Endocrine Abstracts

Background: The novel peptide prokineticin-2 (PK2) has recently been implicated in the regulation of a number of physiological processes; including regulating gastrointestinal motility, spermatogenesis, neurogenesis and circadian rhythms. PK2 is a cysteine rich protein which mediates its effects via the prokineticin receptors which are expressed in several hypothalamic nuclei known to regulate food intake. We therefore hypothesised that PK2 may be an important endogenous regul...

Introduction: Children with pseudohypoparathyroidism (PHP) can have a broad range of phenotypic features and biochemical abnormalities. The heterogeneity of this patient group prompted us to review the clinical features of these children in our service.Methods: We recorded the mode of presentation, clinical features, growth pattern, biochemical profile and progress of 13 paediatric patients with PHP and hypocalcaemia under review in our service over a 11...

Objective: Children with malignant disease are at increased risk of bone disorders, cardiovascular disease and further neoplasia. Vitamin D status may influence this risk and so we assessed Vitamin D levels in children with malignant disease undergoing active treatment or surveillance post-therapy.Study design: This was an outpatient-based cross-sectional study of 60 children with a history of malignancy (cases: median age 11.1 years; range 1.5–24.4...

Introduction: Studies have reported a rising incidence of congenital hypothyroidism (CHT) although the pathophysiology of most cases is unknown. A rising incidence is not simply a reflection of changing assay methodology and environmental factors may have an aetiological role. If so, then cases may exhibit space-time clustering, where cases occur at similar times and close proximities to other cases.Methods: We investigated whether there is evidence of s...

Introduction: The Nephrogenic syndrome of inappropriate antidiuresis (NSIAD) is an X-linked condition characterised by reduced renal water clearance and hyponatraemia resulting from gain of function mutations in the type 2 Vasopressin (AVP) receptor (AVPR2). Female carriers were thought not to express a phenotype. We describe a kindred with NSIAD, highlighting molecular and physiological characteristics that extend understanding of this condition and of AVP production.<p c...

Familial expansile osteolysis is a rare autosomal dominant disorder of bone, first described in a kindred from Northern Ireland in 1988. There are histological similarities to Paget's disease but the disorder typically presents in the young.Case report: Our patient presented at 15 years of age with sensorineural hearing loss, skeletal pain, gingival hypertrophy and mobile teeth. Neither parent was similarly affected. Radiographs demonstrated tooth root r...