Endocrine Abstracts

Introduction: Acromegaly is a rare disorder caused by excessive growth hormone production. Common clinical manifestations are visual changes as well as serious systemic complications. In childhood and adolescence, excessive growth hormone production leads to abnormal tall stature. To date, only a few studies have been published focusing on analysing the growth of patients with acromegaly, in particular regarding the growth of their parents and siblings. A&#...

IntroductionAcromegaly is a chronic, slowly progressing disease caused in most cases by growth hormone (GH)- producing pituitary neuroendocrine tumors (PitNETs). This rare disorder is associated with a spectrum of various clinical manifestations and treatment outcomes differ between patients. The aim of this study was to evaluate the impact of age at the onset of symptoms and sex on clinical features, comorbidities, biochemical status at the diagnosis, a...

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...

Introduction: The mode of pituitary function deterioration in patients with PROP1 mutation is not fully known and understood. The function of adrenal axis requires special attention.Aim: To investigate the time/mode/markers of pituitary function deterioration in families/sporadic patients with PROP1 mutation during longitudinal observation.Methods: We performed retrospective longitudinal (36.4 years, s.d. = 13.6) analy...

Background: Hypopituitarism is a condition caused by deficiency in one or multiple pituitary hormones. The disease is associated with various metabolic disorders and decreased quality of life that are particularly marked in patients with childhood onset of the disorder. There are manyfactors influencing the metabolic status of patients such as different treatment modalities (surgery, radiotherapy, chemotherapy) and current supplementation (e.g. steroid or testosterone/estradio...