Endocrine Abstracts

Background: In children, Cushing’s disease (CD) presents with a combination of weight gain and slowed linear growth. First-line pituitary surgery is the treatment of choice for most patients. In paediatric patients, the transsphenoidal surgical success rate is 60%–98% when performed by an expert pituitary surgeon. There is a need for additional pharmacological interventions to control hypercortisolaemia, which are currently limited, in children and adolescents. In ph...

Increased secretion of GH results in gigantism in children/adolescents and in acromegaly in adults; the relative roles of the various genetic causes of acromegaly and gigantism are still unclear. To analyse the genetic causes and inherited/familial features in patients with pituitary gigantism, we studied a large international cohort. Genetic or inherited characteristics were observed in 39% of patients and included familial isolated pituitary adenomas (FIPA; n=28), M...

X-linked acro-gigantism (X-LAG) is a rare novel genomic syndrome of pituitary gigantism that has a typical onset within the first year of life in children of normal or even low birth weight. X-LAG patients have a microduplications on chromosome Xq26.3 that includes a gene GPR101, which is highly upregulated in pituitary tumor tissue of affected patients. We performed a study of all 18 known X-LAG syndrome patients currently in the NICHD-University of Liège databa...

Aim: To analyse a large series of patients with pituitary gigantism.Materials and methods: We included in this multicentre study 158 patients (129 males) with pituitary adenoma (PA) or hyperplasia and current/previous abnormal, excessively rapid growth velocity for age or a final height greater than 2 SD above normal for their population. Data of patients were systematically recorded in case report forms.Results: The...

Background: Cardiovascular disease is an important cause of morbidity/mortality in chronic GH hypersecretion.Aim: To evaluate cardiovascular system in a large series of patients with pituitary gigantism. Standard case report forms were used with height assessments related to local country norms. Results: 151pts (123 male) with GH-excess and abnormal growth velocity for age or final height >2SD over local norms had complete data on cardiac assessments...