PROP1 mutation during longitudinal observation.Methods: We performed a retrospective longitudinal (33 years, SD=12) analysis of 22 patients (11M/11W) with PROP1 mutation, including...

Background: Craniopharyngiomas are rare, relatively benign, slowly growing intracranial tumors originating in pituitary gland embryonic tissue. They may present at any age, with two peaks of occurrence in children and in older adults. Clinical symptoms are the result of mass effects. Treatment options include surgery, radio- and chemotherapy and unfortunately are connected with a high ratio of postoperative pituitary insufficiency.Aim: To present the lon...

Introduction: Joubert Syndrome (JS) is a rare ciliopathy condition, presenting distinctive cerebellar and brain stem malformation called the “molar tooth sign” (MTS) on brain imaging. Patients suffer from neonatal breathing dysregulation, developmental delay, hypotonia, abnormal eye movements. Endocrine disorders are only rarely evaluated, to date only few reports highlight the importance of hormonal evaluation.Material...

Introduction: A mutation in the PROP-1 gene is a rare cause of childhood-onset hypopituitarism. Patients with the disorder usually present with multiple pituitary hormone deficits. The pattern of development and the course of insufficiencies of individual axes remain unclear and affect patients metabolic status. Growth hormone therapy and substitution of other hormones may influence on glucose and lipid metabolism as well. Aim: To characterize the carboh...

Introduction: Mutation in PROP1 gene is the cause of different forms of pituitary dysfunction. The assessment of the functioning of the adrenal axis still raises the most doubts.Aim& methods: A retrospective longitudinal (mean 35 years, SD 16.24) analysis of 32 patients (19W/13M, including 5 families and sporadic cases) with PROP1 mutation was performed to define the optimal diagnostic approach in evaluation of adrenal axis. In the study morning cort...

Background: Pituitary stalk lesions (PSL) are various changes located in the pituitary infundibulum. The underlying pathology and exact diagnosis are difficult to establish due to their difficult anatomical locus.Aim: To present the etiological spectrum of pituitary stalk lesions and their clinical and hormonal characteristics on the basis of long term observation in the pediatric/adult endocrinology departments of our university.M...