Endocrine Abstracts

Introduction: Improved survival in childhood acute lymphoblastic leukaemia (ALL) has highlighted the importance of recognising and preventing skeletal morbidity. This study aims to assess bone health of ALL patients and compare this to other paediatric patients with chronic illness.Methods: Dual energy absorptiometry (DXA) scan results for total body bone mineral density (TBBMD), lumbar spine bone mineral apparent density (LSBMAD) and total body less hea...

Introduction: Adrenal hypoplasia congenita (AHC) is often difficult to differentiate from congenital adrenal hyperplasia in the early stages of life. Both can present with severe salt-losing crises, and in some cases, even sudden, unexpected death. In particular there tend to be no abnormalities of the genitilia in AHC thus delaying a possible diagnosis. In the autosomal recessive form of AHC, the absence of a recognised single gene mutation can cause significant difficulties ...

Background: Patients with isolated growth hormone deficiency (GHD) will routinely have an MRI scan of the pituitary and brain to assess pituitary size and presence of any intracranial lesions. The result may change the threshold for monitoring for further hormone deficiencies. However the test may also detect unexpected or unrelated abnormalities.Aim: To review the incidence of normal and abnormal MRI scans in children with a diagnosis of isolated GHD.</...

Introduction: Osteonecrosis is an increasingly common complication in young people treated for acute lymphoblastic leukaemia (ALL). This is likely to be due to the now universal use of high dose steroids.Aim: The aim of this study was to obtain information on prevalence, current UK management and long-term outcomes of patients.Methods: We retrospectively collated data on patients with osteonecrosis for the most recently completed t...

Background: Congenital hypothyroidism (CHT) may be viewed as a relatively easy condition to diagnose and treat. However, for the parents who are contacted with the neonatal screening results the news can be devastating. The quality of information provided at diagnosis is variable, and there are few support groups they can turn to. Many seek information online before meeting a paediatrician.Methods: The British Thyroid Foundation in conjunction with our r...

Introduction: Phytoestrogens are derived from plants that are structurally and functionally similar to oestrogens. Their health benefits are widely extolled, although excessive consumption in children may cause adverse effects.Case 1: A 5.7-year old female presented with a one-month history of breast development and a 3-day history of vaginal bleeding. Prior to presentation, she was taking a health drink containing fennel and sesame seeds, in addition to...

Introduction: Children with Laron’s syndrome have a classical phenotype which includes extreme short stature and mid facial hypoplasia. It is biochemically characterised by high levels of GH and very low IGF1 levels. These children fulfil the criteria for recombinant IGF1 (rhIGF1, Mecasermin) therapy, however this has to be balanced with possible side effects. This study looked at the short term efficacy and safety profile of six children (five males) with Laron’s sy...

Background: X-linked hypophosphataemia (XLH) is a genetic condition that causes significant skeletal deformities and is associated with lifelong disability and pain. In October 2018, the NHS in England recommended burosumab, an anti-FGF23 antibody, for treating XLH with radiographic evidence of bone disease in children aged 1 year and over, and in young people with growing bones. The clinical and cost effectiveness of burosumab for treating adults with XLH is ...

Introduction: In the UK, GH therapy is licensed for use in GH deficiency, Turner Syndrome, Small for Gestational Age (SGA), Prader Willi Syndrome (PWS), SHOX deletion and Chronic Renal Failure (CRF). Worldwide there are a number of additional indications. The aim was to review the use of GH prescriptions in relation to indications and to evaluate if there were similarities or differences between the licensed and unlicensed groups.Methods: All children st...

Background: Chromosome analysis is always indicated in disorders of sex development (DSD), but the need for karyotyping in gender dysphoria (GD) is less clear.Aims and objectives: We therefore aimed to review the place of routine chromosome analysis in the management of GD in children and adolescents.Patients and methods: Five hundred and twenty children and adolescents with GD have been referred at the time of reporting to the two...