Endocrine Abstracts

Introduction: Williams syndrome (WS) is a multi-systemic disorder caused by a deletion in the region 7q11.23. Childhood endocrine follow-up is mainly aimed to monitor hypercalcemia and thyroid function. A high prevalence (63–71%) of impaired glucose tolerance (IGT) and diabetes mellitus (DM) in young adults with WS is reported. WS guidelines recommend Oral Glucose Tolerance Test (OGTT) starting from 30 years of age. We demonstrate evidence of IGT and DM in WS at a much ea...

Objective: To assess prevalence, clinical features, and follow-up of renal/urological malformations in patients with Turner syndrome (TS).Methods: The medical records of 182 patients with TS born between 1970 and 2013 were retrospectively reviewed.Results: Twenty-one girls (11.5%) were identified with renal/urological anomalies: 15 (71%) horseshoe kidney (HSK), 1 (4.7%) malrotation, 2 (9.5%) single kidney, and 1 (4.7%) duplex colle...

Background: Congenital leptin deficiency (CLD) is characterized by severe early-onset obesity due to hyperphagia and impaired satiety. The impact of obesity in obstructive sleep apnoea hypopnoea syndrome (OSAHS) was originally reported as mechanical, but recent data suggest that adipokines may influence central ventilation. We highlight that treatment with recombinant human leptin (RHL) in CLD with OSAHS improves ventilation before weight loss.Case prese...

Background: Vertebral Fractures (VF) are recognized as an important aspect of bone health in children and adolescents. The clinical utility of vertebral fracture assessment (VFA) using dual-energy X-ray absorptiometry (DXA) has not been evaluated in the paediatric population.Method: VFA was performed independently by two non-radiologist observers, in 165 patients (77M/88F) as part of their investigation for low bone mineral density. Lateral thoracolumbar...

Introduction: With improvements in assays and the increasing need for non-invasive, out-patient based investigations, there is a renewed interest in the use of urinary gonadotrophins (UG) for assessing pubertal progress. This study aims to establish the correlation between serum and urinary LH and FSH in patients undergoing investigation or management of pubertal disorders.Methods/design: Retrospective evaluation of eight patients undergoing investigatio...

Objective: Prospective evaluation of the relationship between first morning urinary gonadotrophins (uGn) measured by immunoassay and corrected for creatinine (uLH:uCr and uFSH:uCr), and basal serum gonadotropins (sLH and sFSH) and in response to LHRH stimulation test. Prospective evaluation of uGn trend in patients receiving GnRH analogue (GnRH-a; decapeptyl SR, 11.25 mg, every 10–12 weeks).Methods: Enrolled 15 (12M) patients evaluated for delayed p...