Endocrine Abstracts

Background: chromosome 22q11.2 deletion syndrome has been reported to occur in about 1 per 347 to 992 fetuses.1 Patients present with velocardiofacial syndrome (VCFS) or DiGeorge syndrome (DS). Hypocalcemia has been reported to occur in up to 80.4% of cases.2Case report: a 28-year-old man, known with autism spectrum disorder (ASD), presented at the emergency department (ED) for muscle cramps. Medical history included chronic myeloid leukemia treated with...

Background: Chromosome 22q11.2 deletion syndrome has been reported in about 1 per 347 to 992 living births. Hypocalcemia occurs in up to 80.4% of cases.Case description: A 28-year-old man, known with autism spectrum disorder (ASD), presented at the emergency department (ED) for limbs muscle cramps. Medical history included chronic myeloid leukemia treated with tyrosine kinase inhibitor (TKI) the last 10 years, gastric bypass and recurrent fractures due t...

Introduction: Pituitary abscess is rare. The incidence is difficult to estimate but two papers indicated numbers <1 and 0.6% of all cases of pituitary disease. We present a patient with panhypopituitarism without diabetes insipidus sharing a cystic mass in the pituitary gland.Case history: A man aged 47 was referred with symptoms of intense, frontal headache since a few months, fatigue and erectile dysfunction with decreased sexual desire. There was ...

Background: Pegvisomant has demonstrated efficacy in attaining IGF1 normalisation in previously uncontrolled acromegalic patients. Improper or less than prescibed use may lead to suboptimal control.Aim: Evaluation of home educational program.Methods: Multicenter Flemish study in seven non-controlled acromegalic outpatients. All patients were trained for daily s.c. pegvisomant injection at home by one single specialist nurse during ...

Introduction: Bardet-Biedl syndrome (BBS) is an autosomal recessive, monogenic syndrome of obesity, with an estimated prevalence of 1:160.000. BBS is caused by mutations in one of the twenty-six genes that play a role in the function of primary cilia (1). Early-onset obesity, post-axial polydactyly, retinitis pigmentosa, renal or genitourinary abnormalities, learning disabilities and hypogonadism are considered primary features. Diabetes, speech deficit, heari...