Endocrine Abstracts

Introduction: Children with Prader-Willi syndrome (PWS) show alterations in infantile, childhood and pubertal growth. Growth Hormone (GH) therapy is recommended due to reported improvements in height velocity (HV) and body composition.Methods: Height SDS (HSDS), BMISDS and HVSDS of children attending a dedicated PWS clinic, 2000–2017, were analysed. To identify changes in growth we compared growth parameters between 2000–2012 and 2013–2017...

Introduction: In Prader-Willi Syndrome (PWS), multidisciplinary evaluation is recommended both prior to GH initiation and at regular intervals during treatment.Methods: We reviewed the changes in GH use and the investigations performed prior and during GH therapy, in 58 children, from 2000 to 2017. International consensus recommendations were used as the gold standard of care. Data was analysed to compare four (2000–2004, 2005–2008, 2009–2...

Introduction: In children with PWS, dysfunction of HPA axis may contribute to the high incidence of sudden death. The prevalence and the extent of the dysfunction of HPA axis remain unclear.Methods: 18 (4M/14F) children with PWS, with a median age of 2.51 years (0.6,9.9), underwent insulin tolerance test (11/18, median age 3.8 years (2.1,9.9)) or glucagon stimulation test (7/18, median age 1.8 years (0.6,2.4)) as part of their assessment before commencin...

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: Bisphosphonate therapy (BPT) reduces osteoclast activity and may be associated with adynamic bone turnover. The extent of suppression of bone turnover and its determinants are unclear.Methods: Markers of bone metabolism were evaluated in 15 children (9M/6F) receiving cyclical BPT intravenously for osteoporosis. The median age at first biochemical assessment was 10.8 years (0.16, 16.3). Serum type I collagen cross-linked C-telopeptide (CTX),...

Introduction: In children undergoing investigation of testicular function the relationship between serum anti-Müllerian hormone (AMH) and the testosterone response to hCG stimulation test (HST) is unclear.Methods: 71 children (three females and 68 males) with a median age of 1.08 years (range: 0.003, 14.3) were investigated for suspected DSD by AMH on D1 and testosterone on D1 and D4, before and after 3-day HST. Of these children, 27 had an addition...

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...

Introduction: Evaluation of XY DSD requires a combination of endocrine and genetic tests. It is unclear whether these two sets of investigations should be performed stepwise or in parallel.Aims: The aim of the study was to document the range of endocrine and genetic abnormalities identified in all XY boys who were investigated at one specialist multidisciplinary service.Methods: Case records were reviewed to collect information fro...

Introduction: Monitoring glucocorticoid (GC) replacement in patients with congenital adrenal hyperplasia (CAH) due to 21-hydroxylase deficiency (21OHD) remains challenging. There are disease-specific patterns in the plasma and urinary steroid profiles in 21OHD, a key role being played by the 11-oxygenatedC19 androgens. Aim: To explore the urinary steroid profile in 21OHD in relation to treatment and plasma steroids. Methods: Partic...

Introduction: There is limited knowledge on the impact of congenital adrenal hyperplasia (CAH) on the health and well-being of children and young persons (CYP). We aimed to establish the health status of CYP with CAH across the United Kingdom.Methods: We conducted a national multi-centre prospective study recruiting 107 patients aged 8–18 with 21-hydroxylase deficiency from 14 centres and 83 matched controls. Demographic, clinical, metabolic data, a...